rs117506082 - HCG27 - HLA-C

Magnitude 4.5 · 1 study on file

Reported associations

• Genetic Analysis of Ulcerative Colitis in Japanese Individuals Using Population-specific SNP Array. - Inflammatory bowel diseases (2021) · Okamoto D, Kawai Y, Kakuta Y, Naito T, Torisu T, Hirano A, Umeno J, Fuyuno Y, Li D, Nakano T, Izumiyama Y, Ichikawa R, Hiramoto K, Moroi R, Kuroha M, Kanazawa Y, Shiga H, Tokunaga K, Nakamura M, Esaki M, Matsumoto T, McGovern DPB, Nagasaki M, Kinouchi Y, Masamune A · PubMed 32072174

  To clarify the genetic background of ulcerative colitis (UC) in the Japanese population, we conducted a genome-wide association study (GWAS) using a population-specific single nucleotide polymorphism (SNP) array. We performed a GWAS and replication study including 1676 UC patients and 2381 healthy controls. The probability of colectomy was compared between genotypes of rs117506082, the top hit SNP at HLA loci, by the Kaplan-Meier method. We studied serum expression of miR-622, a newly identified candidate gene, from 32 UC patients and 8 healthy controls by quantitative reverse-transcription polymerase chain reaction. In the GWAS, only the HLA loci showed genome-wide significant associations with UC (rs117506082, P = 6.69E-28). Seven nominally significant regions included 2 known loci, IL23

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