CAJ | 학술논문

目的研究FTO(fat-mass and obesity associated)基因SNP rs9939609和rs1421085多态性与儿童青少年单纯性肥胖及其代谢指标的相关性.方法以2004至2006年于复旦大学附属儿科医院内分泌门诊就诊的汉族单纯性肥胖和超重儿童青少年分别作为肥胖组和超重组;选择上海市某中学正常体重汉族学生作为正常对照组.分别测量身高和体重,计算BMI.测定血清空腹葡萄糖(FPG)、空腹胰岛素(FIns)、三酰甘油(TG)和总胆固醇(TC)水平.计算胰岛素抵抗指数(HOMA-IR)和胰岛素敏感指数(QUICKI).抽提外周血基因组DNA,采用Taqman-MGB探针技术检测FTO基因SNP rs9939609和rs1421085多态性,分析不同基因型与代谢指标和BMI的相关性.结果肥胖组纳入236例,超重组纳入239例,正常对照组纳入241名.①肥胖+超重组的BMI、FPG、FIns、TG和 HOMA-IR显著高于正常对照组;②肥胖、超重和正常对照组rs9939609分型成功率分别为94.9%(224/236例)、97.9(234/239例)和95.9%(231/241名),rs1421085分型成功率分别为92.8%(219/236例)、97.1%(232/239例)和95.4%(230/241名).rs9939609 AA基因型频率:肥胖组为2.7%,超重组为0.4%,正常对照组为1.7%,肥胖+超重组A等位基因频率显著高于正常对照组(OR=1.437,P=0.048);rs1421085 CC基因型频率:肥胖组为2.7%,超重组为0.9%,正常对照组为1.7%,肥胖+超重组C等位基因频率高于正常对照组,但差异无统计学意义(OR=1.388,P=0.076 0);③rs1421085 TC +CC基因型和rs9939609 TA +AA 基因型儿童青少年的BMI显著高于TT基因型(rs9939609:P=0.000 3;rs1421085:P=0.000 5);rs1421085 TC +CC基因型和rs9939609 TA +AA 基因型与FPG、FIns、TG、TC、HOMA-IR、QUICKI无显著相关性.结论 FTO基因SNP rs9939609和rs1421085多态性与中国汉族儿童青少年肥胖和(或)超重存在相关性.A等位基因频率远低于欧洲人群,对BMI的作用效果与欧洲人群相似,但对代谢指标影响存在显著差异.
목적 연구FTO(fat-mass and obesity associated)기인SNP rs9939609화rs1421085다태성여인동청소년단순성비반급기대사지표적상관성.방법 이2004지2006년우복단대학부속인과의원내분비문진취진적한족단순성비반화초중인동청소년분별작위비반조화초중조;선택상해시모중학정상체중한족학생작위정상대조조.분별측량신고화체중,계산BMI.측정혈청공복포도당(FPG)、공복이도소(FIns)、삼선감유(TG)화총담고순(TC)수평.계산이도소저항지수(HOMA-IR)화이도소민감지수(QUICKI).추제외주혈기인조DNA,채용Taqman-MGB탐침기술검측FTO기인SNP rs9939609화rs1421085다태성,분석불동기인형여대사지표화BMI적상관성.결과비반조납입236례,초중조납입239례,정상대조조납입241명.①비반+초중조적BMI、FPG、FIns、TG화 HOMA-IR현저고우정상대조조;②비반、초중화정상대조조rs9939609분형성공솔분별위94.9%(224/236례)、97.9(234/239례)화95.9%(231/241명),rs1421085분형성공솔분별위92.8%(219/236례)、97.1%(232/239례)화95.4%(230/241명).rs9939609 AA기인형빈솔:비반조위2.7%,초중조위0.4%,정상대조조위1.7%,비반+초중조A등위기인빈솔현저고우정상대조조(OR=1.437,P=0.048);rs1421085 CC기인형빈솔:비반조위2.7%,초중조위0.9%,정상대조조위1.7%,비반+초중조C등위기인빈솔고우정상대조조,단차이무통계학의의(OR=1.388,P=0.076 0);③rs1421085 TC +CC기인형화rs9939609 TA +AA 기인형인동청소년적BMI현저고우TT기인형(rs9939609:P=0.000 3;rs1421085:P=0.000 5);rs1421085 TC +CC기인형화rs9939609 TA +AA 기인형여FPG、FIns、TG、TC、HOMA-IR、QUICKI무현저상관성.결론 FTO기인SNP rs9939609화rs1421085다태성여중국한족인동청소년비반화(혹)초중존재상관성.A등위기인빈솔원저우구주인군,대BMI적작용효과여구주인군상사,단대대사지표영향존재현저차이.
Objective To investigate the role of the FTO gene rs9939609, rs1421085 polymorphism on obesity and relative trials in Chinese Han children and adolescents.Methods Obese/overweights children and adolescents and normal weight children as control aged 6-18 years old were enrolled. Body height and weight were measured and body mass index (BMI)was calculated. Serum fasting plasm glucose ( FPG) , fasting insulin ( FIns) , triglycerid (TG) and cholesterol (TC) were measured. HOMA-IR and QUICKI were calculated. Genomic DNA was extracted from peripheral blood, Taqman-MGB probe was used to detect the FTO rs9939609, rs1421085 polymorphism. Obesity was evaluated by using IOTF BMI standard. Results Obesity group, overweight group and normal control group included 236,239 and 241 children, respectively. ①The levels of FPG,FIns, TG and HOMA-IR were significantly higher in obesity/overweight group than that in normal control group.②The successful rates of rs9939609 typing in obesity group, overweight group and normal control group were 94.9%(224/236),97.9%(234/239) and 95.9%(231/241),respectively.The successful rates of rs1421085 typing in obesity group, overweight group and normal control group were 92.8%(219/236),97.1%(232/239) and 95.4%(230/241),respectively.The AA genotype frequency of rs9939609 was 2.7% in obesity group and 0.4% in overweight group and there existed significant difference compared with normal control group(genotype frequency 1.7%,P=0.048, OR=1.437). The CC genotype frequency of rs1421085 was 2.7% in obesity group and 0.9 % in overweight group and there existed significant difference compared with normal control group(genotype frequency 1.7%,P=0.076, OR=1.388).③There existed significant difference in BMI between the rs1421085 TC +CC, rs9939609 TA +AA genotypes when compared with their wild TT genotypes(rs9939609: P=0.000 3; rs1421085: P=0.000 5). However, FPG, FIns, TG, TC, HOMA-IR and QUICKI showed no significant difference between the rs1421085 TC +CC, rs9939609 TA +AA genotypes and their wild TT genotypes was not found.Conclusions FTO gene rs9939609 and rs1421085 SNP was firstly reported to be associated with obesity and BMI in Chinese Han children and adolescents, but the significant statistical association among the SNPs and obesity related metabolic parameters.