中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2013年
10期
697-701
,共5页
蔡春泉%石鸥燕%沈永明%马骁
蔡春泉%石鷗燕%瀋永明%馬驍
채춘천%석구연%침영명%마효
神经管缺损%Frizzled受体%多态性,单核苷酸
神經管缺損%Frizzled受體%多態性,單覈苷痠
신경관결손%Frizzled수체%다태성,단핵감산
Neural tube defects%Frizzled receptors%Polymorphisms,single nucleotide
目的 研究中国北方汉族儿童卷曲蛋白6基因编码区单核苷酸多态性(singlenucleotide polymorphisms,SNPs)与神经管缺陷(neural tube defects,NTDs)发生的相关性.方法 采用PCR扩增和测序的方法对135例NTDs患儿和135例对照者卷曲蛋白6基因编码区3个错义单核苷酸多态位点(rs827528,rs3808553,rs12549394)进行基因分型及统计学分析.结果 rs3808553等位基因T和基因型TT在病例组中的频率显著高于对照组,T等位基因和TT基因型儿童发生NTDs的危险性分别是G等位基因和GG基因型的1.575倍(OR=1.575,95％CI1.112 ～2.230,P=0.010)和2.811倍(OR =2.811,95％CI 1.325～5.967,P=0.023)；其余2个多态位点在两组间等位基因与基因型分布差异不具有统计学意义.3个SNPs位点间的单体型A-G-C在病例-对照组间分布具有统计学意义(OR =0.560,95％CI0.378～0.830,P=0.004),而单体型A-T-C在病例-对照组间分布也具有统计学意义(OR=1.670,95％CI 1.126 ～2.475,P=0.011).结论 中国北方汉族儿童中卷曲蛋白6基因rs3808553位点多态性与NTDs发生具有明显相关性,基因型TT使NTDs发生的危险度增加,而rs827528和rs 12549394位点多态性与NTDs发生无明显相关性.
目的 研究中國北方漢族兒童捲麯蛋白6基因編碼區單覈苷痠多態性(singlenucleotide polymorphisms,SNPs)與神經管缺陷(neural tube defects,NTDs)髮生的相關性.方法 採用PCR擴增和測序的方法對135例NTDs患兒和135例對照者捲麯蛋白6基因編碼區3箇錯義單覈苷痠多態位點(rs827528,rs3808553,rs12549394)進行基因分型及統計學分析.結果 rs3808553等位基因T和基因型TT在病例組中的頻率顯著高于對照組,T等位基因和TT基因型兒童髮生NTDs的危險性分彆是G等位基因和GG基因型的1.575倍(OR=1.575,95％CI1.112 ～2.230,P=0.010)和2.811倍(OR =2.811,95％CI 1.325～5.967,P=0.023)；其餘2箇多態位點在兩組間等位基因與基因型分佈差異不具有統計學意義.3箇SNPs位點間的單體型A-G-C在病例-對照組間分佈具有統計學意義(OR =0.560,95％CI0.378～0.830,P=0.004),而單體型A-T-C在病例-對照組間分佈也具有統計學意義(OR=1.670,95％CI 1.126 ～2.475,P=0.011).結論 中國北方漢族兒童中捲麯蛋白6基因rs3808553位點多態性與NTDs髮生具有明顯相關性,基因型TT使NTDs髮生的危險度增加,而rs827528和rs 12549394位點多態性與NTDs髮生無明顯相關性.
목적 연구중국북방한족인동권곡단백6기인편마구단핵감산다태성(singlenucleotide polymorphisms,SNPs)여신경관결함(neural tube defects,NTDs)발생적상관성.방법 채용PCR확증화측서적방법대135례NTDs환인화135례대조자권곡단백6기인편마구3개착의단핵감산다태위점(rs827528,rs3808553,rs12549394)진행기인분형급통계학분석.결과 rs3808553등위기인T화기인형TT재병례조중적빈솔현저고우대조조,T등위기인화TT기인형인동발생NTDs적위험성분별시G등위기인화GG기인형적1.575배(OR=1.575,95％CI1.112 ～2.230,P=0.010)화2.811배(OR =2.811,95％CI 1.325～5.967,P=0.023)；기여2개다태위점재량조간등위기인여기인형분포차이불구유통계학의의.3개SNPs위점간적단체형A-G-C재병례-대조조간분포구유통계학의의(OR =0.560,95％CI0.378～0.830,P=0.004),이단체형A-T-C재병례-대조조간분포야구유통계학의의(OR=1.670,95％CI 1.126 ～2.475,P=0.011).결론 중국북방한족인동중권곡단백6기인rs3808553위점다태성여NTDs발생구유명현상관성,기인형TT사NTDs발생적위험도증가,이rs827528화rs 12549394위점다태성여NTDs발생무명현상관성.
Objective To study the association of single nucleotide polymorphisms (SNPs) of the frizzled 6(FZD6) gene with neural tube defects(NTDs) in a northern Han Chinese population.Methods Three nonsynonymous SNPs in the FZD6 gene (rs827528,rs3808553,rs12549394) were examined.The SNPs were genotyped by polymerase chain reaction (PCR) and sequencing in 135 NTD patients and matched normal controls.The allele,genotype and haplotype frequencies were calculated and analyzed to examine the association between FZD6 SNPs and NTDs.Results Both T allele and TT genotype frequencies of the rs3808553 polymorphism in the NTDs group were significantly higher than those in the controls,and children with T allele and TT genotype were associated with increased risk of NTDs (OR =1.575,95％ CI 1.112-2.230,P =0.010 and OR =2.811,95％ CI 1.325-5.967,P =0.023 respectively).There were no significant differences among different genotypes or alleles in both rs827528 and rs12549394.Haplotypes AG-C and A-T-C were found associated with NTDs in the case-control study (OR =0.560,95％ CI 0.378-0.830,P=0.004 and OR=1.670,95％CI 1.126-2.475,P =0.011 respectively).Conclusions The rs3808553 polymorphism of FZD6 is obviously associated with NTDs in children of northern Han Chinese population.The TT genotype may increase the risk for NTDs.The rs827528 and rs12549394 polymorphisms of FZD6 may have no association with NTDs.
