DNA polymorphism in the uncoupling protein (UCP) gene and human body fat.
DNA polymorphism in the uncoupling protein (UCP) gene and human body fat.
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发表时间：
1994-08
期刊：
影响因子：
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通讯作者：
J. Oppert;M. Vohl;M. Chagnon;F. Dionne;A. Cassard‐Doulcier;D. Ricquier;L. Pérusse;C. Bouchard
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文献类型：
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作者：
J. Oppert;M. Vohl;M. Chagnon;F. Dionne;A. Cassard‐Doulcier;D. Ricquier;L. Pérusse;C. Bouchard
本研究的目的是鉴定UCP基因的DNA序列变异，并探讨其与某些肥胖表型的关系。本研究进行了两项研究：(1)无血缘关系受试者的关联研究；(2)兄弟姐妹的兄弟姐妹连锁分析研究。研究对象是来自quacimbec家庭研究的261名个体（来自64个家庭的123名父母和138名子女）。测量了以下数据：1978-81年和12年后分别测量了体重指数、体脂百分比（通过静水压称重测量）和皮下脂肪（通过6个皮肤皱襞的总和估计）。静息代谢率（RMR）仅在1989- 1993年测量。采用Southern印迹技术和人类UCP基因组探针进行遗传分析。(1)发现BcII限制性内切片段长度多态性，等位基因长度分别为8.3和4.5 kb，频率分别为0.28和0.72。(2) 1989- 1993年数据的横断面分析显示，在亲代无亲缘关系的成年人中，UCP基因型之间的体脂和RMR没有差异。在12年期间，UCP基因型之间的体脂绝对变化没有显著差异。然而，在12年期间，与体脂百分比高于或低于中位数的低增重群体相比，高增重群体中8.3 kb等位基因的频率更高（P < 0.05）。(3)未发现任何肥胖表型与UCP BcII标志物之间存在关联的证据。首次报道了人类UCP基因存在DNA多态性。尽管在魁北克家庭研究的队列中，没有发现UCP BcII基因标记与体脂之间有显著的关联和联系，但在体脂增加较多的个体中发现8.3 kb等位基因的频率更高。
The objective of this study was to identify DNA sequence variation in the UCP gene and to investigate its relationship with some obesity phenotypes. Two studies were carried out: (1) association study in unrelated subjects, and (2) sib-pair linkage analysis study in brothers and sisters. The subjects were 261 individuals from the Québec Family Study (123 parents and 138 offsprings from 64 families). The following were measured: Body mass index, percent body fat (measured by hydrostatic weighing), and subcutaneous fat (estimated by the sum of 6 skinfolds) were measured in 1978-81 and again 12 years later. Resting metabolic rate (RMR) was measured only in 1989-93. Genetic analyses were performed using Southern blotting technique and a human UCP genomic probe. (1) A BcII restriction fragment length polymorphism was identified with two alleles of 8.3 and 4.5 kb in length, and respective frequencies of 0.28 and 0.72. (2) In unrelated adults from the parental generation, a cross-sectional analysis of the 1989-93 data showed no difference in body fat and RMR between the UCP genotypes. No significant difference for the absolute changes in body fat over the 12-year period among the UCP genotypes was observed. However, a higher frequency (P < 0.05) of the 8.3-kb allele was found in high gainers compared to low gainers (i.e., above and below the median value) for percent body fat over the 12-year period. (3) No evidence of linkage between any of the obesity phenotypes and the UCP BcII marker was found. For the first time, the presence of DNA polymorphism in the human UCP gene is reported. Although, no significant association and linkage were found between the UCP BcII gene marker and body fat in the cohort of the Quebec Family Study, a higher frequency of the 8.3-kb allele was found in individuals who gained more body fat over time.