title: Association between the DOCK7, PCSK9 and GALNT2 Gene Polymorphisms and Serum Lipid levels.
abstract: This study was to determine the association between several single nucleotide polymorphisms (SNPs) in the dedicator of cytokinesis 7 (DOCK7), proprotein convertase subtilisin/kexin type 9 (PCSK9) and polypeptide N-acetylgalactosaminyltransferase 2 (GALNT2) and serum lipid levels. Genotyping of 9 SNPs was performed in 881 Jing subjects and 988 Han participants. Allele and genotype frequencies of the detected SNPs were different between the two populations. Several SNPs were associated with triglyceride (TG, rs10889332, rs615563, rs7552841, rs1997947, rs2760537, rs4846913 and rs11122316), high-density lipoprotein (HDL) cholesterol (rs1997947), low-density lipoprotein (LDL) cholesterol (rs1168013 and rs7552841), apolipoprotein (Apo) A1 (rs1997947), ApoB (rs10889332 and rs7552841), and ApoA1/ApoB ratio (rs7552841) in Jing minority; and with TG (rs10889332, rs615563, rs7552841, rs11206517, rs1997947, rs4846913 and rs11122316), HDL cholesterol (rs11206517 and rs4846913), LDL cholesterol (rs1168013), ApoA1 (rs11206517 and rs4846913), ApoB (rs7552841), and ApoA1/ApoB ratio (rs4846913) in Han nationality. Strong linkage disequilibria were noted among the SNPs. The commonest haplotype was G-C-G-C-T-G-C-C-G (>10%). The frequencies of C-C-G-C-T-G-T-C-G, G-C-A-C-T-G-C-C-G, G-C-G-C-T-A-C-C-A, G-C-G-C-T-G-C-C-A, G-C-G-C-T-G-T-C-A haplotypes were different between the two populations. Haplotypes could explain much more serum lipid variation than any single SNP alone especially for TG. Differences in lipid profiles between the two populations might partially attribute to these SNPs and their haplotypes.
authors.affiliation: Department of Cardiology, Institute of Cardiovascular Diseases, the First Affiliated Hospital, Nanning 530021, Guangxi, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Guo
authors.affiliation: Department of Cardiology, Institute of Cardiovascular Diseases, the First Affiliated Hospital, Nanning 530021, Guangxi, China.
authors.forename: Rui-Xing
authors.initials: RX
authors.lastname: Yin
authors.affiliation: Department of Cardiology, Institute of Cardiovascular Diseases, the First Affiliated Hospital, Nanning 530021, Guangxi, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Huang
authors.affiliation: Department of Cardiology, Institute of Cardiovascular Diseases, the First Affiliated Hospital, Nanning 530021, Guangxi, China.
authors.forename: Li-Mei
authors.initials: LM
authors.lastname: Yao
authors.affiliation: Department of Molecular Genetics, Medical Scientific Research Center, Nanning 530021, Guangxi, China.
authors.forename: Wei-Xiong
authors.initials: WX
authors.lastname: Lin
authors.affiliation: Department of Pathophysiology, School of Premedical Sciences, Guangxi Medical University, Nanning 530021, Guangxi, China.
authors.forename: Shang-Ling
authors.initials: SL
authors.lastname: Pan
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D002318:Cardiovascular Diseases / Q000097:blood / Q000208:ethnology / Q000209:etiology / Q000235:genetics*; D002681:China; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D050171:Dyslipidemias / Q000097:blood / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D005006:Ethnicity; D005260:Female; D020690:GTPase-Activating Proteins / Q000097:blood / Q000235:genetics*; D005786:Gene Expression Regulation; D005787:Gene Frequency; D055106:Genome-Wide Association Study; D020662:Guanine Nucleotide Exchange Factors; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D050356:Lipid Metabolism / Q000235:genetics; D008297:Male; D008875:Middle Aged; D017350:N-Acetylgalactosaminyltransferases / Q000097:blood / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D000071449:Proprotein Convertase 9 / Q000097:blood / Q000235:genetics*; D012307:Risk Factors; D014280:Triglycerides / Q000097:blood; D000097763:Polypeptide N-acetylgalactosaminyltransferase
chemical_list: D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D020690:GTPase-Activating Proteins; D020662:Guanine Nucleotide Exchange Factors; D017350:N-Acetylgalactosaminyltransferases; D000071449:Proprotein Convertase 9; D014280:Triglycerides; D000097763:Polypeptide N-acetylgalactosaminyltransferase; C514577:DOCK7 protein, human; C472125:PCSK9 protein, human