中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2013年
9期
581-585
,共5页
刘猛%王玉鸽%胡学强%吴坚
劉猛%王玉鴿%鬍學彊%吳堅
류맹%왕옥합%호학강%오견
多发性硬化%受体,白细胞介素%多态性,单核苷酸
多髮性硬化%受體,白細胞介素%多態性,單覈苷痠
다발성경화%수체,백세포개소%다태성,단핵감산
Multiple sclerosis%Receptors,interleukin%Polymorphism,single nucleotide
目的 探讨白细胞介素23受体(IL23R)基因单核苷酸多态性(SNPs)与中国南方汉族人群多发性硬化(MS)的相关性.方法 选取IL23R基因3个SNPs位点(rs2201841、rs10889677、rs7517847),采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测178例MS患者和221名健康对照者IL23R基因的多态性,分析其与MS的相关性,并采用SHEsis软件进行连锁不平衡和单倍型分析.结果 IL23R基因rs2201841[TT、TC、CC 3种基因型在病例组为5.7％(10/175)、45.7％(80/175)、48.6％(85/175),在对照组为7.4％ (16/217)、41.0％ (89/217)、51.6％ (112/217)；x2=1.08,P=0.58]、rs10889677[AA、AC、CC 3种基因型在病例组为52.0％(89/171)、42.7％(73/171)、5.3％(9/171),在对照组为57.7％(123/213)、36.2％(77/213)、6.1％(13/213)；x2=1.71,P=0.43]、rs7517847位点[GG、GT、TT3种基因型在病例组为16.9％(29/172)、51.7％(89/172)、31.4％(54/172),在对照组为14.4％(31/215)、49.3％(106/215)、36.3％ (78/215)；x2=1.15,P=0.56]各基因型与等位基因频率分布在两组之间差异均无统计学意义；MS患者SNPs位点各基因型之间首次发病年龄、病程及扩展残疾状态评分比较差异均无统计学意义.IL23R基因rs2201841和rs10889677位点存在连锁不平衡关系(D’=0.614,r2=0.327),进一步分析发现各单倍体频率分布在病例组和对照组之间差异均无统计学意义.结论 在中国南方汉族人群中,IL23R基因3个单核苷酸位点(rs2201841、rs10889677、rs7517847)多态性与MS之间无相关性.
目的 探討白細胞介素23受體(IL23R)基因單覈苷痠多態性(SNPs)與中國南方漢族人群多髮性硬化(MS)的相關性.方法 選取IL23R基因3箇SNPs位點(rs2201841、rs10889677、rs7517847),採用聚閤酶鏈反應-限製性片段長度多態性(PCR-RFLP)方法檢測178例MS患者和221名健康對照者IL23R基因的多態性,分析其與MS的相關性,併採用SHEsis軟件進行連鎖不平衡和單倍型分析.結果 IL23R基因rs2201841[TT、TC、CC 3種基因型在病例組為5.7％(10/175)、45.7％(80/175)、48.6％(85/175),在對照組為7.4％ (16/217)、41.0％ (89/217)、51.6％ (112/217)；x2=1.08,P=0.58]、rs10889677[AA、AC、CC 3種基因型在病例組為52.0％(89/171)、42.7％(73/171)、5.3％(9/171),在對照組為57.7％(123/213)、36.2％(77/213)、6.1％(13/213)；x2=1.71,P=0.43]、rs7517847位點[GG、GT、TT3種基因型在病例組為16.9％(29/172)、51.7％(89/172)、31.4％(54/172),在對照組為14.4％(31/215)、49.3％(106/215)、36.3％ (78/215)；x2=1.15,P=0.56]各基因型與等位基因頻率分佈在兩組之間差異均無統計學意義；MS患者SNPs位點各基因型之間首次髮病年齡、病程及擴展殘疾狀態評分比較差異均無統計學意義.IL23R基因rs2201841和rs10889677位點存在連鎖不平衡關繫(D’=0.614,r2=0.327),進一步分析髮現各單倍體頻率分佈在病例組和對照組之間差異均無統計學意義.結論 在中國南方漢族人群中,IL23R基因3箇單覈苷痠位點(rs2201841、rs10889677、rs7517847)多態性與MS之間無相關性.
목적 탐토백세포개소23수체(IL23R)기인단핵감산다태성(SNPs)여중국남방한족인군다발성경화(MS)적상관성.방법 선취IL23R기인3개SNPs위점(rs2201841、rs10889677、rs7517847),채용취합매련반응-한제성편단장도다태성(PCR-RFLP)방법검측178례MS환자화221명건강대조자IL23R기인적다태성,분석기여MS적상관성,병채용SHEsis연건진행련쇄불평형화단배형분석.결과 IL23R기인rs2201841[TT、TC、CC 3충기인형재병례조위5.7％(10/175)、45.7％(80/175)、48.6％(85/175),재대조조위7.4％ (16/217)、41.0％ (89/217)、51.6％ (112/217)；x2=1.08,P=0.58]、rs10889677[AA、AC、CC 3충기인형재병례조위52.0％(89/171)、42.7％(73/171)、5.3％(9/171),재대조조위57.7％(123/213)、36.2％(77/213)、6.1％(13/213)；x2=1.71,P=0.43]、rs7517847위점[GG、GT、TT3충기인형재병례조위16.9％(29/172)、51.7％(89/172)、31.4％(54/172),재대조조위14.4％(31/215)、49.3％(106/215)、36.3％ (78/215)；x2=1.15,P=0.56]각기인형여등위기인빈솔분포재량조지간차이균무통계학의의；MS환자SNPs위점각기인형지간수차발병년령、병정급확전잔질상태평분비교차이균무통계학의의.IL23R기인rs2201841화rs10889677위점존재련쇄불평형관계(D’=0.614,r2=0.327),진일보분석발현각단배체빈솔분포재병례조화대조조지간차이균무통계학의의.결론 재중국남방한족인군중,IL23R기인3개단핵감산위점(rs2201841、rs10889677、rs7517847)다태성여MS지간무상관성.
Objective To analyze the association between interleukin-23 receptor (IL23R) gene single nucleotide polymorphisms (SNPs) and multiple sclerosis (MS) in a Southern Han Chinese population.Methods Three SNPs (rs2201841,rs10889677,rs7517847) within the IL23R gene were detected in 178 MS patients and 221 controls using polymerase chain reaction and restriction fragment length polymorphism method (PCR-RFLP).Haplotypes of the IL23R gene were constructed with SHEsis software.Results The frequencies of the genotype or allele in the IL23R gene SNPs(rs2201841:TT,TC,CC in MS patients:5.7％ (10/175),45.7％ (80/175),48.6％ (85/175),in controls:7.4％ (16/217),41.0％ (89/217),51.6％ (112/217),x2 =1.08,P =0.58 ; rs10889677:AA,AC,CC in MS patients:52.0％ (89/171),42.7％ (73/171),5.3％ (9/171),in controls:57.7％ (123/213),36.2％ (77/213),6.1％ (13/213),x2 =1.71,P =0.43 ; rs7517847:GG,GT,TT in MS patients:16.9％ (29/172),51.7％(89/172),31.4％ (54/172),in controls:14.4％ (31/215),49.3％ (106/215),36.3％(78/215),x2=1.15,P =0.56)showed no significant difference between MS patients and controls.The genotype did not influence the age of onset,the duration or disease severity in MS patients.The SNPs rs2201841 and rs10889677 had strong linkage disequlibrium (D' =0.614,r2 =0.327).The haplotype frequencies showed no significant difference between the MS patients and controls.Conclusion There is no evidence in our study to support the association between IL23R SNPs and MS in a Southern Han Chinese population.
