Genome-wide association study identifies 112 new loci for body mass index in the Japanese population

Nat Genet. 2017 Oct;49(10):1458-1467. doi: 10.1038/ng.3951. Epub 2017 Sep 11.


Obesity is a risk factor for a wide variety of health problems. In a genome-wide association study (GWAS) of body mass index (BMI) in Japanese people (n = 173,430), we found 85 loci significantly associated with obesity (P < 5.0 × 10-8), of which 51 were previously unknown. We conducted trans-ancestral meta-analyses by integrating these results with the results from a GWAS of Europeans and identified 61 additional new loci. In total, this study identifies 112 novel loci, doubling the number of previously known BMI-associated loci. By annotating associated variants with cell-type-specific regulatory marks, we found enrichment of variants in CD19+ cells. We also found significant genetic correlations between BMI and lymphocyte count (P = 6.46 × 10-5, rg = 0.18) and between BMI and multiple complex diseases. These findings provide genetic evidence that lymphocytes are relevant to body weight regulation and offer insights into the pathogenesis of obesity.

Publication types

  • Comparative Study
  • Meta-Analysis

MeSH terms

  • Asian Continental Ancestry Group / genetics*
  • Body Mass Index*
  • Body Weight / genetics
  • Body Weight / physiology
  • Comorbidity
  • Diabetes Mellitus, Type 2 / ethnology
  • Diabetes Mellitus, Type 2 / genetics
  • Europe / epidemiology
  • European Continental Ancestry Group / genetics
  • Genome-Wide Association Study*
  • Humans
  • Japan / epidemiology
  • Lymphocyte Count
  • Obesity / ethnology
  • Obesity / genetics*
  • Obesity / immunology
  • Polymorphism, Single Nucleotide