中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2011年
6期
683-685
,共3页
李发贵%楚轶%孟冬梅%佟雅文
李髮貴%楚軼%孟鼕梅%佟雅文
리발귀%초질%맹동매%동아문
三磷酸腺苷结合转运蛋白G超家族成员Z基因%单核甘酸多态%痛风
三燐痠腺苷結閤轉運蛋白G超傢族成員Z基因%單覈甘痠多態%痛風
삼린산선감결합전운단백G초가족성원Z기인%단핵감산다태%통풍
ABCG2%single nucleotide polymorphism%gout
目的 研究三磷酸腺苷结合转运蛋白G超家族成员2基因( ATP-binding cassette,subfamily G(WHITE),member 2；ABCG2)第5外显子C421A单核苷酸多态(single nucleotide polymorphism,SNP)(rs2231142)与中国汉族男性原发性痛风发病的相关性.方法 采用PCR扩增及序列测定方法,对200例原发性痛风和235名对照的ABCG2基因C421A SNP进行分析.采用全自动生化仪检测血糖、甘油三酯、尿酸、胆固醇、肌酐、尿素氮等生化指标.结果 ABCG2基因C421A SNP的A等位基因频率在痛风组显著高于对照组(分别为44.9％和32.3％,P＜0.01)；AA基因型与原发性痛风的患病显著相关(x2=15.91,P＜0.01,crude OR=3.02,95％ CI:1.36～4.90)；AA基因型个体发生原发性痛风的风险为CC基因型和CA基因型的3.02倍,年龄校正后为1.8倍(OR= 1.8,x2=15.91,P＜0.01,95％CI:1.32～2.45).痛风组血糖、甘油三酯、尿酸、肌酐、尿素氮均显著高于对照组(P＜0.01).结论 ABCG2基因的C421A SNP多态,尤其是AA基因型可能与中国汉族男性发生原发性痛风密切相关.
目的 研究三燐痠腺苷結閤轉運蛋白G超傢族成員2基因( ATP-binding cassette,subfamily G(WHITE),member 2；ABCG2)第5外顯子C421A單覈苷痠多態(single nucleotide polymorphism,SNP)(rs2231142)與中國漢族男性原髮性痛風髮病的相關性.方法 採用PCR擴增及序列測定方法,對200例原髮性痛風和235名對照的ABCG2基因C421A SNP進行分析.採用全自動生化儀檢測血糖、甘油三酯、尿痠、膽固醇、肌酐、尿素氮等生化指標.結果 ABCG2基因C421A SNP的A等位基因頻率在痛風組顯著高于對照組(分彆為44.9％和32.3％,P＜0.01)；AA基因型與原髮性痛風的患病顯著相關(x2=15.91,P＜0.01,crude OR=3.02,95％ CI:1.36～4.90)；AA基因型箇體髮生原髮性痛風的風險為CC基因型和CA基因型的3.02倍,年齡校正後為1.8倍(OR= 1.8,x2=15.91,P＜0.01,95％CI:1.32～2.45).痛風組血糖、甘油三酯、尿痠、肌酐、尿素氮均顯著高于對照組(P＜0.01).結論 ABCG2基因的C421A SNP多態,尤其是AA基因型可能與中國漢族男性髮生原髮性痛風密切相關.
목적 연구삼린산선감결합전운단백G초가족성원2기인( ATP-binding cassette,subfamily G(WHITE),member 2；ABCG2)제5외현자C421A단핵감산다태(single nucleotide polymorphism,SNP)(rs2231142)여중국한족남성원발성통풍발병적상관성.방법 채용PCR확증급서렬측정방법,대200례원발성통풍화235명대조적ABCG2기인C421A SNP진행분석.채용전자동생화의검측혈당、감유삼지、뇨산、담고순、기항、뇨소담등생화지표.결과 ABCG2기인C421A SNP적A등위기인빈솔재통풍조현저고우대조조(분별위44.9％화32.3％,P＜0.01)；AA기인형여원발성통풍적환병현저상관(x2=15.91,P＜0.01,crude OR=3.02,95％ CI:1.36～4.90)；AA기인형개체발생원발성통풍적풍험위CC기인형화CA기인형적3.02배,년령교정후위1.8배(OR= 1.8,x2=15.91,P＜0.01,95％CI:1.32～2.45).통풍조혈당、감유삼지、뇨산、기항、뇨소담균현저고우대조조(P＜0.01).결론 ABCG2기인적C421A SNP다태,우기시AA기인형가능여중국한족남성발생원발성통풍밀절상관.
Objective To assess the association between a C421A single nucleotide polymorphism (SNP) in exon 5 of ATP-binding cassette,sub-family G (WHITE),member 2 (ABCG2)gene and susceptibility of primary gout in Han Chinese males.Methods For 200 male patients with primary gout and 235 controls,the genotype of C421A locus was analyzed by PCR and direct sequencing.Blood glucose,uric acid,total cholesterol,triglycerides,creatinine and urea nitrogen was measured by an automatic biochemical analyzer.Results Compared with the controls,there was a higher frequency for AA genotype and A allele of the rs2231142 SNP in gout patients (22.5％ vs.8.5％ by genotype; 44.9％ vs.32.3％ by allele).The association with gout reached significance (x2 = 15.91,P＜0.001,crude OR=3.02,95％ CI:1.36-4.90and OR (adjusted by age) = 1.80,95％ CI:1.32-2.45 by dominant mode; x2 =6.82,P=0.009,OR=1.67,95％ CI:1.54-2.27 by recessive mode).Blood glucose,uric acid,triglycerides,creatinine and urea nitrogen levels in gout patients were significantly higher than those of controls (P＜0.001).Conclusion The C421A SNP,in particular AA phenotype,may be associated with susceptibility of primary gout in Han Chinese males.
