肌钙蛋白T基因单核苷酸多态性与运动性横纹肌溶解症的关联研究  

Association of troponin T gene single nucleotide polymorphism and exertional rhabdomyolysis

作　　者：白春宏[1] 薄海[2] 秦永生[2] 彭朋[2] 

机构地区：[1]武警后勤学院附属医院骨科中心脊柱一科,天津300162 [2]武警后勤学院军事训练医学教研室,天津300309

出　　处：《中国病理生理杂志》2014年第1期165-169,共5页Chinese Journal of Pathophysiology

基　　金：武警后勤学院博士启动基金资助项目(No.WYB201106);武警后勤科研项目(No.WJHQ2012-21);武警后勤学院科研创新团队项目(No.WHTD201308);武警部队后勤部卫生部科研项目(No.WJHQWSB2013-5)

摘　　要：目的:分析慢肌型肌钙蛋白T(sTnT)基因第7内含子C7761T位点与快肌型肌钙蛋白T(fTnT)基因第8内含子T7955C位点单核苷酸多态性与大强度训练后血清肌酸激酶(CK)活性之间的关系,探索运动性横纹肌溶解症(ERM)的可能遗传机制。方法:85名武警战士进行一次大强度负重训练造成亚临床ERM,检测血清CK活性的时程变化;PCR-RFLP法测定sTnT(C7761T)和fTnT(T7955C)基因多态性;分析基因多态性与安静CK(CK rest)、峰值CK(CK peak)以及CK最大变化值(ΔCK max)之间的关系。结果:sTnT和fTnT基因型分布频率均符合哈-温平衡定律。sTnT基因:C/T和C/C基因型组CK rest均高于T/T基因型组(均P<0.01),CK peak和ΔCK max在各组间无显著差异(均P>0.05),(T/T+C/T)组CK rest低于CC基因型组(P<0.05)。fTnT基因:T/C基因型组和C/C基因型组CK rest均低于T/T基因型组(分别为P<0.05和P<0.01),C/C基因型组CK peak和ΔCK max均低于T/T基因型组和T/C基因型组(均P<0.01),(T/T+T/C)组CK peak和ΔCK max均高于C/C基因型组(均P<0.01)。结论:fTnT基因第8内含子T7955C位点单核苷酸多态性可作为ERM易感性的分子遗传学标记,T等位基因携带者是患ERM的高危人群。AIM： To analyze the relationship between single nucleotide polymorphisms of C7761T locus in the 7th intron of slow muscle troponin T （sTnT） gene and T7955C locus in the 8th intron of fast muscle troponin T （ffnT） gene and serum creatine kinase （CK） activity after high-intensity exercise training for exploring the possible genetic mecha- nism of exertional rhabdomyolysis （ERM）. METHODS ： In order to induce subclinical ERM, 85 soldiers of Chinese Armed Police Force were selected to conduct a high-intensity weight-loading exercise training, and the time course of serum CK activity was measured. The polymorphisms of sTnT （C7761T） and fl＇nT （T7955C） genes were detected by PCR- RFLP. The association between resting CK （ CK^s, ）, peak CK （ CK^ak ） , maximal change of CK （ ACKm~ ） and genetic polymorphisms was determined. RESULTS： The frequencies of sTnT and fl＇nT genotype distribution were coincident with Hardy-Weinberg equilibrium. As for sTnT gene, CK,~ in C/T and C/C genotype groups was higher than that in T/T group （ both P 〈 0.01 ）. No significant difference of CK^k and ACKm= between each group was observed. CK^B, in （ T/T ＋ C/T） group was lower than that in CC group （ P 〈 0.05 ）. With regard tofl＇nT, CKr^st in T/C and C/C genotype groups was lower than that in T/T group （P 〈0.05 and P 〈0.01, respectively）. CKpeak and ACKm= in C/C group were lower than those in T/T and T/C group （ all P 〈 0.01 ）. CKpe^k and ACK,~= in （ T/T ＋ T/C） group were higher than those in C/C group （ both P 〈0.01 ）. CONCLUSION： Single nucleotide polymorphism of T7955C in the 8th intron offTnT gene can be used as a molecular genetic marker for susceptivity of ERM. The carriers with T allele are a high-risk population of ERM.

关 键 词：运动性横纹肌溶解症 肌酸激酶 肌钙蛋白T 基因多态性 基因型 

分 类 号：R363[医药卫生—病理学]