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GOIN, John Lowell (xxxx)Symptoms/Conditions Presented: Bladder Cancer, Melanoma, PAD, Acne, Shingles, High Blood Calcium with elevated PHL, Kidney Failure (Stage III), (Genetic) Infantile (Left Side) Kidney, Apnea, Shovel Teeth, Lactose Intolerance, Recent Lung and Lymph Gland Irregularities-Diagnosis, Stage IIIA lung/lymph cancer.Specifics applicable to John Goin are in red.John Goin is a Melungeon [a Tri-Racial (Appalachian) isolate located in north eastern corner of Tennessee]. Today, most Melungeons have quite a little of both northern European and Mediterranean white, some Black and at least a trace of American Indian. But anyone who traces back to someone considered Melungeon before the Civil War is definitely Melungeon, and that is many thousands and a very diverse group.MELUNGEONS AND OTHER MESTEE GROUPS by Mike Nassau. Page 29…melungeons and identified with them, and the Redbones of Louisiana do partly derive from this range. The Lumbees of southern North Carolina and the border of South Carolina are the largest Mestee (technically Indian) group and constitute their own range. The Southern range includes the Brass Ankles, Red Bones, Turks, Smilings and many other small groups of South Carolina, the Cajans of Alabama and Mississippi, the Dead Lake People of Florida and the Redbones (including the Sabines and Houmas) of Louisiana [BB,WG,EP].The different ranges have different type names, but the spread of certain names through a given range is one proof of the extensive mixing between the groups within each range. The Goins name is intriguing, it is a type name for almost all of the Mestee ranges except the Ramapo Mountain People [BB]. It has been traced back to a black family named Gowan in Virginia, [HP]. It is spelt Goins, Goin, Goines, Goen, Goens, Going, Goings, Gowen, Gowan and Gowans.Melungeon (An Appalachian Tri-Racial-Isolate) genetic disorders, including anemias and familial Mediterranean fever.·Six fingers (polydactyly)··Dark skin, dark hair, blue or green eyes··Jewish heritage. See Genomic date included··Shovel teeth··Anatolian bump, or occipital bun··Sleep apnea, allergies, and lactose intolerance.··Familial Mediterranean fever··Behçet's syndrome·Sarcoidosis, a disease found in primarily in Mediterranean populations, and to a lesser degree among the Irish, Scandinavian, and Appalachian blacks and whites (Kennedy, 1997, p. 3). See Genomic data included.·Genetic Reports on John L. Goin·oFamily Tree DNA 23andMe AncestryGEDmatch··Pre April 2017§Post April 2017·December 2017··British Isles 68% 45.5% 47·North European 22.08·Mediterranean 15.03·Scandinavia 4% 8.8% 7% 9.10··West and 3% 37.6% 40% 43.52·Central Europe··East Europe 17% 2.0% 2.% 6.82·Ashkenazi Jewish 4% 0.1% 0.1%·Middle East <0.2% 0 0 2.57··Oceania <0.1% 0··South Central <0.1% 0.2% 0.2%·Africa·John Goin’s “Y-chromosome” is haplogroup E1b1a, probably E1b1a7a (also known as E-M2 in Family Tree DNA nomenclature and as P-252 in the nomenclature of 23 and Me testing. This is a sub-Saharan West African chromosome.)Health studies have associated people of Melungeon ancestry with polydactyly (having six fingers), shovel teeth, prominent occipital bun or Anatolian bump, Behcet’s disease, familial Mediterranean fever, chronic fatigue syndrome, rare anemias and other genetic traits and disorders.“Denting enosis Imperfecta in a Racial Isolate with Hereditary Defects”, by: Rudolph J. Hursey et al, Oral Surgery, Oral Medicine, and Oral Pathology, Vol 9, No. 6, pp 641-658y,The two front teeth and the two on either side have a ridge on the back near the gum line and also curve outward creating a shovel tooth while the front remains perfectly straight.In anthropology, Sinodonty and Sundadonty are two patterns of features widely found in the dentitions of different populations in East Asia. These two patterns were identified by anthropologist Christy G. Turner II as being within the greater "Mongoloid dental complex".[2]Sundadonty is regarded as having a more generalised, proto-Mongoloid morphology and having a longer ancestry than its offspring, Sinodonty.The combining forms Sino- and Sunda- refer to China and Sundaland, respectively, while -dont refers to teeth.Contents1Proto-sundadont2Mongoloid dental complex2.1Sundadont2.2Sinodont2.2.1Associated traits3Applicability4See also5References6External linksProto-sundadontTsunehiko Hanihara (1993) believed that the dental features of Aboriginal Australians have the characteristic of high frequencies of "evolutionarily conservative characteristics," which is called the "proto-sundadont" pattern.[3]C.G Turner II shows with his analysis of 2016 that sundadonty is the proto-Mongolid dental morphology and is not connected to the Australoid dental morphology. He also shows that sinodonty is predominant in Native Americans.[4]Mongoloid dental complex[edit]Turner defined the Sinodont and Sundadont dental complexes in contrast to a broader Mongoloid dental complex.[5]Hanihara defined the Mongoloid dental complex in 1966. In 1984, Turner separated the Mongoloid dental complex into the Sinodont and Sundadont dental complexes.[6]Ryuta Hamada, Shintaro Kondo and Eizo Wakatsuki (1997) said that, based on dental traits, Mongoloids are separated into sinodonts and sundadonts, which is supported by Christy G. Turner II (1989).[7][8]Turner found the Sundadont pattern in the skeletal remains of Jōmon people of Japan, and in living populations of Taiwanese aborigines, Filipinos, Indonesians, Borneans, and Malaysians.In 1996, Rebecca Haydenblit of the Hominid Evolutionary Biology Research Group at Cambridge University did a study on the dentition of four pre-Columbian Mesoamerican populations and compared their data to "other Mongoloid populations".[9]She found that "Tlatilco", "Cuicuilco", "Monte Albán" and "Cholula" populations followed an overall "Sundadont" dental pattern "characteristic of Southeast Asia" rather than a "Sinodont" dental pattern "characteristic of Northeast Asia".[9]Turner found the Sinodont pattern in the Han Chinese, in the inhabitants of Mongolia and eastern Siberia, in the Native Americans, and in the Yayoi people of Japan.Sinodonty is a particular pattern of teeth characterized by the following features:The upper first incisors and upper second incisors are shovel-shaped, and they are "not aligned with the other teeth".[10]The upper first premolar has one root (whereas the upper first premolar in Caucasians normally has two roots), and the lower first molar in Sinodonts has three roots (3RM1) whereas it has two roots in Caucasoid teeth.[10][5]Associated traitsThe EDAR gene causes the Sinodont tooth pattern, and also affects hair texture,[11]jaw morphology,[12]and perhaps the nutritional profile of breast milk.[13]ApplicabilityIn the 1990s, Turner's dental morphological traits were frequently mentioned as one of three new tools for studying origins and migrations of human populations. The other two were linguistic methods such as Joseph Greenberg's mass comparison of vocabulary or Johanna Nichols's statistical study of language typology and its evolution, and genetic studies pioneered by Cavalli-Sforza.Today, the largest number of references to Turner's work are from discussions of the origin of Paleo-Amerindians and modern Native Americans, including the Kennewick Man controversy. Turner found that the dental remains of both ancient and modern Amerindians are more similar to each other than they are to dental complexes from other continents, but that the Sinodont patterns of the Paleo-Amerindians identify their ancestral homeland as north-east Asia. Some later studieshave questioned this and found Sundadont features in some American peoples.A study done by Stojonowski et al in 2015 found a "significant interobserver error" in the earlier studies and their statistical analysis of matched wear and morphology scores suggests trait downgrading for some traits.[14]See alsoAinu peopleAustraloid raceAustronesian peoplesMalay raceMongoloidOdontometricsShovel-shaped incisorsReferences[edit]1.^ Howells, William W. (1997). Getting Here: the story of human evolution. ISBN 0-929590-16-32.^ G. Richard Scott, Christy G. Turner, (2000). The Anthropology of Modern Human Teeth: Dental Morphology and Its Variation in Recent Human Populations. Cambridge University Press. ISBN 05217845303.^ Pilloud, Marin; Heim, Kelly; Schmitz, Kirk; Paul, Kathleen. "Sinodonty, Sundadonty, and the Beringian Standstill model: Issues of timing and migrations into the New World".4.^ Hanihara, Tsunehiko. (1993). Craniofacial Features of Southeast Asians and Jomonese: A Reconsideration of Their Microevolution Since the Late Pleistocene. Anthropological Science, 101(1). Page 26. Retrieved March 8, 2018, from link to the PDF document.5.^ Jump up to:abScott, R.G. (1997). Encyclopedia of Human Biology. Second Edition. Volume 3. Pages 175-190. Retrieved December 14, 2016, from link.6.^ Díaz, E. et al. (2014). Frequency and variability of dental morphology in deciduous and permanent dentition of a Nasa indigenous group in the municipality of Morales, Cauca, Colombia. In Colombia Médica, 45(1). Pages 15–24. Retrieved December 14, 2016, from link.7.^ Hamada, Ryuta, Kondo, Shintaro & Wakatsuki, Eizo. (1997). Odontometrical Analysis of Filipino Dentition. The Journal of Showa University Dental Society, 17. Page 197. Retrieved March 8, 2018, from link to the PDF document.8.^ SAO/NASA Astrophysics Data System. Teeth and Prehistory in Asia. Retrieved March 9, 2018, from link to the web page.9.^ Jump up to:abHaydenblit, R. (1996), Dental variation among four prehispanic Mexican populations. American Journal of Physical Anthropology, 100: 225–246. doi: 10.1002/(SICI)1096-8644(199606)100:2<225::AID-AJPA5>http://3.0.CO;2-W10.^ Jump up to:abKimura, R. et al. (2009). A Common Variation in EDAR Is a Genetic Determinant of Shovel-Shaped Incisors. In American Journal of Human Genetics, 85(4). Page 528. Retrieved December 24, 2016, from link.11.^ Kamberov YG, Wang S, Tan J, Gerbault P, Wark A, Tan L, Yang Y, Li S, Tang K, Chen H, Powell A, Itan Y, Fuller D, Lohmueller J, Mao J, Schachar A, Paymer M, Hostetter E, Byrne E, Burnett M, McMahon AP, Thomas MG, Lieberman DE, Jin L, Tabin CJ, Morgan BA, Sabeti PC (Feb 2013). "Modeling recent human evolution in mice by expression of a selected EDAR variant". Cell. 152 (4): 691–702.doi:10.1016/j.cell.2013.01.016.PMC3575602.PMID23415220.12.^ Adhikari, K., Fuentes-Guajardo, M., Quinto-Sánchez, M., Mendoza-Revilla, J., Chacón-Duque, J. C., Acuña-Alonzo, V., Gómez-Valdés, J. (2016). "A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation". Nature Communications. 7: 11616.Bibcode:2016NatCo...711616A.doi:10.1038/ncomms11616.PMC4874031.PMID27193062. Retrieved 12 November 2016.CS1 maint: Uses authors parameter (link)13.^ Lozovschi, Alexandra (24 April 2018). "Ancient Teeth Reveal Breastfeeding-Related Gene Helped Early Americans Survive The Ice Age [Study]". Inquisitr. Retrieved 25 April 2018.14.^ Stojanowski, Christopher M.; Johnson, Kent M. (2015-3). "Observer error, dental wear, and the inference of new world sundadonty". American Journal of Physical Anthropology. 156 (3): 349–362.doi:10.1002/ajpa.22653.ISSN1096-8644.PMID25363296.Check date values in: |date= (help)External links: Affinities of the Paleoindians"Tracing Native American Origins"<img src="//en.wikipedia.org/wiki/Special:CentralAutoLogin/start?type=1x1" alt="" title="" width="1" height="1" style="border: none; position: absolute;" />Retrieved from "https://en.wikipedia.org/w/index.php?title=Sinodonty_and_Sundadonty&oldid=876957744"Categories:TeethBiological anthropologytSoccerUS PoliticsBusinessTechScienceMoreThe Past and the CuriousGeneticsMongoloidThe racial differences are more marked in the permanent dentition than the deciduous dentition. The most distinguishing feature in the Mongoloid dentition is found on the lingual surface of the incisors in fusion of the lateral or marginal ridges which formed a raised cingulum and creates a deep lingual fossa. The ridge fades toward the incisal portion of teeth, and this gives the tooth a “shovel” or “scoop” shape appearance [Figure l]. This condition is found in approximately 90% of Mongoloids inclusive of Eskimos and American Indians.[17]Occasionally, there may be a groove on the lingual surface at the cervical margin up to the root surface and “Screw like or Finger like” projections from the cingulum toward the incisal margins [Figure 2]a and [Figure 2]b. Frequently, the prominent lingual marginal ridges which produce the Mongoloid shovel-shaped incisor extends onto the labial surface [Figure 3]. These produce a mesiodistal concavity of the labial surface and are termed “double-shovel shaped” incisor.[17],[18]What the ancient DNA discovery tells us about Native American ancestryA new genome from a Pleistocene burial in Alaska confirms a longstanding model for the initial peopling of the AmericasSurprise as DNA reveals new group of Native Americans: the ancient BeringiansJennifer RaffJennifer is a geneticist who specialises in the study of human variation among contemporary and ancient populations.Wed 3 Jan 2018 13.00 EST Last modified on Wed 14 Feb 2018 16.38 ESTShare on FacebookShare on TwitterShare via EmailShares1,2611261Comments224Alaskan glacier. Photograph: AlamyA little over 11,000 years ago, a grieving family in Central Alaska laid to rest a six-week-old baby girl, a three-year-old child, and a preterm female fetus. According to their custom, the children were interred under a hearth inside their home and provisioned with the carefully crafted stone points and bone foreshafts of hunting lances. We don’t know their names, but the peoples who live in the region today (the Tanana Athabaskans) call one of the girls Xach’itee’aanenh t’eede gaay (sunrise child-girl) and the other Yełkaanenh t’eede gaay (dawn twilight child-girl). Their remains were discovered a few years ago at a site known today as the Upward Sun River.Surprise as DNA reveals new group of Native Americans: the ancient BeringiansRead moreThese children carried the history of their ancestors within their DNA, and with the permission of their descendants they are now teaching us about the early events in the peopling of the Americas. A new paper in Nature, Terminal Pleistocene Alaskan genome reveals first founding population of Native Americans by Moreno-Mayar et al., analyzes the complete genome of one of these children. This genome gives us a glimpse of the genetic diversity present in Late Pleistocene Beringians, the ancestors of Native Americans, and confirms a decades-old hypothesis for the early peopling of the Americas.To contextualize this work, it helps to start with what we know – and don’t know – about how humans first got to the American continents. We’ve known for a long time that the indigenous peoples of the Americas are descended from a group of people who crossed a land connection between Asia and North America sometime during the Last Glacial Maximum (26,500 to 19,000 years before present, or YBP).AdvertisementThe prevailing model for how this happened is known as the Beringian Standstill (or Pause or Incubation, depending on who you ask), which was originally conceived of based on classical genetic markers and fully developed by the analysis of maternally inherited mitochondrial genomes . This model states that the ancient Beringians must have experienced a long period of isolation from all other populations. (Estimates for the length of this isolation vary, but the lower end – roughly 7,000 years – is about as long as the period between the invention of beer brewing and the Apollo 11 landing). During this period they developed the genetic variation uniquely found in Native American populations.This isolation likely took place in Beringia. Environmental reconstructions based on ancient plant remains taken from soil cores, as well as computer temperature models show that it was actually a relatively decent place to live during the Last Glacial Maximum (LGM). Large regions of Beringia would have had warmer temperatures than Siberia and shrub tundra with plants and animals available to support a sizeable human population. Although we don’t have any direct archaeological evidence of people living in central Beringia during the LGM – because that region is currently underneath the ocean – we do have evidence that people were living year round in western Beringia (present-day Siberia) at the Yana Rhinocerous Horn sites by 30,000 YBP and in eastern Beringia (present-day Yukon, in Canada) by about 20-22,000 YBP at the Bluefish Caves site.Sign up for Lab Notes - the Guardian's weekly science updateRead moreAt the end of the LGM, temperatures began to rise and the glaciers that covered North America slowly began to melt. The first peoples to enter the Americas from Beringia are thought to have done so shortly after a route opened up along the west coast, about 15,000 years ago. Travel by boat would have allowed very rapid southward movement, making it possible for people to establish themselves at the early site of Monte Verde in Chile by 14,220 YBP, as well as a number of other sites in North America of similar ages. Whether there was southward travel by Clovis peoples via the ice-free corridor once it opened remains unresolved, but there is at least some evidence against it.Today there remain a number of questions about the details of the Beringian Incubation model: 1) Which population(s) contributed to the ancestry of the earliest Native Americans? 2) When and where did their ancestors become isolated, and how long did this isolation last? 3) How did people initially enter the Americas from Beringia? 4) When and how did the patterned genetic variation that we see in Native American populations emerge?Ancient genomes from people who lived in the Americas and in Siberia during or shortly after the LGM can help provide answers to some of these questions. But there aren’t very many burials that date to this period, so the Upward Sun River child’s genome is very significant. It strongly confirms the Beringian Incubation/Standstill model. In this region of Alaska today, we only see a subset of Native American-specific mitochondrial haplogroups: those which are uniquely restricted to the Arctic and Subarctic. But the Beringian Standstill model predicted that ancestral Beringians should have all “founder” mitochondrial lineages present in ancient and contemporary Native Americans. In the absence of any ancient DNA dating to the Late Pleistocene, this remained an unsolvable puzzle.But when the first genetic data from two of the Upward Sun River children was successfully recovered by Justin Tackney et al. in 2015, we (I was a minor co-author on the paper) discovered that they had mitochondrial lineages (C1b and B2) not typical of contemporary peoples of the region. We hypothesized that they might represent the descendants of a remnant ancient Beringian population, but it was impossible to test this hypothesis without additional data from the nuclear genomes. Moreno-Mayar et al.’s nuclear genome results from one of the children (the other didn’t yield enough nuclear DNA for analysis) confirm that she belonged to a group that had remained in Beringia after Native Americans began their migration southward into the Americas. We know that because this child is equally related to all indigenous populations in the Americas. She did not belong to either of the two major Native American genetic groups (Southern and Northern), but was equally related to both of them. One interpretation of this result is that her ancestors must have remained in Alaska after splitting from the ancestors of Native Americans sometime around 20,000 YBP. Her genome, provides new insight into the genetic diversity present in the ancestral Beringian population. One important component of that is that it gives us new estimates of the approximate dates of key events:~36,000 YBP: The ancestors of the ancient Beringians began to separate from East Asians, but gene flow between them continues until about 25,000 YBP~25-20,000 YBP: This population experienced gene flow with the ancient North Eurasian population (to which the Mal’ta boy belonged)~20,000 YBP: The ancestors of the Upward Sun River child diverged from the ancestors of other Native Americans.~17,000-14,600 YBP: The two major clades (genetic groups) of Native Americans differentiate from one another.While this paper doesn’t yield any tremendous surprises, it does add new details to and confirms the predictions of a hypothesis for the initial peopling of the Americas that has been the focus of much research over the past few years. We ought to temper our excitement, however, with the recognition that a nuclear genome from a single individual might not represent the full range of genetic diversity within a population, and those questions I outlined above will need additional data to fully answer. We still have a tremendous amount to learn about the origins and evolution of the indigenous peoples of the Americas.Further reading:Moreno-Mayar et al. 2018. Terminal Pleistocene Alaskan genome reveals first founding population of Native Americans. Nature.Symptoms of Behçet's syndrome?The symptoms of Behçet's syndrome depend on the area of the body affected. Behçet's syndrome can involve inflammation of many areas of the body. These areas include the arteries that supply blood to the body's tissues. Behçet's syndrome can also affect the veins that take the blood back to the lungs to replenish oxygen. Other areas of body that can be affected by the inflammation of Behçet's syndrome include the back of the eyes (retina), brain, joints, skin, and bowels.Arteritis from Behçet's syndrome. This could cause a stroke if it is affecting the brain vessels, belly pain if affecting the bowel, etc. When veins become inflamed (phlebitis), the inflammation can involve large veins that develop blood clots which can loosen and migrate to cause pulmonary embolisms.Joint inflammation: This occurs in about half of patients with Behçet's syndrome at some time during their lives. Knees, wrists, ankles, and elbows are the most common joints affected.The skin of patients with Behçet's syndrome can develop areas of inflammation that spontaneously appear as raised, tender, reddish nodules (erythema nodosum), typically on the front of the legs. Research has found that acne occurs more frequently in patients with Behçet's syndrome that also have arthritis as a manifestation.Source publication: Donald N. Yates and Elizabeth C. Hirschman, “Toward a Genetic Profile of Melungeons in Southern Appalachia,” Appalachian Journal 38/1 (Fall 2010): 92-111. Medically reviewed by John A. Daller, MD; American Board of Surgery with subspecialty certification in surgical critical care.Behçet’s disease and sarcoidosis: a rare associationO Berriche1, S Hammami2, Y Cherif1 (cherifyousra2011 at gmail dot com) #, S Younes1, W Alaya1, MH Sfar11Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital of Mahdia, Tunisia. 2 Department of Endocrinology and Internal Medicine, Fattouma Bourguiba’s University Hospital of Monastir, Tunisia# : corresponding authorBehçet disease (BD) and sarcoidosis share several common features, such as uveitis, polyarthritis, meningitis, cardiovascular disease, erythema nodosum, and abnormal chest radiographs. The rare case of a 50-year-old Tunisian man with BD and sarcoidosis is described. The serum angiotensin-converting enzyme level increased, and histological examination of lung revealed non-caseating granulomas. It is important to distinguish these two entities, as the course of the disease is usually different in both. This case report highlights the possible links of the underlying immunologic mechanisms that remain not obvious.ConclusionThe etiology of sarcoidosis is unknown at present. BD, in comparison, is more studied and documented. There are wide recognized changes of immuno-inflammatory in both diseases. The association of sarcoidosis and BD seems to be more than a mere coincidence. This case report highlights that there may be some associated factors which may lead to development of sarcoidosis in preexisting BD. More case reports linking sarcoidosis and BD may lend credibility to the theory that sarcoidosis is an inflammatory diseaseSarcoidosis is a disease involving abnormal collections of inflammatory cells that form lumps known as granulomas.[2]The disease usually begins in the lungs, skin, or lymph nodes.[2]Less commonly affected are the eyes, liver, heart, and brain.[2]Any organ, however, can be affected.[2]The signs and symptoms depend on the organ involved.[2]Often there are no, or only mild, symptoms.[2]When it affects the lungs there may be wheezing, coughing, shortness of breath, or chest pain.[3]Some may have Löfgren syndrome in which there is fever, large lymph nodes, arthritis, and a rash known as erythema nodosum.[2]The cause of sarcoidosis is unknown.[2]It may be due to an immune reaction …in those who are genetically predisposed.[12][13]Diagnosis is partly based on signs and symptoms, which may be supported by biopsy.[6]Findings that make it likely include large lymph nodes at the root of the lung on both sides, high blood calcium with a normal parathyroid hormone level, or elevated levels of angiotensin converting enzyme:(ACE) in the blood.[6]The diagnosis should only be made after excluding other possible causes of similar symptoms such as tuberculosis.[6]In 2015 pulmonary sarcoidosis and interstitial lung disease affected 1.9 million people globally and they resulted in 122,000 deaths.[11][10]It is most common in Scandinavians but occurs in all parts of the world.[14]In the United States risk is greater among black as opposed to white people.[14]It usually begins between the ages of 20 and 50.[4]It occurs more often in women than men.[4]Sarcoidosis was first described in 1877 by the English doctor Jonathan Hutchinson as a non-painful skin disease.[15]Genetics of sarcoidosis varies according to ethnicity. About 20% of African Americans with sarcoidosis have a family member with the condition, whereas the same figure for European Americans is about 5%. Additionally, in African Americans, who seem to experience more severe and chronic disease, siblings and parents of sarcoidosis cases have about a 2.5-fold increased risk for developing the disease.[24] Investigations of genetic susceptibility yielded many candidate genes, but only few were confirmed by further investigations and no reliable genetic markers are known. Currently, the most interesting candidate gene is BTNL2; several HLA-DR risk alleles are also being investigated.[72][73]Thomas A. Neff Lecture. Advances in the Genetics of SarcoidosisMichael C. Iannuzzi1Division of Pulmonary, Critical Care, and Sleep Medicine, Mount Sinai Medical Center, New York, New YorkFamilial aggregation and racial differences in incidence support the notion that sarcoidosis occurs in genetically susceptible hosts.…A genome-wide scan performed in German families with follow-up fine mapping studies has yielded a highly attractive candidate gene, BTNL2 in the MHC II region on chromosome 6. BTNL2, a member of the B7 family of co-stimulatory molecules, likely functions to down-regulate T-cell activation. A BTNL2 single-nucleotide polymorphism associated with sarcoidosis is predicted to result in a truncated nonfunctioning protein. Association of BTNL2 with sarcoidosis has been confirmed in both white and African Americans. A genome-wide scan with follow-up fine mapping studies in African American families has identified chromosome 5 as potentially harboring candidate genes. Additional linkage analysis in the African American families stratified according to genetic ancestry demonstrated that linkage signals varied according to degree of admixture. Certain chromosomal regions were also found linked to specific phenotypes. Follow-up fine mapping studies of the linked regions are underway.Keywords: sarcoidosisgeneticsBTNL2Correspondence and requests for reprints should be addressed to Michael C. Iannuzzi, M.D., Mount Sinai Medical Center, 1 Gustave L. Levy Place, Box 1232, New York, NY 10029. E-mail: [email protected] persistent sarcoidosis, the HLA haplotype HLA-B7-DR15 are either cooperating in disease or another gene between these two loci is associated. In non-persistent disease, there is a strong genetic association with HLA DR3-DQ2.[74][75]Cardiac sarcoid has been connected to TNFA variants.[76BTNL2 gene polymorphism associations with susceptibility and phenotype expression in sarcoidosis António MoraisSummaryA functional polymorphism within butyrophilin-like 2 (BTNL2) gene has been described as a potential risk factor for sarcoidosis. The association between chronicity and the rs2076530 SNP A allele has also been reported.This study evaluates the BTNL2 rs2076530 G/A allele associations with sarcoidosis susceptibility and disease evolution in a Portuguese cohort of patients.A case-control study of 151 patients and 150 controls was performed. Allele frequencies were compared with Chi-square test in a univariate analysis and with logistic regression in a multivariate analysis.BTNL2 rs206530 A allele frequencies were significantly higher in sarcoidosis with no linkage disequilibrium with HLA-DRB1 alleles, except in the subgroup of patients with Löfgren syndrome where the determinant allele was HLA-DRB1*03. The A allele was also increased in those with isolated thoracic disease, with no differences regarding radiological stages or disease evolution. HLA-DRB1*03, besides the association with Löfgren syndrome was significantly related with disease resolution. Our data confirms the association of BTNL2 rs2076530 A allele with sarcoidosis susceptibility in a Portuguese population. We found independent genetic risk factors in clinically distinct disease phenotypes: BTNL2 rs2076530 A allele in patients without Löfgren syndrome or with isolated thoracic disease, and HLA-DRB1*03 in Löfgren syndrome or disease resolution.Sarcoïdosis, sarcoid, Besnier-Boeck-Schaumann disease[1 ]Chest X-ray showing the typical nodularity of sarcoidosis, predominantly in the bases of the lungs.SpecialtyRheumatologySymptomsDepends on the organ involved[2]Lungs: wheezing, cough, shortness of breath, chest pain[3]Skin: lumps, ulcers, discolored skin[3]DurationFew years to long term[2][5]Risk factorsFamily history[4]Diagnostic methodBased on symptoms and tissue biopsy[6]Similar conditionsTuberculosis, lymphoma, infectious mononucleosis, pulmonary eosinophilia[7]TreatmentIbuprofen, prednisone, methotrexate[8][9]PrognosisMortality 1–7%[5]Frequency1.9 million with interstitial lung disease (2015)[10]Deaths122,000 with interstitial lung disease (2015)[11]FULL STORY Genetic Kidney DiseaseNew methods find undiagnosed genetic diseases in electronic health recordsDate:March 15, 2018Source:Vanderbilt University Medical CenterSummary:Researchers have found a way to search genetic data in electronic health records to identify undiagnosed genetic diseases in large populations so treatments can be tailored to the actual cause of the illness.Share:Patients diagnosed with heart failure, stroke, infertility and kidney failure could actually be suffering from rare and undiagnosed genetic diseases.advertisementAnd now researchers at Vanderbilt University Medical Center have found a way to search genetic data in electronic health records to identify these diseases in large populations so treatments can be tailored to the actual cause of the illness.The implications for the findings reported today in the journal Science are broad and numerous -- 14 percent of patients with genetic variants affecting the kidney had kidney transplants and 10 percent with another variant required liver transplants.If their genetic cause had been diagnosed, those transplants might have been avoided."We started with a simple idea: look for a cluster of symptoms and diseases to find an undiagnosed underlying disease," said Josh Denny, MD, MS, professor of Biomedical Informatics and Medicine and director of the Center for Precision Medicine."Then we got really excited when we saw how we could systematize it across thousands of genetic diseases to figure out the impact of millions of genetic variants," he said.The new method, developed by Denny, Lisa Bastarache, MS, and a team of collaborators, creates a phenotype risk score to find patterns of symptoms that may be caused by an underlying genetic variant -- including some genetic variants whose effects were previously unknown.The authors theorized that many patients currently diagnosed with issues such as heart failure, stroke, infertility or kidney failure might actually be suffering from a rare genetic disease. If that underlying disease could be identified, it may have a specific treatment preventing the symptoms from recurring or getting worse.By merging traditional resources with newer data mining techniques, the authors assigned scores to 21,701 individuals based on how well their list of symptoms fit the clinical description of each of 1,204 different genetic diseases. The resulting phenotype risk score is high for individuals who are a close match and low for individuals who lack keys features of the disease."What the phenotype risk score shows us is that if you start with specific combinations of symptoms, the chances of finding a potentially causative genetic variant are pretty high. This is a really important step to using clinical genotyping to assess patient risk and inform more precise prevention and treatment of common conditions," said co-author Dan Roden, MD, Senior Vice President for Personalized Medicine.The researchers found 18 associations between genetic variants and high phenotype risk scores. Some are well known to geneticists, such as two variants that cause cystic fibrosis, but most of the associations were for variants that have not previously been described.Individuals for this discovery study were drawn from BioVU, one of the largest repositories of its kind linking DNA samples to de-identified electronic health records. The team then replicated their results at a second biobank at the Marshfield Clinic and confirmed them through tests in labs at VUMC and the University of Oklahoma.The research also provides an important insight into the nature of disease inheritance. Until now, physicians have assumed that genetic diseases called "recessive" require two mutations (one from each parent) to become symptomatic. However, the researchers found that only one variant was enough for some diseases to impact a patient's health."In view of our findings, familiar medical categories such as 'complex' versus 'genetic', or 'dominant' versus 'recessive' begin to appear more like continuums," said Bastarache, lead data scientist with VUMC's Center for Precision Medicine.As genetic testing becomes more common, there is a growing need to understand the impact of genetic variants. Only a fraction of the rare genetic variants found in human beings are well understood. This study shows that looking at outcomes in electronic health records can be helpful in deciding if a variant might be disease-associated."Phenotype risk scoring can easily be applied in any electronic medical record system that is linked to DNA," Bastarache said. "Our work looked at only a small sample of the human genome, about 6,000 variants. The opportunity for additional discoveries using this method is huge."The study unites efforts of 27 authors: Lisa Bastarache, Jake Hughey, Joy Marlo, Sara Van Driest, Tracy McGregor, Jonathan Mosley, Quinn Wells, Michael Temple, Andrea Ramirez, Robert Carroll, Travis Osterman, Todd Edwards, Doug Ruderfer, Digna Edwards, Rizwan Hamin, Joy Cogan, Andrew Glazer, Wei-Qi Wei, QiPing Feng, Nancy Cox, Dan Roden, and Josh Denny working at VUMC; Scott Hebbring and Murray Brilliant at the Marshfield Clinic; and Wanke Zhao, Wanting Ho, and Zhizhuang Zhao at the University of Oklahoma. The work was supported by grants from the National Institutes of Health (LM010685, LM011939, LM007359, HG004603, HG006378, HG008672, HG008341, RR024975, TR000445, GM114128, GM115305, GM120523, HL133786, HG009086).advertisementStory Source:Materials provided by Vanderbilt University Medical Center. Original written by Craig Boerner. Note: Content may be edited for style and length.Journal Reference:1.Lisa Bastarache, Jacob J. Hughey, Scott Hebbring, Joy Marlo, Wanke Zhao, Wanting T. Ho, Sara L. Van Driest, Tracy L. McGregor, Jonathan D. Mosley, Quinn S. Wells, Michael Temple, Andrea H. Ramirez, Robert Carroll, Travis Osterman, Todd Edwards, Douglas Ruderfer, Digna R. Velez Edwards, Rizwan Hamid, Joy Cogan, Andrew Glazer, Wei-Qi Wei, QiPing Feng, Murray Brilliant, Zhizhuang J. Zhao, Nancy J. Cox, Dan M. Roden, Joshua C. Denny. Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science, 2018; 359 (6381): 1233 DOI: 10.1126/science.aal4043Cite This Page:·MLA·APA·ChicagoVanderbilt University Medical Center. "New methods find undiagnosed genetic diseases in electronic health records." ScienceDaily. ScienceDaily, 15 March 2018. <New methods find undiagnosed genetic diseases in electronic health records>.Vanderbilt University Medical Center. (2018, March 15). New methods find undiagnosed genetic diseases in electronic health records. ScienceDaily. Retrieved March 17, 2018 from New methods find undiagnosed genetic diseases in electronic health recordsVanderbilt University Medical Center. "New methods find undiagnosed genetic diseases in electronic health records." ScienceDaily. New methods find undiagnosed genetic diseases in electronic health records (accessed March 17, 2018).advertisementPreliminary: BRCA Variations May Work Alongside COMT Variation to Reduce Breast CancerMay 25, 2017 — Researchers find through looking at genetic data sets of presumed cancer-free women who carry BRCA 1/2 variants, the co-occurrence of a rare COMT genetic variant in some women. 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