Effect of microsomal triglyceride transfer protein gene variants (-493G > T, Q95H and H297Q) on plasma lipid levels in healthy middle-aged UK men

Ann Hum Genet. 2000 Jul;64(Pt 4):269-76. doi: 10.1017/S0003480000008150.

Abstract

Microsomal triglyceride transfer protein (MTP) plays a central role in the synthesis of lipoproteins by shuttling lipids between phospholipid membranes to apoB. We have examined the effect of three MTP gene variants, -493G > T, Q95H and H297Q, in 2831 healthy UK middle-aged men. The rare allele frequencies were: 0.25 (95% CI 0.24-0.26) for -493T, 0.054 (95% CI 0.05-0.06) for 95H and 0.32 (95% CI 0.31-0.33) for 297Q. The three variants were in strong allelic association in all pairwise combinations (p < 0.001). None of the variant sites were associated with significant differences in cholesterol, triglyceride, apoB or apoAI levels. When stratified by tertiles of triglycerides for the H297Q variant alone there was a significant effect on apoB levels in men in the top tertile (p = 0.01). Considering the -493G > T and H297Q genotype in combination on baseline levels, individuals with three or four rare alleles had 6.6% higher mean apoB levels compared to the rest (p = 0.007). Therefore, homozygosity for 297Q at higher triglyceride (Tg) levels, or in combination with -493G > T, is associated with a raising effect on apoB levels, suggesting the importance of modest differences in MTP activity in determining hepatic secretion of lipoproteins in healthy men.

Publication types

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

MeSH terms

  • Alleles
  • Apolipoproteins B / blood
  • Base Sequence
  • Carrier Proteins / genetics*
  • Cholesterol / blood
  • Chromosome Mapping
  • DNA Primers / genetics
  • Gene Frequency
  • Genetic Variation*
  • Humans
  • Linkage Disequilibrium
  • Lipids / blood*
  • Male
  • Microsomes / metabolism
  • Middle Aged
  • Triglycerides / blood
  • Triglycerides / metabolism
  • United Kingdom

Substances

  • Apolipoproteins B
  • Carrier Proteins
  • DNA Primers
  • Lipids
  • Triglycerides
  • microsomal triglyceride transfer protein
  • Cholesterol