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谷氨酰-半胱氨酸连接酶催化亚基C-129T和修饰亚基G-23T多态性与冠心病的关系

The glutamate-cysteine ligase catalytic subunit gene C-129T and modifier subunit gene G-23T polymorphisms and risk for coronary diseases
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摘要 目的探讨谷氨酰-半胱氨酸连接酶催化亚基(GCLC)C-129T 多态性和修饰亚基(GCLM)G-23T 多态性与冠心病遗传易感性的关系。方法采用聚合酶链反应-限制性片段长度多态方法,检测212例冠心病与218例对照的 GCLC C-129T 和 GCLM G-23T 基因型分布及差异。结果冠心病组中 GCLC-129T 等位基因频率显著高于对照组(P<0.01),GCLC-129T 的冠心病发病风险是-129C 的2.38倍(95% CI:1.25~4.54)。与 GCLC-129CC 基因型相比,GCLC-129CT 基因型的冠心病发病风险显著增加至2.14倍(95% CI:1.08~4.24,P<0.05),GCLC-129T 等位基因携带者(CT、TT 基因型)患冠心病的风险显著增加至2.28倍(95% CI:1.16~4.49,P<0.05)。冠心病组中GCLM-23T 等位基因频率显著低于对照组(P<0.01),GCLM-23T 的冠心病发病风险是-23G 的0.59倍(95% CI:0.42~0.82)。与 GCLM-23GG 基因型相比,GT、TT 基因型和-23T 等位基因携带者(GT、TT 基因型)的冠心病发病风险分别为0.71倍(95% CI:0.47~1.08,P>0.05)、0.18倍(95%CI:0.06~0.55,P<0.01)和0.61倍(95% CI:0.42~0.92,P<0.05)。结论 GCLC C-129T 多态性可能是冠心病的一个遗传易感因素,而 GCLM G-23T 多态性可能是冠心病的一个遗传保护因素。 Objective To investigate the possible association between the glutamate-eysteine ligase catalytic subunit gene (GCLC) C-129T and modifier subunit gene (GCLM) G-23T polymorphisms with coronary heart disease (CHD) in Chinese population. Methods GCLC C-129T and GCLM G-23T genotypes were determined in 212 CHD patients and 218 healthy individuals using a PCR-based restriction fragment length polymorphism (RFLP) method. Odds ratio (OR) for CHD and 95% confidence interval (CI) from unconditional logistic regression models were used to evaluate relative risks. Results The T allele of the GCLC C-129T polymorphism was more frequently found in CHD cases than in controls ( P 〈 0. 01 ) and individuals with GCLC -129T allele had a significantly higher risk for CHD (OR =2. 38, 95% CI: 1.25 - 4.54) as compared to individuals with the -129C allele. When compared with CC homozygote, CT heterozygote had a 2. 14-fold higher risk for CHD (95% CI: 1.08 -4. 24, P 〈0. 05) and carriers of the -129T allele (CT or TT genotype) also had a similarly 2. 28-fold higher risk for CHD (95% CI: 1.16 - 4.49, P 〈 0. 05 ). In contrast, the frequency of T allele of the GCLM G-23T polymorphism was lower in CHD patients than that of controls (0. 174 vs. 0. 264 ) and individuals with the GCLM -23T allele had a significantly lower risk for CHD ( OR = 0. 59, 95% CI: 0. 42 - 0. 82, P 〈 0. 01 ) as compared to the -23G allele. When compared with GG homozygote, the OR of CHD for GT heterozygote was 0. 71 (95% CI: 0. 47 - 1.08, P 〉 0. 05 ), for TT homozygote was 0. 18 ( 95% CI:0. 06 - 0. 55, P 〈 0. 01 ), and for carriers of the -23T allele (GT or TT genotype) was 0.61 (95% CI: 0.42 -0.92, P 〈0.05). Conclusion The GCLC C-129T polymorphism may be one of the genetic risk factor while the GCLM G-23T polymorphism may be one of the genetic protective factors for CHD in this Chinese population.
出处 《中华心血管病杂志》 CAS CSCD 北大核心 2007年第7期637-640,共4页 Chinese Journal of Cardiology
关键词 冠状动脉疾病 谷氨酰-半胱氨酸连接酶 多态性 单核苷酸 疾病遗传易感性 Coronary diseases Glutamate-cysteine ligase Polymorphism, single nucleotide Genetic predisposition to disease
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