Key result
Four SNPs in the MVK and MMAB genes were significantly associated with HDL-C levels in both Maonan and Han populations (P<0.0125-0.001), with haplotypes explaining more lipid variation than single SNPs.
Observational (n=2,515)
MVK and MMAB polymorphisms and their haplotypes are significantly associated with serum lipid levels, particularly HDL-C, and may partially explain lipid profile differences between Maonan and Han populations in China.
These genetic associations remain hypothesis-generating for population-specific lipid risk profiling; leaves open whether targeting these.
// Liu Miao 1 , Rui-Xing Yin 1 , Shang-Ling Pan 2 , Shuo Yang 1 , De-Zhai Yang 3 and Wei-Xiong Lin 3 1 Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University, Nanning 530021, Guangxi, People’s Republic of China 2 Department of Pathophysiology, School of Premedical Science, Guangxi Medical University, Nanning 530021, Guangxi, People’s Republic of China 3 Department of Molecular Genetics, Medical Scientific Research Center, Guangxi Medical University, Nanning 530021, Guangxi, People’s Republic of China Correspondence to: Rui-Xing Yin, email: yinruixing@163.com 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; r 2 =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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Miao et al. (2017) conducted an observational in Dyslipidemia (n=2,515). MVK and MMAB single nucleotide polymorphisms (rs3759387, rs877710, rs7134594, rs9593) vs. Alternative alleles/genotypes was evaluated on High-density lipoprotein cholesterol (HDL-C) levels (p=<0.0125-0.001). Four SNPs in the MVK and MMAB genes were significantly associated with HDL-C levels in both Maonan and Han populations (P<0.0125-0.001), with haplotypes explaining more lipid variation than single SNPs.
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