Oncotarget

Research Papers:

Association between the MVK and MMAB polymorphisms and serum lipid levels

Liu Miao, Rui-Xing Yin _, Shang-Ling Pan, Shuo Yang, De-Zhai Yang and Wei-Xiong Lin

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Oncotarget. 2017; 8:70378-70393. https://doi.org/10.18632/oncotarget.19707

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Abstract

Liu Miao1, Rui-Xing Yin1, Shang-Ling Pan2, Shuo Yang1, De-Zhai Yang3 and Wei-Xiong Lin3

1Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University, Nanning 530021, Guangxi, People’s Republic of China

2Department of Pathophysiology, School of Premedical Science, Guangxi Medical University, Nanning 530021, Guangxi, People’s Republic of China

3Department of Molecular Genetics, Medical Scientific Research Center, Guangxi Medical University, Nanning 530021, Guangxi, People’s Republic of China

Correspondence to:

Rui-Xing Yin, email: [email protected]

Keywords: mevalonate kinase and methylmalonic aciduria (cobalamin deficiency) cblB type gene, single nucleotide polymorphism, haplotype, lipids, environmental factor

Received: April 25, 2017     Accepted: June 19, 2017     Published: July 31, 2017

ABSTRACT

Maonan ethnic group is a relatively conservative and isolated minority in China. Little is known about the association of the mevalonate kinase (MVK), methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB) single nucleotide polymorphisms (SNPs) and serum lipid levels. This study aimed to determine the association between four SNPs in the MVK/MMAB and serum lipid levels. Genotyping of the rs3759387, rs877710, rs7134594 and rs9593 SNPs was performed in 1264 Maonan subjects and 1251 Han participants. Allele and genotype frequencies of the selected SNPs were different between the two populations (P < 0.05-0.001). Four SNPs were associated with high-density lipoprotein cholesterol (HDL-C) in the both ethnic groups (P < 0.0125-0.001); and one SNP with apolipoprotein (Apo) A1 (rs7134594) in Han Chinese (P <0.0125). Strong linkage disequilibria were noted among the SNPs (D'=0.63-0.96; r2=0.13-0.88). The commonest haplotype was C-C-C-T (> 50%). The frequencies of C-C-C-T, C-G-T-A, A-G-T-A, C-G-C-T, and A-C-T-A were different between the two populations (P <0.001). The associations between haplotypes and dyslipidemia were different in the Han and/or Maonan population (P < 0.05-0.001), haplotypes could explain much more serum lipid variation than any single SNP alone especially for HDL-C. Differences in lipid profiles between the two populations might partially attribute to these SNPs and their haplotypes.


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