Causal inference of body weight change from 20 years old to metabolic diseases.

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K24221
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Multi-year Fund
• Review Section: 0908:Society medicine, nursing, and related fields
• Research Institution: Tohoku University
• Principal Investigator: Kitajima Hidetoshi 東北大学, 未来型医療創成センター, 助教 (60846799)
• Project Period (FY): 2019-08-30 – 2022-03-31
• Keywords: 20歳時の体重

Outline of Final Research Achievements

We conducted genome-wide association studies of body weight of 20 years old in 17,231 male subjects and 28,464 female subjects from Tohoku Medical Megabank project. We extracted subjects in Japanese cluster by principal component analysis with 1000 genome projects phase 3 data. We identified total 13 loci at genome-wide significance (p<5x10-9), 11 loci (SEC16B, TMEM18, POMC, HMGA1, GRID1, ZNF143, METTL15, FAIM2, FTO, and MC4R) reached genome-wide significance in gender-combined analyses and two loci (NSD1 and LEP) in female only analyses. Conditional analyses did not detect secondary signals in these regions. Fine-mapping analyses detected four signals (LEP, GRID1, ZNF143, and FAIM2) for which less than ten variants accounted for more than 99% of the posterior probability of driving the association.

Free Research Field

糖尿病

Academic Significance and Societal Importance of the Research Achievements

観察研究にて生活習慣病との相関が報告されているものの、約５０万人のイギリス人一般住民集団の基本情報、健康調査情報、および遺伝子多型情報を有するUKバイオバンクなどの大規模なバイオバンクには備わっていない「20歳時の体重」という値に着目して、日本人一般住民集団約４万５千人を用いた大規模な全ゲノム関連解析を、男女混合解析に加え、男性のみ、女性のみの解析も行ったこと。