Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
PLoS One. 2013 May 21;8(5):e63698. doi: 10.1371/journal.pone.0063698. Print 2013.
Peptic ulcer is one of the most common gastrointestinal disorders with complex etiology. Recently we conducted the genome wide association study for duodenal ulcer and identified disease susceptibility variations at two genetic loci corresponding to the Prostate stem cell antigen (PSCA) gene and the ABO blood group (ABO) gene. Here we investigated the association of these variations with gastric ulcer in two Japanese case-control sample sets, a total of 4,291 gastric ulcer cases and 22,665 controls. As a result, a C-allele of rs2294008 at PSCA increased the risk of gastric ulcer with odds ratio (OR) of 1.13 (P value of 5.85×10(-7)) in an additive model. On the other hand, SNP rs505922 on ABO exhibited inconsistent result between two cohorts. Our finding implies presence of the common genetic variant in the pathogenesis of gastric and duodenal ulcers.
消化性溃疡是最常见的胃肠道疾病之一,其病因复杂。最近,我们针对十二指肠溃疡开展了全基因组关联研究,在前列腺干细胞抗原(PSCA)基因和 ABO 血型(ABO)基因两个遗传位点发现了与疾病易感性相关的变异。在此,我们在两个日本病例对照样本集中研究了这些变异与胃溃疡的关系,共纳入 4291 例胃溃疡病例和 22665 例对照。结果发现,PSCA 上 rs2294008 的 C 等位基因在加性模型中使胃溃疡的风险增加,比值比(OR)为 1.13(P 值为 5.85×10(-7))。另一方面,ABO 上的 SNP rs505922 在两个队列之间的结果不一致。我们的发现表明,常见的遗传变异存在于胃溃疡和十二指肠溃疡的发病机制中。