A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population

Chizu Tanikawa, Yuji Urabe, Keitaro Matsuo, Michiaki Kubo, Atsushi Takahashi, Hidemi Ito, Kazuo Tajima, Naoyuki Kamatani, Yusuke Nakamura, Koichi Matsuda

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Abstract

Through a genome-wide association analysis with a total of 7,035 individuals with duodenal ulcer and 25,323 controls from Japan, we identified two susceptibility loci at the PSCA gene (encoding prostate stem cell antigen) at 8q24 and at the ABO blood group locus at 9q34. The C allele of rs2294008 at PSCA was associated with increased risk of duodenal ulcer (odds ratio (OR) = 1.84; P = 3.92 x 10 -33) in a recessive model but was associated with decreased risk of gastric cancer (OR = 0.79; P = 6.79 x 10 -12), as reported previously. The T allele of rs2294008 encodes a translation initiation codon upstream of the reported site and changes protein localization from the cytoplasm to the cell surface. rs505922 at ABO was also associated with duodenal ulcer in a recessive model (OR = 1.32; P = 1.15 x 10 -10). Our findings demonstrate a role for genetic variants in the pathogenesis of duodenal ulcer.

Original languageEnglish
Pages (from-to)430-434
Number of pages5
JournalNature Genetics
Volume44
Issue number4
DOIs
Publication statusPublished - 01-04-2012

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All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Tanikawa, C., Urabe, Y., Matsuo, K., Kubo, M., Takahashi, A., Ito, H., Tajima, K., Kamatani, N., Nakamura, Y., & Matsuda, K. (2012). A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population. Nature Genetics, 44(4), 430-434. https://doi.org/10.1038/ng.1109