Expressive

rs12031579 - WARS2-AS1

Magnitude 4.5 · 2 studies on file

Reported associations

  • GWAS of five gynecologic diseases and cross-trait analysis in Japanese. - European journal of human genetics : EJHG (2021) · Masuda T, Low SK, Akiyama M, Hirata M, Ueda Y, Matsuda K, Kimura T, Murakami Y, Kubo M, Kamatani Y, Okada Y · PubMed 31488892

    We performed genome-wide association studies of five gynecologic diseases using data of 46,837 subjects (5236 uterine fibroid, 645 endometriosis, 647 ovarian cancer (OC), 909 uterine endometrial cancer (UEC), and 538 uterine cervical cancer (UCC) cases allowing overlaps, and 39,556 shared female controls) from Biobank Japan Project. We used the population-specific imputation reference panel (n = 3541), yielding 7,645,193 imputed variants. Analyses performed under logistic model, linear mixed model, and model incorporating correlations identified nine significant associations with three gynecologic diseases including four novel findings (rs79219469:C > T, LINC02183, P = 3.3 × 10 and rs567534295:C > T, BRCA1, P = 3.1 × 10 with OC, rs150806792:C > T, INS-IGF2

  • Genome-wide association study (GWAS) of ovarian cancer in Japanese predicted regulatory variants in 22q13.1. - PloS one (2019) · Yodsurang V, Tang Y, Takahashi Y, Tanikawa C, Kamatani Y, Takahashi A, Momozawa Y, Fuse N, Sugawara J, Shimizu A, Fukushima A, Hishida A, Furusyo N, Naito M, Wakai K, Yamaji T, Sawada N, Iwasaki M, Tsugane S, Hirata M, Murakami Y, Kubo M, Matsuda K · PubMed 30557369

    Genome-wide association studies (GWAS) have identified greater than 30 variants associated with ovarian cancer, but most of these variants were investigated in European populations. Here, we integrated GWAS and subsequent functional analyses to identify the genetic variants with potential regulatory effects. We conducted GWAS for ovarian cancer using 681 Japanese cases and 17,492 controls and found that rs137672 on 22q13.1 exhibited a strong association with a P-value of 1.05 × 10(-7) and an odds ratio of 0.573 with a 95% confidence interval of 0.466-0.703. In addition, three previously reported SNPs, i.e., rs10088218, rs9870207 and rs1400482, were validated in the Japanese population (P < 0.05) with the same risk allele as noted in previous studies. Functional studies including regulator

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