rs12110437 - POLR1HASP

Magnitude 2.0 · 1 study on file

Reported associations

• Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study. - American journal of human genetics (2021) · Ortiz-Fernández L, Saruhan-Direskeneli G, Alibaz-Oner F, Kaymaz-Tahra S, Coit P, Kong X, Kiprianos AP, Maughan RT, Aydin SZ, Aksu K, Keser G, Kamali S, Inanc M, Springer J, Akar S, Onen F, Akkoc N, Khalidi NA, Koening C, Karadag O, Kiraz S, Forbess L, Langford CA, McAlear CA, Ozbalkan Z, Yavuz S, Çetin GY, Alpay-Kanitez N, Chung S, Ates A, Karaaslan Y, McKinnon-Maksimowicz K, Monach PA, Ozer HTE, Seyahi E, Fresko I, Cefle A, Seo P, Warrington KJ, Ozturk MA, Ytterberg SR, Cobankara V, Onat AM, Duzgun N, Bıcakcıgil M, Yentür SP, Lally L, Manfredi AA, Baldissera E, Erken E, Yazici A, Kısacık B, Kaşifoğlu T, Dalkilic E, Cuthbertson D, Pagnoux C, Sreih A, Reales G, Wallace C, Wren JD, Cunninghame-Graham DS, Vyse TJ, Sun Y, Chen H, Grayson PC, Tombetti E, Jiang L, Mason JC, Merkel PA, Direskeneli H, Sawalha AH · PubMed 33308445

  Takayasu arteritis is a rare inflammatory disease of large arteries. We performed a genetic study in Takayasu arteritis comprising 6,670 individuals (1,226 affected individuals) from five different populations. We discovered HLA risk factors and four non-HLA susceptibility loci in VPS8, SVEP1, CFL2, and chr13q21 and reinforced IL12B, PTK2B, and chr21q22 as robust susceptibility loci shared across ancestries. Functional analysis proposed plausible underlying disease mechanisms and pinpointed ETS2 as a potential causal gene for chr21q22 association. We also identified >60 candidate loci with suggestive association (p < 5 × 10 ) and devised a genetic risk score for Takayasu arteritis. Takayasu arteritis was compared to hundreds of other traits, revealing the closest genetic relatedness to i

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