CAJ | 학술논문

目的：研究新发现的肥胖症相关基因单核苷酸多态性（SNP）与中国儿童肥胖症的相关性。方法以2010年1月至9月在北京儿童医院就诊且无血缘关系的儿童肥胖症患者201例作为病例组，以同期无血缘关系的成年健康献血者183例为对照组。选取近期新发现的10个肥胖症相关基因的12个单核苷酸多态性（SNP）位点，运用飞行质谱技术对其与中国儿童肥胖症的相关性进行研究。两组等位基因和基因型频率的比较使用2×2、2×3、列联表χ2检验及Fisher精确概率法。结果在本课题所研究的10个新发现的肥胖症相关基因的12个SNP位点中，有3个等位基因频率在肥胖症患者中增加：FAIM2基因rs7138803位点的等位基因为A和G，其中A等位基因频率在肥胖症组明显高于对照组（35.5%比26.5%），2组比较差异有统计学意义（χ2=6.94，P=0.0084）；MTCH2基因rs10838738位点的等位基因为G和A，其中G等位基因频率在肥胖症组高于对照组（35.3%比27.7%，χ2=5.04，P=0.0248）；ETV5基因的rs7647305位点的等位基因为C和T，其中C等位基因频率在肥胖症组高于对照组（94.3%比90.5%，χ2=3.93，P=0.0475）。FAIM2基因的rs7138803AA的基因型频率在患者中显著增加，但是，MTCH2基因的rs10838738 GG和ETV5基因的rs7647305 CC在患者与对照中的基因型频率分布差异无统计学意义。结论与肥胖症相关的10个基因中，FAIM2基因的rs7138803 A、MTCH2基因的rs10838738 G以及ETV5基因的rs7647305 C等位基因与中国儿童肥胖症发生存在显著的相关性。
목적：연구신발현적비반증상관기인단핵감산다태성（SNP）여중국인동비반증적상관성。방법이2010년1월지9월재북경인동의원취진차무혈연관계적인동비반증환자201례작위병례조，이동기무혈연관계적성년건강헌혈자183례위대조조。선취근기신발현적10개비반증상관기인적12개단핵감산다태성（SNP）위점，운용비행질보기술대기여중국인동비반증적상관성진행연구。량조등위기인화기인형빈솔적비교사용2×2、2×3、렬련표χ2검험급Fisher정학개솔법。결과재본과제소연구적10개신발현적비반증상관기인적12개SNP위점중，유3개등위기인빈솔재비반증환자중증가：FAIM2기인rs7138803위점적등위기인위A화G，기중A등위기인빈솔재비반증조명현고우대조조（35.5%비26.5%），2조비교차이유통계학의의（χ2=6.94，P=0.0084）；MTCH2기인rs10838738위점적등위기인위G화A，기중G등위기인빈솔재비반증조고우대조조（35.3%비27.7%，χ2=5.04，P=0.0248）；ETV5기인적rs7647305위점적등위기인위C화T，기중C등위기인빈솔재비반증조고우대조조（94.3%비90.5%，χ2=3.93，P=0.0475）。FAIM2기인적rs7138803AA적기인형빈솔재환자중현저증가，단시，MTCH2기인적rs10838738 GG화ETV5기인적rs7647305 CC재환자여대조중적기인형빈솔분포차이무통계학의의。결론여비반증상관적10개기인중，FAIM2기인적rs7138803 A、MTCH2기인적rs10838738 G이급ETV5기인적rs7647305 C등위기인여중국인동비반증발생존재현저적상관성。
Objective To examine the association of newly identified obesity-related genes′SNPs with obesity in Chinese children. Methods A total of 201 Chinese children with obesity were selected as research subjects from January to September 2010. One hundred eighty three healthy adult blood donors were selected as normal controls. Mass spectrometry techniques were used to study the distributions of the alleles and genetype of newly identified obesity susceptibility loci in patients and controls. And the relationship between newly identified obesity-related loci gene polymorphism and obesity in Chinese children were studied. Results The distributions of three gene polymorphisms (rs7138803 of FAIM2 gene, A frequency of alleles in the obesity group was obviously higher than that of normal control group(35.5%to 26.5%), two groups compare difference was statistically significant (χ2=6.94,P=0.0084); rs10838738 of MTCH2 gene, G frequency of alleles in the obesity group was obviously higher than that of normal control group (35.3% to 27.7%), two groups compare difference was statistically significant (χ2=5.04,P=0.0248); and rs7647305 of ETV5 gene, C frequency of alleles in the obesity group was obviously higher than that of normal control group(94.3%to 90.5%)two groups compare difference was statistically significant(χ2=3.93,P=0.0475)) in obesity patients and healthy controls have significant differences. And the distributions of genetypes (rs7138803 of FAIM2 gene) in obesity patients and healthy controls have significant differences. Conclusion The gene polymorphisms of rs7138803 of FAIM2 gene, rs10838738 of MTCH2 gene and rs7647305 of ETV5 gene confer significant susceptibility to obesity in Chinese children.