Little is known about the association of peptidase D (PEPD) gene rs731839 single nucleotide polymorphism (SNP) and serum lipid profiles in the Chinese population. The objective of the present study was to detect the association of the PEPD rs731839 SNP and serum lipid levels in the Mulao and Han populations. Genotyping of the PEPD rs731839 SNP was performed in 751 subjects of Mulao and 762 subjects of Han using polymerase chain reaction and restriction fragment length polymorphism and then confirmed by direct sequencing. The A allele carriers had higher serum high-density lipoprotein cholesterol (HDL-C), apolipoprotein (Apo) AI levels and lower triglyceride (TG) levels in Mulao; and higher HDL-C, low-density lipoprotein cholesterol (LDL-C) and ApoAI levels in Han than the A allele non-carriers. Subgroup analyses showed that the A allele carriers had higher HDL-C, ApoAI levels and lower TG levels in Mulao males but not in females; higher total cholesterol (TC), HDL-C, LDL-C and ApoAI levels in Han males; and higher TG, HDL-C and ApoAI levels in Han females than the A allele non-carriers. Serum lipid parameters were also correlated with several environmental factors in Mulao and Han populations, or in males and females in both ethnic groups. The association of the PEPD rs731839 SNP and serum lipid levels was different between the Mulao and Han populations, and between males and females in the both ethnic groups. There may be an ethnic- and/or sex-specific association of the PEPD rs731839 SNP and serum lipid levels in our study populations.
Keywords: Lipids; environmental factors; peptidase D (PEPD) gene; sex-specific association; single nucleotide polymorphism.