Background: A previous genome-wide association study has displayed the association of the ST3 beta-galactoside alpha-2,3-sialytransferase 4 (ST3GAL4) gene variant and lipid traits in the individuals of European ancestry, but the reproducibility of this association has not been detected in the Chinese population. The present study was undertaken to detect the association of ST3GAL4 rs11220462 single nucleotide polymorphism (SNP) and several environmental factors with serum lipid profiles in the Mulao and Han populations.
Methods: A total of 700 unrelated individuals of Mulao nationality and 694 subjects of Han nationality were randomly selected from our previous stratified randomized samples. Genotypes of the SNP were determined via polymerase chain reaction and restriction fragment length polymorphism in combination with gel electrophoresis, and then verified by direct sequencing.
Results: Serum apolipoprotein (Apo) B levels were higher and the ApoAI/ApoB ratio was lower in Mulao than in Han (P<0.05-0.01). There were no significant differences in the genotypic and allelic frequencies of the ST3GAL4 rs11220462 SNP between the two ethnic groups or between males and females. The A allele carriers in both Mulao males and females had higher total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and ApoB levels than the A allele non-carriers (P<0.05-0.01). The subjects with AA genotype in Han males but not in females had higher TC and triglyceride (TG) levels than the subjects with AG or GG genotype (P<0.01 for each). Multiple linear regression analyses showed that the levels of TC, LDL-C and ApoB in Mulao females; TC and LDL-C in Mulao males; and TC in Han males were correlated with the genotypes (P<0.05-0.001). Serum lipid parameters were also associated with several environmental factors in both ethnic groups (P<0.05 -0.001).
Conclusions: The association of ST3GAL4 rs11220462 SNP and serum lipid levels was different between the Mulao and Han populations, suggesting that there may be a racial/ethnic-specific association, and/or sex-specific association between the ST3GAL4 rs11220462 SNP and serum lipid parameters in some ethnic groups.