Find in Library

<p>Abstract</p> <p>Background</p> <p>The association of ATP binding cassette transporter G8 gene (<it>ABCG8</it>) rs4148217 single nucleotide polymorphism (SNP) and serum lipid profiles is still controversial in diverse racial/ethnic groups. Mulao nationality is an isolated minority in China. The aim of this study was to evaluate the association of <it>ABCG8</it> rs4148217 SNP and several environmental factors with serum lipid levels in the Guangxi Mulao and Han populations.</p> <p>Methods</p> <p>A total of 634 subjects of Mulao nationality and 717 participants of Han nationality were randomly selected from our previous samples. Genotyping of the <it>ABCG8</it> rs4148217 SNP was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing.</p> <p>Results</p> <p>The genotypic and allelic frequencies of <it>ABCG8</it> rs4148217 SNP were different between the two nationalities (<it>P</it> < 0.01 for each), the frequency of A allele was higher in Mulao than in Han. The A allele carriers in Han had lower high-density lipoprotein cholesterol (HDL-C) and apolipoprotein (Apo) A1 levels than the A allele noncarriers (<it>P</it> < 0.05 for each), whereas the A allele carriers in Mulao had lower ApoA1 levels than the A allele noncarriers (<it>P</it> < 0.05). Subgroup analyses showed that the A allele carriers in Han had lower HDL-C and higher triglyceride (TG) levels in females but not in males than the A allele noncarriers (<it>P</it> < 0.05 for each), and the A allele carriers in Mulao had lower ApoA1 levels in females but not in males than the A allele noncarriers (<it>P</it> < 0.05). The levels of TG and HDL-C in Han, and ApoA1 in Mulao were associated with genotypes in females but not in males (<it>P</it> < 0.05-0.01). Serum lipid parameters were also correlated with several environmental factors (<it>P</it> < 0.05-0.001).</p> <p>Conclusions</p> <p>The <it>ABCG8</it> rs4148217 SNP is associated with serum TG, HDL-C and ApoA1 levels in our study populations, but this association is different between the Mulao and Han populations. There is a sex (female)-specific association in both ethnic groups.</p>