Association of the variants and haplotypes in the DOCK7, PCSK9 and GALNT2 genes and the risk of hyperlipidaemia.
Little is known about the association between the single nucleotide polymorphisms (SNPs) and haplotypes of the dedicator of cytokinesis 7 (DOCK7), pro-protein convertase subtilisin/kexin type 9 (PCSK9) and polypeptide N-acetylgalactosaminyltransferase 2 (GALNT2) and serum lipid traits in the Chinese populations. This study was to determine the association between nine SNPs in the three genes and their haplotypes and hypercholesterolaemia (HCH)/hypertriglyceridaemia (HTG), and to identify the possible gene-gene interactions among these SNPs. Genotyping was performed in 733 HCH and 540 HTG participants. The haplotype of C-C-G-C-T-G-C-C-G [in the order of DOCK7 rs1168013 (G>C), rs10889332 (C>T); PCSK9 rs615563 (G>A), rs7552841 (C>T), rs11206517 (T>G); and GALNT2 rs1997947 (G>A), rs2760537 (C>T), rs4846913 (C>A) and rs11122316 (G>A) SNPs] was associated with increased risk of HCH and HTG. The haplotypes of C-C-G-C-T-G-C-C-A and G-C-G-T-T-G-T-C-G were associated with a reduced risk of HCH and HTG. The haplotypes of G-C-G-C-T-G-C-C-A and G-C-G-C-T-G-T-C-G were associated with increased risk of HCH. The haplotypes of C-T-G-C-T-G-C-C-G, G-C-A-C-T-G-C-C-G and G-C-G-C-T-G-C-C-A were associated with an increased risk of HTG. The haplotypes of G-C-G-C-T-G-T-C-A and G-C-G-T-T-G-T-C-G were associated with a reduced risk of HTG. In addition, possible inter-locus interactions among the DOCK7, PCSK9 and GALNT2 SNPs were also noted. However, further functional studies of these genes are still required to clarify which SNPs are functional and how these genes actually affect the serum lipid levels.
Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University, Nanning, Guangxi, China.
Tao
T
Guo
Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University, Nanning, Guangxi, China.
Rui-Xing
RX
Yin
Department of Molecular Genetics, Medical Scientific Research Center, Guangxi Medical University, Nanning, Guangxi, China.
Wei-Xiong
WX
Lin
Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University, Nanning, Guangxi, China.
Wei
W
Wang
Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University, Nanning, Guangxi, China.
Feng
F
Huang
Department of Pathophysiology, School of Premedical Sciences, Guangxi Medical University, Nanning, Guangxi, China.
Shang-Ling
SL
Pan
D005260:Female; D020690:GTPase-Activating Proteins / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D020662:Guanine Nucleotide Exchange Factors; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D006949:Hyperlipidemias / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D000071449:Proprotein Convertase 9 / Q000235:genetics*; D012306:Risk; D000097763:Polypeptide N-acetylgalactosaminyltransferase
D020690:GTPase-Activating Proteins; D020662:Guanine Nucleotide Exchange Factors; D017350:N-Acetylgalactosaminyltransferases; D000071449:Proprotein Convertase 9; D000097763:Polypeptide N-acetylgalactosaminyltransferase; C514577:DOCK7 protein, human; C472125:PCSK9 protein, human
dedicator of cytokinesis 7; hyperlipidaemia; polypeptide N-acetylgalactosaminyltransferase 2; pro-protein convertase subtilisin/kexin type 9; single nucleotide polymorphisms