森谷, 眞紀 The University of Tokushima
棚橋, 俊仁 The University of Tokushima
Osabe, Dai Fujitsu Limited
Nomura, Kyoko Fujitsu Limited
Fujita, Yuka The University of Tokushima
Keshavarz, Parvaneh The University of Tokushima
Kunika, Kiyoshi The University of Tokushima
Nakamura, Naoto Kyoto Prefectural University of Medicine
吉川, 敏一 Kyoto Prefectural University of Medicine
Ichiishi, Eiichiro Tohoku University
井上, 寛 The University of Tokushima
Background: Chromosome 15q14-22.1 has been linked to type 2 diabetes (T2D) and its related traits in Japanese and other populations. The presence of T2D disease susceptibility variant(s) was assessed in the 21.8 Mb region between D15S118 and D15S117 in a Japanese population using a region-wide case-control association test.
Methods: A two-stage association test was performed using Japanese subjects: The discovery panel (Stage 1) used 372 cases and 360 controls, while an independent replication panel (Stage 2) used 532 cases and 530 controls. A total of 1,317 evenly-spaced, common SNP markers with minor allele frequencies > 0.10 were typed for each stage. Captured genetic variation was examined in HapMap JPT SNPs, and a haplotype-based association test was performed.
Results: SNP2140 (rs2412747) (C/T) in intron 33 of the ubiquitin protein ligase E3 component n-recognin 1 (UBR1) gene was selected as a landmark SNP based on repeated significant associations in Stage 1 and Stage 2. However, the marginal p value (p = 0.0043 in the allelic test, OR = 1.26, 95% CI = 1.07–1.48 for combined samples) was weak in a single locus or haplotype-based association test. We failed to find any significant SNPs after correcting for multiple testing.
Conclusion: The two-stage association test did not reveal a strong association between T2D and any common variants on chromosome 15q14-22.1 in 1,794 Japanese subjects. A further association test with a larger sample size and denser SNP markers is required to confirm these observations.
BMC Medical Genetics
BioMed Central|Springer Nature
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