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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1002/ban.30021

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1432-1203

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Replication of genetic loci for sarcoidosis in US

Authors: Yvette Cozier Edward RuizNarvaez Craig McKinnon Jeffrey Berman Lynn Rosenberg Julie Palmer
Publish Date: 2013/03/31
Volume: 132, Issue: 7, Pages: 803-810
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Abstract

In the United States incidence and mortality from sarcoidosis a chronic granulomatous disease are increased in black women In data from the Black Women’s Health Study a followup of US black women we assessed two SNPs rs2076530 and rs9268480 previously identified in the BTNL2 gene chromosome 6p21 of which rs4424066 and rs3817963 are perfect proxies to determine if they represent independent signals of disease risk We also assessed whether local ancestry in four genomic regions previously identified through admixture mapping was associated with sarcoidosis Finally we assessed the relation of global percent African ancestry to risk We conducted a nested case–control study of 486 sarcoidosis cases and 943 age and geographymatched controls Both BTNL2 SNPs were associated with risk of sarcoidosis in separate models but in a combined analysis the increased risk was due to the Aallele of the rs3817963 SNP each copy of the Aallele was associated with a 40  increase in risk of sarcoidosis p = 002 and was confirmed by our haplotypic analysis Local African ancestry around the rs30533 ancestry informative marker at chromosome 5q31 was associated with a 29  risk reduction p = 001 Therefore we adjusted our analysis of global African ancestry for number of copies of African alleles in rs30533 Subjects in the highest quintile of percent African ancestry had a 54  increased risk of sarcoidosis The present results from a population of AfricanAmerican women support the role of the BTNL2 gene and the 5q31 locus in the etiology of sarcoidosis and also demonstrate that percent African ancestry is associated with disease riskThis work was supported by Grant K01HL088709 from the National Heart Lung and Blood Institute and grants CA058420 and CA098663 from the Division of Cancer Control and Population Science National Cancer Institute http//wwwcancercontrolcancergov The content is solely the responsibility of the authors and does not necessarily represent the official view of the National Institutes of Health

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