解偶联蛋白2启动子-866G／A多态性与中国北方儿童肥胖病相关性研究

目的：研究解偶联蛋白2（UCP2）基因启动子-866G/A单核苷酸多态性与中国北方儿童肥胖病遗传发病机制的相关性。方法病例组选取2010年1～9月于北京儿童医院内分泌科就诊且无血缘关系的儿童肥胖病患者220例。对照组选自无血缘关系的成年健康献血员220例。用血液基因组DNA提取试剂盒提取外周血基因组DNA，UCP2基因启动子-866G/A单核苷酸多态性分析采用PCR-RFLP法，并选取部分标本进行测序分析。结果（1）UCP2基因启动子-866A等位基因在中国肥胖病儿童中的频率与正常对照组相近，无统计学差异（44．8％ vs．46．4％，χ2＝0.224，P＝0.685）。（2）GG、GA和AA基因型在患者频率分布为34．5％、41．4％及24．1％；在对照组中的分布为27．3％、52．7％及20.0％，三者在患者与对照中的频率分布无显著性差异（ P＞0.05）。包含等位基因A的基因型AA和GA基因型频率之和在对照组中的频率增加，但无统计学差异（65．5％vs．72.7％，P＝0.122）。按性别进行分层分析，肥胖病男童与对照组的基因型频率分布尚无显著性差异（ P＝0.05），在女童中亦无显著性差异（ P＝0.512）。结论 UCP2基因启动子-866 G/A单核苷酸多态性与中国儿童肥胖病遗传发病机制未见显著相关性。 UCP2基因启动子-866 G/A多态性与肥胖病的遗传发病机制的相关性存在一定的人种差异。

Relationships between-866G/A variation in the promoter region of uncoupling protein-2 gene and obesity in Chinese children

Objective To investigate the association of the polymorphism of -866 G/A variant in the promoter region of uncoupling protein-2 gene with obesity in Chinese children .Design：Cross-sectional and case control study .Methods 220 Chinese children with obesity were selected as research subjects ,ages ranging from 3 to 17 years old , all meeting with the diagnosis of 2004 China school-age children and adolescents′BMI overweight obesity classification criteria .220 healthy adult blood donors were selected as normal controls .TIANamp Blood DNA kit method technique were used to extract genomic DNA from peripheral white blood cells , after which PCR-RFLP techniques were used to determine UCP 2-866 G/A polymorphism in patients and controls .Then the relationship between UCP2 gene polymorphism and obesity in Chinese children were studied .Results （ 1 ） The frequency of UCP2-866A allele was not significantly increased in obesity children （44.8%vs.healthy control subjects 46.4%,χ2=0.224,P＆gt;0.05）.（2） The distributions of UCP2-866G/A genotypes in patients and controls had no significant differences（Comparing the AA＋GA and GG,P=0.122）.（3）There was no significant difference of the distribution of UCP2-866 G/A polymorphism between Chinese and Japanese but significantly different with white Europeans or Caucasians.Conclusion The polymorphism of -866G/A variant in the promoter region of uncoupling protein-2 gene is not associated with obesity of Chinese children .