University of the Ryukyus · Faculty of Medicine · 准教授

Research keywordsHuman Genetics・Genome-Wide Association Studies・Type 2 Diabetes Genetics・Precision Medicine・Metabolic Disorders・Diabetic Complications・Kidney Disease Genetics・Population Genomics

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• A variant in HMMR/HMMR-AS1 is associated with serum alanine aminotransferase levels in the Ryukyu population2025 · The Ryukyu archipelago is located southwest of the Japanese islands, and people originally from this region, the Ryukyu population, have a unique genetic background distinct from that of other populations, including people from mainland Japan. However, few genetic studies have focused on the Ryukyu population. In this study, we performed genome-wide association studies (GWAS) on the serum levels of alanine aminotransferase (ALT, n = 15,224), aspartate aminotransferase (AST, n = 15,203), and gamma-glutamyl transferase (GGT, n = 14,496) in the Ryukyu population. We found 13 loci with a genome-wide significant association (P < 5 × 10-8), three for ALT, four for AST, and six for GGT, including one novel locus associated with ALT: rs117595134-A in HMMR/HMMR-AS1, ß = - 0.131, standard error = 0.024, P = 4.90 × 10-8. Rs117595134-A is common in the Japanese population but is not observed in other ethnic populations in the 1000 genomes database. Additionally, 77 of 80 loci derived from Korean GWAS and 541 of 716 loci from European GWAS showed the same directions of effect (P = 1.41 × 10-19, P = 2.50 × 10-44, binomial test), indicating that most of susceptibility loci are shared between the Ryukyu population and other ethnic populations.
• Genetic studies on metabolic disorder-associated kidney diseases.2025 · Imamura M, Kadowaki T, Maeda S
• Genome-wide association studies for pelvic organ prolapse in the Japanese population2024 · Pelvic organ prolapse (POP) affects approximately 40% of elderly women, characterized by thedescent of the pelvic organs into the vaginal cavity. Here we present the results of a genome-wideassociation study (GWAS) for susceptibility to POP comprising 771 cases and 76,625 controls in theJapanese population. We identified a significant association of WT1 locus with POP in the Japanesepopulation; rs10742277; odds ratio (OR) = 1.48, 95% confidence interval (CI), 1.29–1.68,P = 6.72 × 10−9. Subsequent cross-ancestry GWAS meta-analysis combining the Japanese data andpreviously reported European data, including 28,857 cases and 622,916 controls, identified FGFR2locus as a novel susceptibility locus to POP (rs7072877; OR = 1.06, 95% CI, 1.04–1.08,P = 4.11 × 10−8). We also observed consistent directions of the effects for 21 out of 24 European GWASderived loci (binomial test P = 2.8 × 10−4), indicating that most of susceptibility loci for POP are sharedacross the Japanese and European populations.
• Genetic studies of type 2 diabetes, and microvascular complications of diabetes2024 · Imamura, M; Maeda, S

• 新たなゲノム創薬手法により同定されたKIF11阻害薬の耐糖能改善機序の解明2020 · 基盤研究(C)
• 新たなゲノム創薬手法による新規2型糖尿病治療標的の同定2017 · ゲノムワイド関連解析（GWAS）によりこれまでに200以上の2型糖尿病の疾患感受性遺伝子領域が同定されている。我々はGWASの成果を応用した新しいゲノム創薬手法により複数の2型糖尿病に対する新規の治療薬候補を同定した。本研究ではその一つであるKIF11阻害剤の血糖改善効果を2型糖尿病モデルマウスを用いて評価した。KIF11阻害薬は肥満2型糖尿病モデルマウスの耐糖能障害を改善し、その機序は肝臓でのインスリン抵抗性改善であることが示唆された。
• ゲノムワイド関連解析で同定された新規2型糖尿病関連領域の疾患感受性機序の検討2014 · C2CD4A-C2CD4B領域の疾患感受性機序を解明するため、同領域の詳細な多型検索および関連解析を行い機能性多型候補の探索を行った。最も疾患との関連が強い一塩基多型は両遺伝子の間(intergenic region)に位置しており、疾患感受性機序はC2CD4A、C2CD4Bいずれかの発現量の変化を介している可能性が考えられた。さらに、ヒト、マウスにおける両遺伝子の発現パターンの検討から、両遺伝子は膵β細胞において重要な役割を持つことが示唆された。そこで、膵β細胞におけるC2cd4aおよびC2cd4bの役割を明らかにするために、膵β細胞特異的トランスジェニックマウスを作成し、耐糖能を評価した。
• 新規2型糖尿病疾患感受性遺伝子領域 の疾患感受性機序の検討2013 · ■■■

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