Expressive

rs11613092 - SUDS3 - LINC02460

Magnitude 4.5 · 2 studies on file

Reported associations

  • A genome-wide association study of late-onset Alzheimer's disease in a Japanese population. - Psychiatric genetics (2016) · Hirano A, Ohara T, Takahashi A, Aoki M, Fuyuno Y, Ashikawa K, Morihara T, Takeda M, Kamino K, Oshima E, Okahisa Y, Shibata N, Arai H, Akatsu H, Ikeda M, Iwata N, Ninomiya T, Monji A, Kitazono T, Kiyohara Y, Kubo M, Kanba S · PubMed 26049409

    Although a number of genome-wide association studies (GWASs) of late-onset Alzheimer's disease (LOAD) have been carried out, there have been little GWAS data on East Asian populations. To discover the novel susceptibility loci of LOAD, we carried out a GWAS using 816 LOAD cases and 7992 controls with a replication analysis using an independent panel of 1011 LOAD cases and 7212 controls in a Japanese population. In addition, we carried out a stratified analysis by APOE-ε4 status to eliminate the established effect of APOE region. Our data indicated that 18p11.32 (rs1992269, P = 9.77 × 10(-7)), CNTNAP2 (rs802571, P = 1.26 × 10(-6)), and 12q24.23 (rs11613092, P = 6.85 × 10(-6)) were suggestive loci for susceptibility to LOAD. We identified three suggestive loci for susceptibility to LOAD

  • Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. - British journal of haematology (2012) · Oudot-Mellakh T, Cohen W, Germain M, Saut N, Kallel C, Zelenika D, Lathrop M, Trégouët DA, Morange PE · PubMed 22443383

    Deficiencies of antithrombin (AT), protein C (PC) and protein S (PS) or an impaired PC anticoagulant pathway increase the risk of venous thrombosis (VT). By conducting a genome-wide association study (GWAS) on two independent samples of VT patients totalling 951 subjects typed for 472 173 single nucleotide polymorphisms (SNPs), we observed that common SNPs explain 21% and 27% of the genetic variance of plasma AT and PS levels, even though no SNP reached genome-wide significance. For PC, we showed that two PROCR SNPs, rs867186 (Ser219Gly) and rs6060278, additionally explained c. 20% (P = 1·19 × 10(-31)) of the variance of plasma PC levels. We also observed that c. 40% of the remaining genetic variance of PC levels could be due to yet unidentified common SNPs. The PROCR locus was also foun

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