rs11788518 - PCSK5
Magnitude 2.8 · 1 study on file
Reported associations
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Identification of Loci at 1q21 and 16q23 That Affect Susceptibility to Inflammatory Bowel Disease in Koreans. - Gastroenterology (2017) · Yang SK, Hong M, Oh H, Low HQ, Jung S, Ahn S, Kim Y, Baek J, Lee CH, Kim E, Kim KM, Ye BD, Kim KJ, Park SH, Lee HS, Lee I, Shin HD, Han B, McGovern DP, Liu J, Song K · PubMed 27569725
Recent genome-wide association studies have identified more than 200 regions that affect susceptibility to inflammatory bowel disease (IBD). However, identified common variants account for only a fraction of IBD heritability and largely have been identified in populations of European ancestry. We performed a genome-wide association study of susceptibility loci in Korean individuals, comprising a total of 1505 IBD patients and 4041 controls. We identified 2 new susceptibility loci for IBD at genome-wide significance: rs3766920 near PYGO2-SHC1 at 1q21 and rs16953946 in CDYL2 at 16q23. In addition, we confirmed associations, in Koreans, with 28 established IBD loci (P < 2.16 × 10 ). Our findings support the complementary value of genetic studies in different populations.
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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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Genetic predisposition to inflammatory bowel disease Moderate
rs11788518 T-allele confers increased IBD genetic risk; clinician discussion establishes appropriate monitoring and preventive strategies
Screening
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Inflammatory bowel disease symptoms Moderate
PCSK5 rs11788518 T-allele is associated with 1.39x increased IBD risk; early detection enables timely intervention
Track persistent diarrhea, abdominal pain, rectal bleeding, or unexplained weight loss