γ-氨基丁酸A受体基因多态性与儿童孤独症的关系
γ-안기정산A수체기인다태성여인동고독증적관계
Relationship between gene polymorphism of GABAA receptors gene and childhood autism
  • 万方数据
    中华预防医学杂志 중화예방의학잡지
    CHINESE JOURNAL OF
    2012年 5期 460-464 ,共5页

    卢国斌%欧萍%徐两蒲%黄海龙%成玲%杨式薇%钱沁芳%黄艳%谢燕钦%余秋娟%王章琼%林元

    로국빈%구평%서량포%황해룡%성령%양식미%전심방%황염%사연흠%여추연%왕장경%림원

    孤独性障碍多态性%单核苷酸%儿童%GABAA受体基因 孤獨性障礙多態性%單覈苷痠%兒童%GABAA受體基因
    고독성장애다태성%단핵감산%인동%GABAA수체기인
    Autistic disorder%Polynorphism siugle nucleotide%Ctild%GABAA receptors gene
    目的 探讨γ-氨基丁酸(GABA)A受体基因rs140682、rs2081648和rs140679位点多态性与儿童孤独症的关系.方法 选取2010年11月至2011年5月在某医院诊治的94例孤独症患儿为病例组,选取124名正常儿童为对照组.采用孤独症儿童行为检查量表(ABC)、儿童孤独症评定量表(CARS)对病例组进行调查.对调查对象采集静脉血,提取基因组DNA,通过PCR-RFLP法进行酶切、基因测序并测定基因型.对病例组和对照组基因型、等位基因分布情况进行χ2检验,与各量表得分进行Spearman等级相关分析.结果 病例组和对照组年龄分别为(5.12±0.32)、(5.25±0.27)岁(P＜0.05).病例组中rs140682位点为CC、CT、TT基因型者分别为44、41、9例,对照组中分别为48、65、11名,两组基因型分布差异无统计学意义(P＞0.05)；病例组中rs2081648位点为AA、AG、GG基因型者分别为8、58、28例,对照组分别为12、49、63名,两组基因型分布差异有统计学意义(P＜0.05)；病例组中rs140679位点为CC、CT、Tr基因型者分别为15、36、43例,对照组分别为18、59、47名,两组基因型分布差异无统计学意义(P＞0.05).经Speaman等级相关分析结果显示,在rs2081648位点中,ABC量表的感觉因子(S)、交往因子(R)、语言因子(L)与AG基因型呈正相关(r值依次为0.149、0.165、0.155,P值均＜0.05),S、R、L及生活自理因子(V)与GG基因型呈负相关(r值依次为-0.140、-0.173、-0.158、-0.135,P值均＜0.05),R、L与等位基因A呈正相关(r值依次为0.153、0.137,P值均＜0.05),R、L与等位基因G呈负相关(r值依次为-0.153、-0.137,P值均＜0.05).经CARS量表判断,病例组中42例儿童为轻冲度孤独症,52例为重度孤独症.rs140682、rs 140679位点基因型及等位基因与孤独症病情严重程度无相关性(p＞0.05)；在rs2081648位点中,孤独症病情严重程度与AG基因型及等位基因A呈正相关(r值依次为0.147、0.616,P值均＜0.05),与GG基因型及等位基因G呈负相关(r值依次为-0.159、-0.616,P值均＜0.05).结论 GABAA受体基因rs2081 648位点多态性可能与孤独症有关联,未发现rs140682和rs140679位点与孤独症相关的证据.
    목적 탐토γ-안기정산(GABA)A수체기인rs140682、rs2081648화rs140679위점다태성여인동고독증적관계.방법 선취2010년11월지2011년5월재모의원진치적94례고독증환인위병례조,선취124명정상인동위대조조.채용고독증인동행위검사량표(ABC)、인동고독증평정량표(CARS)대병례조진행조사.대조사대상채집정맥혈,제취기인조DNA,통과PCR-RFLP법진행매절、기인측서병측정기인형.대병례조화대조조기인형、등위기인분포정황진행χ2검험,여각량표득분진행Spearman등급상관분석.결과 병례조화대조조년령분별위(5.12±0.32)、(5.25±0.27)세(P＜0.05).병례조중rs140682위점위CC、CT、TT기인형자분별위44、41、9례,대조조중분별위48、65、11명,량조기인형분포차이무통계학의의(P＞0.05)；병례조중rs2081648위점위AA、AG、GG기인형자분별위8、58、28례,대조조분별위12、49、63명,량조기인형분포차이유통계학의의(P＜0.05)；병례조중rs140679위점위CC、CT、Tr기인형자분별위15、36、43례,대조조분별위18、59、47명,량조기인형분포차이무통계학의의(P＞0.05).경Speaman등급상관분석결과현시,재rs2081648위점중,ABC량표적감각인자(S)、교왕인자(R)、어언인자(L)여AG기인형정정상관(r치의차위0.149、0.165、0.155,P치균＜0.05),S、R、L급생활자리인자(V)여GG기인형정부상관(r치의차위-0.140、-0.173、-0.158、-0.135,P치균＜0.05),R、L여등위기인A정정상관(r치의차위0.153、0.137,P치균＜0.05),R、L여등위기인G정부상관(r치의차위-0.153、-0.137,P치균＜0.05).경CARS량표판단,병례조중42례인동위경충도고독증,52례위중도고독증.rs140682、rs 140679위점기인형급등위기인여고독증병정엄중정도무상관성(p＞0.05)；재rs2081648위점중,고독증병정엄중정도여AG기인형급등위기인A정정상관(r치의차위0.147、0.616,P치균＜0.05),여GG기인형급등위기인G정부상관(r치의차위-0.159、-0.616,P치균＜0.05).결론 GABAA수체기인rs2081 648위점다태성가능여고독증유관련,미발현rs140682화rs140679위점여고독증상관적증거.
    Objective To explore the relationship between gene polymorphism of GABAA receptors and childhood autism by detecting rs140682,rs2081648 and rs140679 site of single nucleotide polymorphism (SNP) in GABAA receptors gene.Methods A total of 94 children with autism and 124 normal children were enrolled in a hospital from November 2010 to May 2011.Childhood autism rating scale(CARS) and autism behavior checklist(ABC) were used to evaluate or investigate the case group.After collecting venous blood and extracting the genome DNA,the allele and genotype of SNP rs140682,rs2081648 and rs140679 site in GABAA receptors gene were detected by PCR-RFLP.The allele and genotype of case group and control group were analized by χ2 test,while the score of scales was analized by Spearman rank conrelation analysis.Results The age of the case group was 5.12 ±0.32,and it was 5.25 ± 0.27 in the control group ( P ＜0.05 ).In case group,the frequency of genotype CC,CT and TT of rs140682 site was 44,41 and 9,while it was 48,65,and 11 in control group(P ＞0.05 ),respectively.The frequency of genotype AA,AG and GG of rs2081648 site was 8,58 and 28 in case group,while it was 12,49 and 63 in control group( P ＜ 0.05),respectively.In case group,the frequency of genotype CC,CT and TT of rs140679 site was 15,36 and 43,while it was 18,59 and 47 in control group( P ＞0.05 ),respectively.It was revealed by Spearmanrank correlation analysis that of rs2081648 site,there was a positive correlation between genotype AG andsensation factor( S ),so cial intercourse factor ( R ),and language factor ( L ) of autism behavior checklist (ABC) (r values were 0.149,0.165 and 0.155,all P values ＜0.05 ).A negative correlation between genotype GG and S,R,L and self-help factor(V) was proved(r values were -0.140,-0.173,-0.158 and -0.135,all P values ＜0.05 ).There was a positive correlation between allele A and R and L factors(r values were 0.153 and 0.137,all P values ＜ 0.05 ),while a negative correlation between allele G and R and L factors (r values were -0.153 and -0.137,all P values ＜0.05).In case group,42 children were diagnosed with mild-to-moderate autism,while 52 children were severe autism.There was no statistically significant correlation between allele or genotype of SNP rs140682 and rs140679 site and the degree of autism ( P ＞ 0.05 ).There was a positive correlation between allele A and genotype AG and the degree of autism( r values were 0.147 and 0.616,all P values ＜ 0.05 ),while a negative eorrelation between allele G and genotype GG and the degree of autism ( r values were - 0.159 and - 0.616,all P values ＜0.05).Conclusion The SNP rs2081648 site which located in GABAA receptors gene may be related to autism.No evidence for significant association between rs140682 and rs140679 site and autism was found.
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