Model-fitting and linkage analysis of sodium-lithium countertransport

Eur J Hum Genet. 2004 Dec;12(12):1055-61. doi: 10.1038/sj.ejhg.5201262.

Abstract

Increased sodium-lithium countertransport activity (SLC) associates with hypertension and is highly heritable, yet the underlying genes remain unknown. SLC, measured on 1113 and remeasured 2-3 years later on 675 adult members of 48 Utah pedigrees, was tested for candidate gene association, major locus inheritance, and linkage to genome scan markers using a bivariate model with genotype-specific effects of age, body mass index (BMI), and triglycerides level (TG). No effect of the alpha-adducin Gly460Trp polymorphism on SLC was found. In contrast, SLC increased with age in carriers of apolipoproteinE varepsilon2 (85 individuals; 8.7% of the sample) and decreased in noncarriers. Model-fitting analyses inferred two additional loci with genotype-specific responses to BMI and TG. Using the inferred model, lod scores >2 were obtained for D3S3038, D11S4464, and D10S677 for the BMI-responsive locus, and for D8S1048 for the TG-responsive locus.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Antiporters / genetics*
  • Antiporters / metabolism
  • Female
  • Genetic Linkage*
  • Humans
  • Likelihood Functions
  • Lithium / metabolism*
  • Lod Score
  • Male
  • Middle Aged
  • Models, Genetic
  • Sodium / metabolism*

Substances

  • Antiporters
  • sodium-lithium countertransporter
  • Lithium
  • Sodium