Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes

Sci Adv. 2022 Nov 18;8(46):eadd5430. doi: 10.1126/sciadv.add5430. Epub 2022 Nov 16.

Abstract

We performed collapsing analyses on 454,796 UK Biobank (UKB) exomes to detect gene-level associations with diabetes. Recessive carriers of nonsynonymous variants in MAP3K15 were 30% less likely to develop diabetes (P = 5.7 × 10-10) and had lower glycosylated hemoglobin (β = -0.14 SD units, P = 1.1 × 10-24). These associations were independent of body mass index, suggesting protection against insulin resistance even in the setting of obesity. We replicated these findings in 96,811 Admixed Americans in the Mexico City Prospective Study (P < 0.05)Moreover, the protective effect of MAP3K15 variants was stronger in individuals who did not carry the Latino-enriched SLC16A11 risk haplotype (P = 6.0 × 10-4). Separately, we identified a Finnish-enriched MAP3K15 protein-truncating variant associated with decreased odds of both type 1 and type 2 diabetes (P < 0.05) in FinnGen. No adverse phenotypes were associated with protein-truncating MAP3K15 variants in the UKB, supporting this gene as a therapeutic target for diabetes.

MeSH terms

  • Diabetes Mellitus, Type 2* / genetics
  • Genetic Predisposition to Disease
  • Humans
  • MAP Kinase Kinase Kinases* / genetics
  • Monocarboxylic Acid Transporters / genetics
  • Obesity / genetics
  • Prospective Studies

Substances

  • Monocarboxylic Acid Transporters
  • SLC16A11 protein, human
  • MAP3K15 protein, human
  • MAP Kinase Kinase Kinases