中国医刊
中國醫刊
중국의간
Chinese Journal of Medicine
2015年
11期
32-35
,共4页
刘益明%莫绪明%黄斌%张正东%虞桂平%孙剑%吴珍%王晓航%王美林
劉益明%莫緒明%黃斌%張正東%虞桂平%孫劍%吳珍%王曉航%王美林
류익명%막서명%황빈%장정동%우계평%손검%오진%왕효항%왕미림
先天性心脏病%多态性%单核苷酸%易感性
先天性心髒病%多態性%單覈苷痠%易感性
선천성심장병%다태성%단핵감산%역감성
Congenital heart disease%Polymorphism%Single nucleotide%Susceptibility
目的 探讨pri-miR-34b/c基因单核苷酸多态性( single nucleotide polymorphism,SNP)与先天性心脏病( congenital heart disease,CHD)易感性的关系. 方法 采用病例-对照研究选择CHD患者590例和612例非CHD患者对照,利用TaqMan荧光定量PCR方法检测中国汉族人群中pri-miR-34b/c基因rs4938123多态性,并对不同基因型临床资料进行分析. 结果 pri-miR-34b/c基因多态性位点rs4938123在CHD组的基因型频率为:TT 43. 1℅(258/590)、TC 44. 9℅(265/590)、CC 11. 4℅(61/590),对照组分别为 TT 45. 5℅(306/612)、TC 44. 1℅(296/612)、CC 10. 4℅(10/612),两组基因型频率差异无显著性(以野生型TT为参照,TC:OR=1. 063,95℅ CI 0. 841~1. 343,P=0. 611;CC:OR=1. 140,95℅ CI 0. 184~1. 651,P=0. 493),暴露于C等位基因型(TC+CC:OR=1. 016,95℅ CI 0. 861~1. 344,P=0. 519). CHD组三种基因型分布在CHDⅠ类、Ⅱ类和Ⅲ类分类中差异均无显著性. 结论 未发现中国汉族人群 pri-miR-34b/c 基因多态性位点rs4938123与散发CHD易感性存在关联.
目的 探討pri-miR-34b/c基因單覈苷痠多態性( single nucleotide polymorphism,SNP)與先天性心髒病( congenital heart disease,CHD)易感性的關繫. 方法 採用病例-對照研究選擇CHD患者590例和612例非CHD患者對照,利用TaqMan熒光定量PCR方法檢測中國漢族人群中pri-miR-34b/c基因rs4938123多態性,併對不同基因型臨床資料進行分析. 結果 pri-miR-34b/c基因多態性位點rs4938123在CHD組的基因型頻率為:TT 43. 1℅(258/590)、TC 44. 9℅(265/590)、CC 11. 4℅(61/590),對照組分彆為 TT 45. 5℅(306/612)、TC 44. 1℅(296/612)、CC 10. 4℅(10/612),兩組基因型頻率差異無顯著性(以野生型TT為參照,TC:OR=1. 063,95℅ CI 0. 841~1. 343,P=0. 611;CC:OR=1. 140,95℅ CI 0. 184~1. 651,P=0. 493),暴露于C等位基因型(TC+CC:OR=1. 016,95℅ CI 0. 861~1. 344,P=0. 519). CHD組三種基因型分佈在CHDⅠ類、Ⅱ類和Ⅲ類分類中差異均無顯著性. 結論 未髮現中國漢族人群 pri-miR-34b/c 基因多態性位點rs4938123與散髮CHD易感性存在關聯.
목적 탐토pri-miR-34b/c기인단핵감산다태성( single nucleotide polymorphism,SNP)여선천성심장병( congenital heart disease,CHD)역감성적관계. 방법 채용병례-대조연구선택CHD환자590례화612례비CHD환자대조,이용TaqMan형광정량PCR방법검측중국한족인군중pri-miR-34b/c기인rs4938123다태성,병대불동기인형림상자료진행분석. 결과 pri-miR-34b/c기인다태성위점rs4938123재CHD조적기인형빈솔위:TT 43. 1℅(258/590)、TC 44. 9℅(265/590)、CC 11. 4℅(61/590),대조조분별위 TT 45. 5℅(306/612)、TC 44. 1℅(296/612)、CC 10. 4℅(10/612),량조기인형빈솔차이무현저성(이야생형TT위삼조,TC:OR=1. 063,95℅ CI 0. 841~1. 343,P=0. 611;CC:OR=1. 140,95℅ CI 0. 184~1. 651,P=0. 493),폭로우C등위기인형(TC+CC:OR=1. 016,95℅ CI 0. 861~1. 344,P=0. 519). CHD조삼충기인형분포재CHDⅠ류、Ⅱ류화Ⅲ류분류중차이균무현저성. 결론 미발현중국한족인군 pri-miR-34b/c 기인다태성위점rs4938123여산발CHD역감성존재관련.
Objective To investigate the association between single nucleotide polymorphism (SNP) of pri-miR-34b/c gene and the susceptibility to congenital heart disease ( CHD) in the Chinese Han population. Method The associa-tion between one SNP loci in pri-miR-34b/c gene (rs4938123) and CHD susceptibility was investigated by TaqMan quantitative polymerase chain reaction ( PCR) in 590 CHD patients and 612 CHD-free controls, allele and genotype frequencies were also analyzed according the clinical datas. Result Three genotypes of rs4938123 ( TT, TC and CC) account for 43. 1℅(258/590), 44. 9℅(265/590),11. 4℅(61/590) in the CHD group, and 45. 5℅(306/612), 44. 1℅(296/612),10. 4℅(10/612) in the control group, respectively. There was no significant difference between two groups. Setting the TT genotype as the reference, OR values of TC and CC genotypes were 1. 063 (95℅ CI 0. 841~1. 343,P=0. 611) and 1. 140 (95℅ CI 0. 184~1. 651,P=0. 493), while the OR value for ex-posure to the C allele (TC+ CC)was 1. 016 (95℅ CI 0. 861~1. 344,P=0. 519). There was also no significant difference in CHD classificationⅠ,ⅡandⅢamong the three genotypes. Conclusion The study dose not find single nucleotide polymorphism of pri-miR-34b/c locus rs4938123 is associated with the susceptibility to sporadic CHD pa-tients in the Chinese Han population.
