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A study of the association of rs12040273 with susceptibility and severity of coronary artery disease in a Chinese Han population.

A study of the association of rs12040273 with susceptibility and severity of coronary artery disease in a Chinese Han population.
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Yang B, Yan S, Yan J, Li Y, Khurwolah MR, Wang L, Chen Z,


Yang B, Yan S, Yan J, Li Y, Khurwolah MR, Wang L, Chen Z, (click to view)

Yang B, Yan S, Yan J, Li Y, Khurwolah MR, Wang L, Chen Z,

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BMC cardiovascular disorders 2018 01 1918(1) 10 doi 10.1186/s12872-018-0743-2
Abstract
BACKGROUND
The single nucleotide polymorphism (SNP) rs12040273, a variant of UDP-N-acetylgalactosamine, polypeptide GalNAc-transferase 2, has recently been reported to be significantly associated with development of carotid artery intima-media thickness (IMT) in a Chinese population based on a genome-wide association study. Because IMT is a potent marker of coronary artery disease (CAD), the aim of this study was to evaluate the relation of rs12040273 to susceptibility and severity of CAD in a Chinese Han population.

METHODS
We performed a hospital-based case-control study. Three hundred and thirty-one individuals (199 CAD patients and 112 non-CAD controls) undergoing coronary angiography were consecutively enrolled in the study. The Gensini score results were used to assess the severity of CAD. The method of polymerase chain reaction-ligase detection reaction (PCR-LDR) was used to distinguish different genotypes at rs12040273.

RESULTS
The distribution of genotypes at rs12040273 was comparable between CAD patients and non-CAD controls (P > 0.05). The frequencies of the genotypes were also not significantly associated with the risk of CAD and its severity assessed by the Gensini score method, with the OR of 1.38 (95% CI = 0.80-2.40, P = 0.24) and 1.14 (95% CI = 0.69-1.86, P = 0.60) respectively. However, stratified analysis showed that the serum HDL-C levels of subjects with the CC genotype were significantly higher than those with CT/TT genotypes in non-CAD controls (P = 0.002).

CONCLUSION
Our results suggest that the rs12040273 variants might not be associated with the susceptibility of CAD or its severity in a Chinese Han population. Moreover, the CC genotype could be associated with elevated serum HDL-C levels.

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