Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults

Hum Mol Genet. 2010 May 15;19(10):2050-8. doi: 10.1093/hmg/ddq062. Epub 2010 Feb 13.

Abstract

Plasma homocysteine (Hcy) level is associated with cardiovascular disease and may play an etiologic role in vascular damage, a precursor for atherosclerosis. We performed a genome-wide association study for Hcy in 1786 unrelated Filipino women from the Cebu Longitudinal Health and Nutrition Survey (CLHNS). The most strongly associated single-nucleotide polymorphism (SNP) (rs7422339, P = 4.7 x 10(-13)) encodes Thr1405Asn in the gene CPS1 and explained 3.0% of variation in the Hcy level. The widely studied MTHFR C677T SNP (rs1801133) was also highly significant (P = 8.7 x 10(-10)) and explained 1.6% of the trait variation. We also genotyped these two SNPs in 1679 CLHNS young adult offspring. The MTHFR C677T SNP was strongly associated with Hcy (P = 1.9 x 10(-26)) and explained approximately 5.1% of the variation in the offspring. In contrast, the CPS1 variant was significant only in females (P = 0.11 in all; P = 0.0087 in females). Combined analysis of all samples confirmed that the MTHFR variant was more strongly associated with Hcy in the offspring (interaction P = 1.2 x 10(-5)). Furthermore, although there was evidence for a positive synergistic effect between the CPS1 and MTHFR SNPs in the offspring (interaction P = 0.0046), there was no significant evidence for an interaction in the mothers (P = 0.55). These data confirm a recent finding that CPS1 is a locus influencing Hcy levels in women and suggest that genetic effects on Hcy may differ across developmental stages.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Carbamoyl-Phosphate Synthase (Ammonia) / genetics*
  • Cardiovascular Diseases / genetics
  • Female
  • Follow-Up Studies
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Health Surveys
  • Homocysteine / blood*
  • Humans
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Mothers
  • Nutrition Surveys
  • Philippines
  • Polymorphism, Single Nucleotide / genetics
  • Quantitative Trait Loci / genetics
  • Reproducibility of Results
  • Young Adult

Substances

  • Homocysteine
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Carbamoyl-Phosphate Synthase (Ammonia)