Sarcoidosis and granuloma genes: a family-based study in African-Americans

The European Respiratory Journal
B RybickiM C Iannuzzi

Abstract

The evidence for a genetic component in the aetiology of sarcoidosis includes familial aggregation, associations with genetic polymorphisms, and linkage to the major histocompatibility complex class region on chromosome 6p. Unfortunately, the majority of genetic associations with sarcoidosis have not been consistently replicated. In the present study, using a family-based study design, which controls for population stratification, the authors attempted to replicate previously reported associations between sarcoidosis and three attractive candidate genes studied primarily in case-control samples. In 225 nuclear families, ascertained through African Americans with a history of sarcoidosis, no evidence was found for an association between sarcoidosis susceptibility and polymorphisms in the angiotensin converting enzyme, vitamin D receptor and tumour necrosis factor-alpha genes. Further analyses of chronic and acute disease phenotypes failed to reveal any notable associations. Assuming an underlying inheritance model with an additive allelic effect on disease risk, the current study had approximately 80-90% statistical power to detect a 3-fold increased risk associated with the putative risk allele of the polymorphisms under study....Continue Reading

Citations

Sep 5, 2007·Journal of Human Genetics·Igor MedicaBorut Peterlin
Nov 23, 2007·The New England Journal of Medicine·Michael C IannuzziAlvin S Teirstein
Jan 5, 2007·Proceedings of the American Thoracic Society·Michael C Iannuzzi, Benjamin A Rybicki
Oct 6, 2009·Medicina clínica·Francesc Fernández MonràsAntonio Martínez
Jun 15, 2007·Clinics in Dermatology·Paolo Spagnolo, Roland M du Bois
Jun 15, 2007·Clinics in Dermatology·Daniel A CulverMani S Kavuru
Mar 4, 2008·Clinical Genetics·G SmithS Prystowsky
May 28, 2014·Australian Dental Journal·M H MotswalediL Feller
Sep 9, 2006·American Journal of Human Genetics·Cheryl L ThompsonUNKNOWN Sarcoidosis Genetic Analysis Consortium (SAGA)
Nov 26, 2015·Clinics in Chest Medicine·Tasha E FingerlinLisa A Maier
Jun 14, 2005·Genes and Immunity·M C IannuzziB A Rybicki
Jul 14, 2011·Nature Reviews. Rheumatology·Edward S Chen, David R Moller
Jun 28, 2020·Seminars in Respiratory and Critical Care Medicine·Avrom CaplanSotonye Imadojemu
Jan 20, 2021·BMJ Case Reports·Iman Usama HosniNeil Opie
Oct 11, 2019·Circulation Journal : Official Journal of the Japanese Circulation Society·Fumio TerasakiUNKNOWN Japanese Circulation Society Joint Working Group

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