Open AccessAssociation of the variants and haplotypes in the DOCK 7, PCSK 9 and GALNT 2 genes and the risk of hyperlipidaemia
Author(s) -
Guo Tao,
Yin RuiXing,
Lin WeiXiong,
Wang Wei,
Huang Feng,
Pan ShangLing
Publication year - 2016
Publication title -
journal of cellular and molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.44
H-Index - 130
eISSN - 1582-4934
pISSN - 1582-1838
DOI - 10.1111/jcmm.12713
Subject(s) - haplotype , biology , single nucleotide polymorphism , genetics , snp , microbiology and biotechnology , gene , genotype
Little is known about the association between the single nucleotide polymorphisms ( SNP s) and haplotypes of the dedicator of cytokinesis 7 ( DOCK 7 ), pro‐protein convertase subtilisin/kexin type 9 ( PCSK 9 ) and polypeptide N‐acetylgalactosaminyltransferase 2 ( GALNT 2 ) and serum lipid traits in the Chinese populations. This study was to determine the association between nine SNP s in the three genes and their haplotypes and hypercholesterolaemia ( HCH )/hypertriglyceridaemia ( HTG ), and to identify the possible gene–gene interactions among these SNP s. 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 DOCK 7 rs1168013 (G>C), rs10889332 (C>T); PCSK 9 rs615563 (G>A), rs7552841 (C>T), rs11206517 (T>G); and GALNT 2 rs1997947 (G>A), rs2760537 (C>T), rs4846913 (C>A) and rs11122316 (G>A) SNP s] 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 DOCK 7 , PCSK 9 and GALNT 2 SNP s were also noted. However, further functional studies of these genes are still required to clarify which SNP s are functional and how these genes actually affect the serum lipid levels.