摘要

Hyperlipidemia-related mechanisms have been associated with damage to the cardiovascular disease (CVD). Here, we discuss potential explanations for the higher prevalence of hyperlipidemia in the Jing and Han populations. Although genetic and environmental factors are the triggers, the search for the ethnic and gender related factors that explain the increased susceptibility of hyperlipidemia is a promising area for research. Ethnicity and gender differences could be the major confounding variable to prove genetic associations. Despite that, we investigated the ethnic and sex-specific association between the butyrophilin-like 2 gene (BTNL2) rs9268480 single nucleotide polymorphism (SNP) and several environmental factors with serum lipid profiles in the Jing and Han populations. Genotypes of the rs9268480 SNP, clinical and biochemical measurements were characterized in a total of 2503 subjects (1148 Jing and 1355 Han). Jing populations had higher serum total cholesterol (TC), triglyceride (TG) and low-density lipoprotein cholesterol (LDL-C) levels and lower apolipoprotein (Apo) A1 levels and the ratio of ApoA1 to ApoB than in Han. The frequency of susceptibility alleles of rs9268480 C > T were significantly different between the two populations (20.86% vs. 18.16%; P = 0.016), and between males and females in Jing (17.18% vs. 24.65%; P < 0.001) and Han (16.57% vs. 19.88%; P = 0.026) populations. The minor T allele carriers of BTNL2 rs9268480 SNP was a risk allele for dyslipidemia, especially higher serum TG levels in ethnic and sexually dimorphic subgroup. These results suggested that the genetic variant of rs9268480 C > T and several environmental factors were associated with hyperlipidemia, and there may be a ethnic- and/or sex-specific association of this SNP.