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Abstract：
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.
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.
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).
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.
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.
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).
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.
摘要：
单核苷酸多态性（SNP）rs12040273，UDP-N-乙酰半乳糖胺的变体，根据全基因组关联研究，最近有报道多肽GalNAc转移酶2与中国人群颈动脉内膜中层厚度（IMT）的发展显着相关。因为IMT是冠状动脉疾病（CAD）的有效标志物，这项研究的目的是评估rs12040273与中国汉族人群CAD易感性和严重程度的关系。
我们进行了一项基于医院的病例对照研究。该研究连续招募了进行冠状动脉造影的三百三十一名个体（199名CAD患者和112名非CAD对照）。Gensini评分结果用于评估CAD的严重程度。聚合酶链反应-连接酶检测反应（PCR-LDR）方法用于区分rs12040273的不同基因型。
CAD患者和非CAD对照rs12040273的基因型分布具有可比性（P>0.05）。基因型的频率也与CAD的风险和通过Gensini评分方法评估的严重程度没有显着相关，OR值分别为1.38(95%CI=0.80~2.40,P=0.24)和1.14(95%CI=0.69~1.86,P=0.60)。然而,分层分析显示，CC基因型受试者的血清HDL-C水平明显高于非CAD对照组的CT/TT基因型受试者（P=0.002）。
我们的结果表明，rs12040273变异可能与中国汉族人群的CAD易感性或严重程度无关。此外，CC基因型可能与血清HDL-C水平升高有关.
我们进行了一项基于医院的病例对照研究。该研究连续招募了进行冠状动脉造影的三百三十一名个体（199名CAD患者和112名非CAD对照）。Gensini评分结果用于评估CAD的严重程度。聚合酶链反应-连接酶检测反应（PCR-LDR）方法用于区分rs12040273的不同基因型。
CAD患者和非CAD对照rs12040273的基因型分布具有可比性（P>0.05）。基因型的频率也与CAD的风险和通过Gensini评分方法评估的严重程度没有显着相关，OR值分别为1.38(95%CI=0.80~2.40,P=0.24)和1.14(95%CI=0.69~1.86,P=0.60)。然而,分层分析显示，CC基因型受试者的血清HDL-C水平明显高于非CAD对照组的CT/TT基因型受试者（P=0.002）。
我们的结果表明，rs12040273变异可能与中国汉族人群的CAD易感性或严重程度无关。此外，CC基因型可能与血清HDL-C水平升高有关.
