de Luis D A, Ballesteros M, Ruiz E, Muñoz C, Penacho A, Iglesias P, López Guzmán A, Maldonado A, Cordero M, San Martín L, Puigdevall V, Romero E, González Sagrado M, Izaola O, Conde R
Institute of Endocrinology and Nutrition, Medicine School, University of Valladolid, Spain.
Nutr Hosp. 2010 Mar-Apr;25(2):299-303.
The genetic variant (Trp64Arg) is a missense mutation located within the beta3 adrenoreceptor (Beta3AR). The aim of our study was to investigate the influence of Trp64Arg polymorphism in the Beta3AR gene on insulin resistance in obese patients and the allelic distribution of this polymorphismin a geographic area of Spain.
A population of 264 obese patients was analyzed. A bioimpedance, blood pressure, an assessment of nutritional intake, and biochemical parameters were measured. The beta 3 adrenoreceptor gene polymorphism(Trp64Arg) was genotyped.
Two hundred and twenty six patients (77 males/149 females) (85.6%) had the genotype Trp64/Trp64 (wild type group) with and average age of 41.12 +/- 13.1 years and 38 patients (16 males/22 females) Trp64/Arg64 (14.4%) (mutant type group) with an average age of 40.5 +/- 12.7 years. High frequencies of Arg64 allele were observed in Salamanca and Valladolid. In the mutant type group, HOMA (3.75 +/- 2.77 vs 5.27 +/- 5.4; p < 0.05) was higher than wild type group.
The finding of this study is the association of the Trp64/Arg64 Beta3AR with higher levels of HOMA. Frequencies of this polymorphism are different among geographic areas.
基因变异（Trp64Arg）是位于β3肾上腺素能受体（Beta3AR）内的错义突变。本研究的目的是调查Beta3AR基因中Trp64Arg多态性对肥胖患者胰岛素抵抗的影响以及该多态性在西班牙某地理区域的等位基因分布。
对264名肥胖患者进行了分析。测量了生物电阻抗、血压、营养摄入评估和生化参数。对β3肾上腺素能受体基因多态性（Trp64Arg）进行基因分型。
226名患者（77名男性/149名女性）（85.6%）具有Trp64/Trp64基因型（野生型组），平均年龄为41.12±13.1岁，38名患者（16名男性/22名女性）具有Trp64/Arg64基因型（14.4%）（突变型组），平均年龄为40.5±12.7岁。在萨拉曼卡和巴利亚多利德观察到Arg64等位基因的高频率。在突变型组中，HOMA（3.75±2.77对5.27±5.4；p<0.05）高于野生型组。
本研究的发现是Trp64/Arg64 Beta3AR与较高水平的HOMA相关。这种多态性的频率在不同地理区域有所不同。
