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Background  Several genome-wide association studies have discovered novel loci at chromosome 12q24, which includes mevalonate kinase ( MVK ), methylmalonic aciduria (cobalamin deficiency) cbIB type ( MMAB ), and potassium channel tetramerization domain-containing 10 ( KCTD10 ), all of which influence HDL-cholesterol concentrations. However, there are few reports on the associations between these polymorphisms and HDL-C concentrations in Chinese population. This study aimed to evaluate the associations between functional polymorphisms in three genes ( MVK ,  MMAB  and  KCTD10 ) and HDL-C concentrations, as well as coronary heart disease (CHD) susceptibility in Chinese individuals.    Methods  We systematically selected and genotyped 18 potentially functional polymorphisms in  MVK ,  MMAB  and  KCTD10  by using the TaqMan OpenArray Genotyping System in a Chinese population including 399 dyslipidemia cases, 697 CHD cases and 465 controls. Multivariate logistic regression analyses were performed to estimate the relationship between the genotypes and dyslipidemia, CHD risk with adjustment of relevant confounders.    Results  Among six polymorphisms showing significant associations with dyslipidemia, the minor alleles of rs11066782 in  KCTD10 , rs11613718 in  KCTD10  and rs11067233 in  MMAB  were significantly associated with a decreased risk of CHD (additive model: OR = 0.71, 95 % CI = 0.53–0.97,  P  = 0.029 for rs11066782; OR = 0.73, 95 % CI = 0.54–0.99,  P  = 0.044 for rs11613718 and OR = 0.57, 95 % CI = 0.40–0.80,  P  = 0.001 for rs11067233). Further combined analysis showed that individuals carrying “3-4” favorable alleles presented a 62 % (OR = 0.38, 95 % CI = 0.21–0.66) decreased risk of CHD compared with those carrying “0–2” favorable alleles.    Conclusions  These findings suggest that rs11066782 in  KCTD10 , rs11613718 in  KCTD10  and rs11067233 in  MMAB  may contribute to the susceptibility of CHD by altering plasma HDL-C levels in Han Chinese.    Electronic supplementary material  The online version of this article (doi:10.1186/s12944-016-0348-7) contains supplementary material, which is available to authorized users.

Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population