中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2013年
5期
601-607
,共7页
许鑫%王力涵%刘海波%徐长福%张鹏%雍粉娣%施育平
許鑫%王力涵%劉海波%徐長福%張鵬%雍粉娣%施育平
허흠%왕력함%류해파%서장복%장붕%옹분제%시육평
趋化因子基因%趋化因子受体基因%遗传多态性%心肌梗死
趨化因子基因%趨化因子受體基因%遺傳多態性%心肌梗死
추화인자기인%추화인자수체기인%유전다태성%심기경사
Chemokines genes%Chemokine receptors gene%Genetic polymorphism%Myocardial infarction
目的 初步探讨趋化因子(chemokines,CCL5,CCL2)和相应受体(chemokine receptor,CCR5,CCR2)的基因多态性与中国汉族人群心肌梗死(myocardial infarction,MI)的相关性.方法 采用病例对照研究,选取心肌梗死或陈旧性心肌梗死患者634例(MI组)和正常对照601名.采用聚合酶链反应-限制性片段长度多态性方法检测受试者CCL5 rs2107538(-403G/A)、CCL2 rs1024611(-2518A/G)、CCR5 rs333(△32ins/del)和CCR2 rs1799864(190G/A)的基因型,并用DNA测序法鉴定部分结果.结果 所有受试者中均未发现CCR5 △32突变基因型.CCL2 rs1024611和CCR2 rs1799864基因型和等位基因频率在MI组与对照组的分布差异无统计学意义.CCL5 rs2107538基因多态性与MI发生相关,MI组AA基因型频率明显高于对照组(12.1％ vs.5.0％,P＜0.01),经校正后可显著增加MI的风险(校正后OR=3.346,95％CI=1.938～5.775,P＜0.01),A等位基因频率明显高于对照组(26.6％ vs.21.8％,P=0.006).CCL5 rs2107538(-403G/A)和CCL2 rs1024611(-2518A/G)处于强连锁不平衡状态,MI组A-403-A-2518单体型频率和AA/AA结合基因型频率明显高于对照组,可独立增加MI的风险(A-403-A-2518单体型:校正后OR=1.229,95％CI=1.012-1.493,P=0.038；AA/AA结合基因型:校正后OR=3.245,95％CI=1.780～5.914,P＜0.01).结论 CCL5 rs2107538基因多态性与MI的发生相关,其中AA基因型可能是MI发病的独立危险因子,A等位基因可能是MI的易感基因.
目的 初步探討趨化因子(chemokines,CCL5,CCL2)和相應受體(chemokine receptor,CCR5,CCR2)的基因多態性與中國漢族人群心肌梗死(myocardial infarction,MI)的相關性.方法 採用病例對照研究,選取心肌梗死或陳舊性心肌梗死患者634例(MI組)和正常對照601名.採用聚閤酶鏈反應-限製性片段長度多態性方法檢測受試者CCL5 rs2107538(-403G/A)、CCL2 rs1024611(-2518A/G)、CCR5 rs333(△32ins/del)和CCR2 rs1799864(190G/A)的基因型,併用DNA測序法鑒定部分結果.結果 所有受試者中均未髮現CCR5 △32突變基因型.CCL2 rs1024611和CCR2 rs1799864基因型和等位基因頻率在MI組與對照組的分佈差異無統計學意義.CCL5 rs2107538基因多態性與MI髮生相關,MI組AA基因型頻率明顯高于對照組(12.1％ vs.5.0％,P＜0.01),經校正後可顯著增加MI的風險(校正後OR=3.346,95％CI=1.938～5.775,P＜0.01),A等位基因頻率明顯高于對照組(26.6％ vs.21.8％,P=0.006).CCL5 rs2107538(-403G/A)和CCL2 rs1024611(-2518A/G)處于彊連鎖不平衡狀態,MI組A-403-A-2518單體型頻率和AA/AA結閤基因型頻率明顯高于對照組,可獨立增加MI的風險(A-403-A-2518單體型:校正後OR=1.229,95％CI=1.012-1.493,P=0.038；AA/AA結閤基因型:校正後OR=3.245,95％CI=1.780～5.914,P＜0.01).結論 CCL5 rs2107538基因多態性與MI的髮生相關,其中AA基因型可能是MI髮病的獨立危險因子,A等位基因可能是MI的易感基因.
목적 초보탐토추화인자(chemokines,CCL5,CCL2)화상응수체(chemokine receptor,CCR5,CCR2)적기인다태성여중국한족인군심기경사(myocardial infarction,MI)적상관성.방법 채용병례대조연구,선취심기경사혹진구성심기경사환자634례(MI조)화정상대조601명.채용취합매련반응-한제성편단장도다태성방법검측수시자CCL5 rs2107538(-403G/A)、CCL2 rs1024611(-2518A/G)、CCR5 rs333(△32ins/del)화CCR2 rs1799864(190G/A)적기인형,병용DNA측서법감정부분결과.결과 소유수시자중균미발현CCR5 △32돌변기인형.CCL2 rs1024611화CCR2 rs1799864기인형화등위기인빈솔재MI조여대조조적분포차이무통계학의의.CCL5 rs2107538기인다태성여MI발생상관,MI조AA기인형빈솔명현고우대조조(12.1％ vs.5.0％,P＜0.01),경교정후가현저증가MI적풍험(교정후OR=3.346,95％CI=1.938～5.775,P＜0.01),A등위기인빈솔명현고우대조조(26.6％ vs.21.8％,P=0.006).CCL5 rs2107538(-403G/A)화CCL2 rs1024611(-2518A/G)처우강련쇄불평형상태,MI조A-403-A-2518단체형빈솔화AA/AA결합기인형빈솔명현고우대조조,가독립증가MI적풍험(A-403-A-2518단체형:교정후OR=1.229,95％CI=1.012-1.493,P=0.038；AA/AA결합기인형:교정후OR=3.245,95％CI=1.780～5.914,P＜0.01).결론 CCL5 rs2107538기인다태성여MI적발생상관,기중AA기인형가능시MI발병적독립위험인자,A등위기인가능시MI적역감기인.
Objective To assess the association of variations in chemokines (CCL5,CCL2),chemokine receptor (CCR5 and CCR2) genes with susceptibility to myocardial infarction(MI) through a casecontrol study.Methods Genotypes of patients with MI(n=634) were compared with those of controls(n=601).Genetic polymorphisms of CCL5 rs2107538 (-403G/A),CCL2 rs1024611 (-2518A/G),CCR5 rs333(△32 ins/del) and CCR2 rs1799864(190G/A) of 1235 individuals were determined with polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).Particular genotypes were confirmed with DNA sequencing.Results No subject was found to carry the CCR5-△32 allele.No association was found between CCL2 rs1024611 and CCR2 rs1799864 polymorphisms and MI.For CCL5 rs2107538 polymorphism,A allele has occurred at a higher frequency in MI patients than controls,and its AA genotype has been associated with a significantly increased risk of MI independent of conventional risk factors(OR=3.346,95％CI=1.938-5.775,P＜0.01,AA vs.GG).Further analysis indicated that MI patients had significantly more A-403-A-2518 haplotype (CCL5-403G/A/CCL2-2518A/G,21.8％ vs.26.6％,OR=1.229,95％CI=1.012-1.493,P=0.038) and AA/AA genotype (CCL5-403G/A/CCL2 -2518A/G,5.0％ vs.12.1％,OR=3.245,95％CI=1.780～5.914,P＜0.01).Conclusion Although our data does not support an association between CCL2 rs1024611,CCR2 rs1799864 and CCR5 rs333 polymorphisms and MI,genetic variation in CCL5 gene may still be a useful marker for assessing susceptibility to MI in ethnic Han Chinese population.
