中华风湿病学杂志
中華風濕病學雜誌
중화풍습병학잡지
CHINESE JOURNAL OF RHEUMATOLOGY
2012年
6期
406-410
,共5页
许菁%张源潮%孙红胜%李凤%刘东霞%胡乃文%赵娜%潘正论
許菁%張源潮%孫紅勝%李鳳%劉東霞%鬍迺文%趙娜%潘正論
허정%장원조%손홍성%리봉%류동하%호내문%조나%반정론
关节炎,类风湿%多态性,单核苷酸%疾病遗传易感性%Meta分析%肽酰基精氨酸脱亚氨酶4基因
關節炎,類風濕%多態性,單覈苷痠%疾病遺傳易感性%Meta分析%肽酰基精氨痠脫亞氨酶4基因
관절염,류풍습%다태성,단핵감산%질병유전역감성%Meta분석%태선기정안산탈아안매4기인
Arthritis,rheumatoid%Polymorphism,single nucleotide%Genetic predispositaon to disease%Meta-analysis%Peptidylarginine deiminase type Ⅳ gene
目的 系统分析和评价肽酰基精氨酸脱亚氨酶( PADI4)基因与类风湿关节炎(RA)的关联性,提供RA遗传背景的循证医学证据.方法 选择研究较为集中的PADI4基因的5个位点(rs11203366、rs11203367、rs874881、rs2240340、rs1748033),对已发表的有关PADI4基因多态性与RA的关联研究进行Meta分析,并利用在线软件,进行连锁分析.结果 分析共纳入21项研究,共计RA患者15 659例,健康对照22 019名.分析结果显示黄种人rs11203366、rsl 1203367、rs2240340、rs1748033位点基因多态性与RA存在关联(P值分别为＜0.01,0.03,＜0.01,＜0.01),白种人rsl 1203366、rs 11203367、rs874881位点基因多态性与RA存在关联(P=0.0002,0.004,0.03),但黄种人rs874881位点基因多态性与RA无关联性(P=0.2),白种人rs2240340、rs1748033位点基因多态性与RA无关联性(P=0.18,0.1).Meta分析研究结论与连锁不平衡分析的结论基本一致,造成某些偏差的原因可能是样本的选择、人群分层以及基因分型方法的差异性.结论 部分PADI4基因多态性与RA易感性相关联,基于单体型的关联研究和Meta分析将为进一步探讨其内在关联机制提供更为明确的方向.
目的 繫統分析和評價肽酰基精氨痠脫亞氨酶( PADI4)基因與類風濕關節炎(RA)的關聯性,提供RA遺傳揹景的循證醫學證據.方法 選擇研究較為集中的PADI4基因的5箇位點(rs11203366、rs11203367、rs874881、rs2240340、rs1748033),對已髮錶的有關PADI4基因多態性與RA的關聯研究進行Meta分析,併利用在線軟件,進行連鎖分析.結果 分析共納入21項研究,共計RA患者15 659例,健康對照22 019名.分析結果顯示黃種人rs11203366、rsl 1203367、rs2240340、rs1748033位點基因多態性與RA存在關聯(P值分彆為＜0.01,0.03,＜0.01,＜0.01),白種人rsl 1203366、rs 11203367、rs874881位點基因多態性與RA存在關聯(P=0.0002,0.004,0.03),但黃種人rs874881位點基因多態性與RA無關聯性(P=0.2),白種人rs2240340、rs1748033位點基因多態性與RA無關聯性(P=0.18,0.1).Meta分析研究結論與連鎖不平衡分析的結論基本一緻,造成某些偏差的原因可能是樣本的選擇、人群分層以及基因分型方法的差異性.結論 部分PADI4基因多態性與RA易感性相關聯,基于單體型的關聯研究和Meta分析將為進一步探討其內在關聯機製提供更為明確的方嚮.
목적 계통분석화평개태선기정안산탈아안매( PADI4)기인여류풍습관절염(RA)적관련성,제공RA유전배경적순증의학증거.방법 선택연구교위집중적PADI4기인적5개위점(rs11203366、rs11203367、rs874881、rs2240340、rs1748033),대이발표적유관PADI4기인다태성여RA적관련연구진행Meta분석,병이용재선연건,진행련쇄분석.결과 분석공납입21항연구,공계RA환자15 659례,건강대조22 019명.분석결과현시황충인rs11203366、rsl 1203367、rs2240340、rs1748033위점기인다태성여RA존재관련(P치분별위＜0.01,0.03,＜0.01,＜0.01),백충인rsl 1203366、rs 11203367、rs874881위점기인다태성여RA존재관련(P=0.0002,0.004,0.03),단황충인rs874881위점기인다태성여RA무관련성(P=0.2),백충인rs2240340、rs1748033위점기인다태성여RA무관련성(P=0.18,0.1).Meta분석연구결론여련쇄불평형분석적결론기본일치,조성모사편차적원인가능시양본적선택、인군분층이급기인분형방법적차이성.결론 부분PADI4기인다태성여RA역감성상관련,기우단체형적관련연구화Meta분석장위진일보탐토기내재관련궤제제공경위명학적방향.
Objective To systematically analyze and evaluate the association between the peptidylarginine deiminaseⅣ(PADI4) gene and rheumatoid arthritis (RA) based on the published data,and to provide evidence for the pathogenesis of RA.Methods By selecting five SNPs in PADI4 (rs11203366,rs11203367,rs874881,rs2240340,rs1748033) which had been extensively examined.Meta-analysis on each SNP was performed step by step according to Hugenet manual to investigate the association of the polymorphisms of the PADI4 gene with RA.Results This Meta-analysis enrolled 15 659 RA patients and 22 019 healthy controls from 21 studies worldwide.It demonstrated that rs11203366,rs11203367,rs2240340 and rs 1748033 confered susceptibility to RA in Asian ethnicity (P＜0.01,0.03,＜0.01,＜0.01),while rsl1203366,rsl1203367 and rs874881 confered susceptibility to RA in Caucasian of European ancestry (P=0.0002,0.004,0.03).It also shown that no significant association between rs874881 and RA in the Asian ethnicity populations (P=0.2),or rs2240340,rs1748033 and RA in Caucasian of European ancestry (P=0.18,0.1 ).A linkage disequilibrium study was also performed.The LD study showed that rs11203366,rs11203367,rs874881,rs2240340 and rs1748033 were in linkage disequilibrium both in the Asian ethnicity and Caucasian,which was basically inconsistent with the results of Meta-analysis.The conflicting results should be explained by many aspects such as bias in sample selection,genotyping,and the stratification.Conclusion The PADI4 genotype is partially associated with RA,and the underling mechanisms need further study.Haplotype based research and Metaanalysis would be valuable.
