Association of the PCSK7 rs2277287 polymorphismand serum lipid levels in the Jing and Han populations

作者：Zhang, Qing-Hui; Yin, Rui-Xing^*; Gao, Hui; Bin, Yuan; Pan, Ling; Li, Kai-Guang; Huang, Jian-Hua; Li, Wei-Jun

来源：International Journal of Clinical and Experimental Medicine, 2017, 10(3): 4986-5000.

• Proprotein convertase subtilisin/kexin type 7
• single nucleotide polymorphism
• lipids
• environmental factor

The single nucleotide polymorphism (SNP) of rs142953140 near the proprotein convertase subtilisin/kexin type 7 gene (PCSK7) has been associated with serum low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglyceride levels in a previous genome-wide association study, but the association of PCSK7 rs2277287 SNP and serum lipid levels has not been reported previously. The aim of this study was to detect the association of the PCSK7 rs2277287 SNP and several environmental factors with serum lipid profiles in the Chinese Jing and Han populations. Genotypes of the PCSK7 rs2277287 SNP in 657 individuals of Jing nationality and 657 participants of Han nationality were determined by polymerase chain reaction and restriction fragment length polymorphism, and then confirmed by direct sequencing. The frequencies of CC, CT and TT genotypes were 80.21%, 17.96% and 1.83% in the Han population, and 69.41%, 27.70% and 2.89% in the Jing population (P<0.001); Respectively. The frequency of the T allele was 10.81% in the Han individuals and 16.74% in the Jing subjects (P<0.001). The T allele carriers had higher apolipoprotein (Apo) B and lower ApoA1/ApoB ratio in Han; and higher HDL-C in Jing than the T allele non-carriers. Subgroup analyses showed that the T allele carriers had lower ApoA1/ApoB ratio in Han males and females; And higher HDL-C, LDL-C and ApoB levels in Jing males (P<0.05 for all). Serum lipid parameters in the two ethnic groups were also associated with several environmental factors. These findings revealed that there may be a racial/ethnic- and/or sex-specific association between the PCSK7 rs2277287 SNP and serum lipid parameters in some populations.

• 出版日期2017
• 单位广西医科大学