中华精神科杂志
中華精神科雜誌
중화정신과잡지
CHINESE JOURNA OF PSYCHIATRY
2013年
1期
37-42
,共6页
吴俊瑶%向波%马小红%王英成%邓伟%陈壮飞%李名立%王强%何宗岭
吳俊瑤%嚮波%馬小紅%王英成%鄧偉%陳壯飛%李名立%王彊%何宗嶺
오준요%향파%마소홍%왕영성%산위%진장비%리명립%왕강%하종령
精神分裂症%全基因组关联分析%注意及执行功能%内表型
精神分裂癥%全基因組關聯分析%註意及執行功能%內錶型
정신분렬증%전기인조관련분석%주의급집행공능%내표형
Schizophrenia%Genome-wide association study%Attention and executive function%Endophenotype
目的 以认知功能中的注意和执行功能为内表型,运用全基因组关联分析策略寻找精神分裂症的相关基因.方法 采用连线测验评估98例精神分裂症患者(患者组)和60名正常对照者(对照组)的注意和执行功能;使用IlluminaHumanHap660 BeadArray进行基因分型,有464 301个单核苷酸多态性(single nucleotide polymorphisms,SNPs)通过质量控制用于本研究的关联分析;以SNPs为分析因素,年龄、性别和受教育年限为协变量,连线测验结果为数量性状,用PLINK软件分别对患者组和对照组作主效应分析.结果 PTPRC基因的2个SNPs位点与精神分裂症的注意功能缺损有关联(rs3767742,p=1.83 ×10-5;rs12409128,P=4.50×10-6);UGT2AI、VPS13A和CNTNI 3个基因内的10个SNPs位点与精神分裂症的执行功能缺陷有关联(rs10011630,P =5.88×10-8;rs4148284,P=5.88×10-8:rs4148283,P=5.88×10-8;rs4148282,P=5.88×10-8;rs7030802,P=2.91×10-6;rs12343395,P =4.30×10-6;rs7035855,P=2.91×10-6;rs7039192,P=2.91 ×10-6;rs12316203,P=2.91×10-6:rs13328933,P =2.91×10-6),且这些位点与个体患精神分裂症的状态存在交互作用.结论 PTPRC 、UCT2A1 、VPS13A和CNTN1可能是精神分裂症的易感基因,尚待进一步验证.
目的 以認知功能中的註意和執行功能為內錶型,運用全基因組關聯分析策略尋找精神分裂癥的相關基因.方法 採用連線測驗評估98例精神分裂癥患者(患者組)和60名正常對照者(對照組)的註意和執行功能;使用IlluminaHumanHap660 BeadArray進行基因分型,有464 301箇單覈苷痠多態性(single nucleotide polymorphisms,SNPs)通過質量控製用于本研究的關聯分析;以SNPs為分析因素,年齡、性彆和受教育年限為協變量,連線測驗結果為數量性狀,用PLINK軟件分彆對患者組和對照組作主效應分析.結果 PTPRC基因的2箇SNPs位點與精神分裂癥的註意功能缺損有關聯(rs3767742,p=1.83 ×10-5;rs12409128,P=4.50×10-6);UGT2AI、VPS13A和CNTNI 3箇基因內的10箇SNPs位點與精神分裂癥的執行功能缺陷有關聯(rs10011630,P =5.88×10-8;rs4148284,P=5.88×10-8:rs4148283,P=5.88×10-8;rs4148282,P=5.88×10-8;rs7030802,P=2.91×10-6;rs12343395,P =4.30×10-6;rs7035855,P=2.91×10-6;rs7039192,P=2.91 ×10-6;rs12316203,P=2.91×10-6:rs13328933,P =2.91×10-6),且這些位點與箇體患精神分裂癥的狀態存在交互作用.結論 PTPRC 、UCT2A1 、VPS13A和CNTN1可能是精神分裂癥的易感基因,尚待進一步驗證.
목적 이인지공능중적주의화집행공능위내표형,운용전기인조관련분석책략심조정신분렬증적상관기인.방법 채용련선측험평고98례정신분렬증환자(환자조)화60명정상대조자(대조조)적주의화집행공능;사용IlluminaHumanHap660 BeadArray진행기인분형,유464 301개단핵감산다태성(single nucleotide polymorphisms,SNPs)통과질량공제용우본연구적관련분석;이SNPs위분석인소,년령、성별화수교육년한위협변량,련선측험결과위수량성상,용PLINK연건분별대환자조화대조조작주효응분석.결과 PTPRC기인적2개SNPs위점여정신분렬증적주의공능결손유관련(rs3767742,p=1.83 ×10-5;rs12409128,P=4.50×10-6);UGT2AI、VPS13A화CNTNI 3개기인내적10개SNPs위점여정신분렬증적집행공능결함유관련(rs10011630,P =5.88×10-8;rs4148284,P=5.88×10-8:rs4148283,P=5.88×10-8;rs4148282,P=5.88×10-8;rs7030802,P=2.91×10-6;rs12343395,P =4.30×10-6;rs7035855,P=2.91×10-6;rs7039192,P=2.91 ×10-6;rs12316203,P=2.91×10-6:rs13328933,P =2.91×10-6),차저사위점여개체환정신분렬증적상태존재교호작용.결론 PTPRC 、UCT2A1 、VPS13A화CNTN1가능시정신분렬증적역감기인,상대진일보험증.
Objective The study used genome-wide association study (GWAS) to explore related genes for schizophrenia with attention and executive function of cognition as endophenotypes.Methods Trial making tests were used to assess attention and executive function in 98 schizophrenia patients and 60 normal controls.HumanHap660 BeadArray was used to genotype and 464 301 SNPs passed quality control checks.Taking SNPs as analytic factors,age,gender and education years as covariates,trial making tests as quantitative traits,the study used PLINK software to complete main effect analyses of the case group and the control group.Results Two SNPs residing on PTPRC were associated with attention deficit(rs3767742,P =1.83 × 10-5 ; rs12409128,P =4.50 × 10-6) ; 10 SNPs which locate in UGT2A1,VPS13A and CNTN1 respectively were associated with executive function deficit (rs10011630,P =5.88 × 10-8 ; rs4148284,P =5.88 × 10-8 ; rs4148283,P =5.88 × 10-8 ; rs4148282,P =5.88 × 10-8 ; rs7030802,P =2.91 × 10-6 ;rs12343395,P =4.30 × 10-6 ;rs7035855,P =2.91 × 10-6 ; rs7039192,P =2.91×10-6 ; rs12316203,P =2.91 × 10-6; rs13328933,P =2.91 × 10-6),moreover,these SNPs had interaction with individual schizophrenia state.Conclusions PTPRC,UGT2AI,VPS13A and CNTN1 may be the susceptibility genes for schizophrenia that merit further investigation.