In obese and non-obese adults, the cis-regulatory rs361072 promoter variant of PIK3CB is associated with insulin resistance not with type 2 diabetes

Mol Genet Metab. 2009 Mar;96(3):129-32. doi: 10.1016/j.ymgme.2008.11.160. Epub 2008 Dec 18.

Abstract

We recently reported that rs361072, a promoter C/T variant of p110beta, the catalytic subunit of PI3-kinase, was associated with a protection from insulin resistance (IR) in Caucasian adolescents in proportion of their body mass. We tested if this cis-regulatory QTL is associated with IR and type 2 diabetes in 7885 middle-aged obese and non-obese adults of European ancestry. We genotyped rs361072 in 1139 non-diabetic obese (NDO) European adults, in whom IR was estimated by the HOMA-IR index. We also studied 427 type 2 diabetic obese adults (DO) and 424 diabetic non-obese (DNO) adults to test whether their disease status was associated with a decreased prevalence of the protective variant. The prevalence of rs361072 and association with IR was also examined in 5895 non-obese non-diabetic adults (NDNO). rs361072 was associated with HOMA-IR (p=4.10(-4)) in NDO, so that C/C patients had a 17% decrease of this index (p=0.002). A statistical trend (p=1.1.10(-2)) for the same genotypic differences was also observed in NDNO adults, but of insignificant magnitude (4.2%). The distribution of rs361072 genotype was comparable in NDO, DO, DNO and NDNO individuals. Allele C of rs361072 is associated with a protection from IR in obese and non-obese adults, but has no significant effect, however, on diabetes risk in obese or non-obese Europeans.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Class I Phosphatidylinositol 3-Kinases
  • Cohort Studies
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Genetic Variation
  • Genotype
  • Humans
  • Insulin Resistance / genetics*
  • Male
  • Middle Aged
  • Obesity / genetics*
  • Phosphatidylinositol 3-Kinases / genetics*
  • Promoter Regions, Genetic*
  • White People / genetics

Substances

  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CB protein, human