2021 Fiscal Year Final Research Report
Identification of genetic susceptibility to urate-related diseases which is characteristic to Japanese and exploration of its preventive method through molecular genetic-epidemiological analyses
| Project/Area Number |
20K23152
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| Research Category |
Grant-in-Aid for Research Activity Start-up
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| Allocation Type | Multi-year Fund |
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| Review Section |
0908:Society medicine, nursing, and related fields
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| Research Institution | National Defense Medical College |
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Principal Investigator |
Nakayama Akiyoshi 防衛医科大学校(医学教育部医学科進学課程及び専門課程、動物実験施設、共同利用研究施設、病院並びに防衛, 分子生体制御学, 講師 (50876000)
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| Project Period (FY) |
2020-09-11 – 2022-03-31
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| Keywords | ゲノム個別化医療 / 痛風・高尿酸血症・低尿酸血症 / 痛風の病型分類 / 女性痛風 / ゲノムワイド関連解析（GWAS） / 次世代シーケンサー（NGS） |
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| Outline of Final Research Achievements |
We revealed novel gout loci from genome-wide association analyses (GWASs) with gout subtypes and reported a selection pressure on gout susceptibility in Japanese population. Furthermore, we conducted X-chromosome-wide association analyses on serum urate levels, inter-subtype GWASs on gout, and international collaborative meta-analysis of gout GWASs. Genetic analyses on female gout cases and analyses using next generation sequencer on renal hypouricemia (RHUC) were performed and their results are now under evaluation. Large-scaled analyses with health-check participants enabled accurate evaluation on frequencies and causal variants’ effect of RHUC, resulting in strong genetic evidences which could bring revisions of the present clinical practice guideline for RHUC.
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| Free Research Field |
分子遺伝疫学
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| Academic Significance and Societal Importance of the Research Achievements |
生活習慣病である痛風・高尿酸血症は、特に日本人において遺伝的要因が強い影響力を持つことが明らかとなってきた。また近年の疫学研究から、これらの疾患は慢性腎臓病や脳・心血管疾患との関連も示唆されるようになった。さらに、遺伝性疾患である腎性低尿酸血症は日本人で頻度が高い。本研究により痛風や高尿酸血症、低尿酸血症といった尿酸関連疾患の分子遺伝疫学的背景を明らかにすることは、病態解明に有用であるだけでなく、日本人に特徴的な尿酸関連疾患の個人差を同定し、それに基づくゲノム個別化医療としての新規治療法や予防法の開発につながることが期待できる。
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