rs12146962 - AKAP6 - NPAS3
Magnitude 2.2 · 1 study on file
Reported associations
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A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. - Nature genetics (2012) · Lin Z, Bei JX, Shen M, Li Q, Liao Z, Zhang Y, Lv Q, Wei Q, Low HQ, Guo YM, Cao S, Yang M, Hu Z, Xu M, Wang X, Wei Y, Li L, Li C, Li T, Huang J, Pan Y, Jin O, Wu Y, Wu J, Guo Z, He P, Hu S, Wu H, Song H, Zhan F, Liu S, Gao G, Liu Z, Li Y, Xiao C, Li J, Ye Z, He W, Liu D, Shen L, Huang A, Wu H, Tao Y, Pan X, Yu B, Tai ES, Zeng YX, Ren EC, Shen Y, Liu J, Gu J · PubMed 22138694
To identify susceptibility loci for ankylosing spondylitis, we performed a two-stage genome-wide association study in Han Chinese. In the discovery stage, we analyzed 1,356,350 autosomal SNPs in 1,837 individuals with ankylosing spondylitis and 4,231 controls; in the validation stage, we analyzed 30 suggestive SNPs in an additional 2,100 affected individuals and 3,496 controls. We identified two new susceptibility loci between EDIL3 and HAPLN1 at 5q14.3 (rs4552569; P = 8.77 × 10(-10)) and within ANO6 at 12q12 (rs17095830; P = 1.63 × 10(-8)). We also confirmed previously reported associations in Europeans within the major histocompatibility complex (MHC) region (top SNP, rs13202464; P < 5 × 10(-324)) and at 2p15 (rs10865331; P = 1.98 × 10(-8)). We show that rs13202464 within the MHC reg
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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ankylosing spondylitis genetic risk and screening Moderate
This variant is associated with increased risk for ankylosing spondylitis, a chronic inflammatory arthritis affecting the spine and joints.
Discuss genetic risk stratification and early screening or monitoring for ankylosing spondylitis.