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脂肪酸结合蛋白 2 中的 Ala54Thr 多态性:卡斯蒂利亚-莱昂多中心研究中的等位基因频率及其对心血管危险因素的影响。

Polymorphism Ala54Thr of fatty acid-binding protein 2: Allelic frequencies and influence on cardiovascular risk factors in a multicenter study of Castilla y Leon.

机构信息

Institute of Endocrinology and Nutrition, Hospital Rio Hortega, University of Valladolid, Spain.

出版信息

Ann Nutr Metab. 2010;57(3-4):163-8. doi: 10.1159/000321632. Epub 2010 Nov 16.

DOI:10.1159/000321632
PMID:21079390
Abstract

BACKGROUND

A transition of guanin to alanin at codon 54 of the fatty acid-binding protein 2 gene (FABP2) results in an amino acid substitution (Ala54 to Thr54). This polymorphism was associated with some cardiovascular risk factors.

OBJECTIVE

The aim of our study was to investigate the influence of the Thr54 polymorphism in the FABP2 gene on obesity anthropometric parameters and cardiovascular risk factors in the fasted state in obese subjects and the allelic distribution of this polymorphism in a geographic area of Spain.

DESIGN

A population of 264 obese subjects was analyzed in a cross-sectional study from all health centers of Castilla y Leon (Spain). A nutritional and biochemical evaluation was performed. The statistical analysis was performed for the combined Ala54/Thr54 and Thr54/Thr54 genotype as a dominant model.

RESULTS

The mean age was 41.1 ± 13.1 years and the mean BMI 36.5 ± 5.9, with 94 males (35.6%) and 170 females (74.4%). One hundred and fifty-three subjects (58%) had the genotype Ala54/Ala54 (wild-type group) and 111 (42%) participants had the genotype Ala54/Thr54 (n = 92, 34.8%) or Thr54/Thr54 (n = 19, 7.2%) (mutant-type group). The health area of Valladolid had a lower frequency of wild-type genotype and Ala54 allelic frequency than all the other health areas of Castilla y Leon. C-reactive protein was higher in the mutant-type than the wild-type group (3.4 ± 5.6 vs. 7.9 ± 10.4 mg/dl; p < 0.05).

CONCLUSION

The finding of this study is the association of the Thr54/Ala54 and Thr54/Thr54 FABP2 phenotypes with higher levels of C-reactive protein without relation to insulin resistance. Frequencies of this polymorphism are different among health areas of Castilla y Leon.

摘要

背景

脂肪酸结合蛋白 2 基因(FABP2)第 54 位密码子由鸟嘌呤向丙氨酸的转换导致了氨基酸的取代(Ala54 到 Thr54)。这种多态性与一些心血管危险因素有关。

目的

本研究旨在探讨 FABP2 基因 Thr54 多态性对肥胖患者空腹状态下肥胖人体重参数和心血管危险因素的影响,以及该多态性在西班牙某一地理区域的等位基因分布。

设计

对来自西班牙卡斯蒂利亚-莱昂(Castilla y Leon)所有健康中心的 264 名肥胖患者进行了横断面研究。进行了营养和生化评估。统计分析采用 Ala54/Thr54 和 Thr54/Thr54 基因型的显性模型进行。

结果

平均年龄为 41.1 ± 13.1 岁,平均 BMI 为 36.5 ± 5.9,其中男性 94 名(35.6%),女性 170 名(74.4%)。153 名受试者(58%)基因型为 Ala54/Ala54(野生型组),111 名受试者(42%)基因型为 Ala54/Thr54(n=92,34.8%)或 Thr54/Thr54(n=19,7.2%)(突变型组)。与莱昂省的其他所有健康区相比,巴利亚多利德健康区的野生型基因型和 Ala54 等位基因频率较低。突变型组的 C 反应蛋白高于野生型组(3.4 ± 5.6 vs. 7.9 ± 10.4 mg/dl;p < 0.05)。

结论

本研究发现,FABP2 基因 Thr54/Ala54 和 Thr54/Thr54 表型与 C 反应蛋白水平升高有关,但与胰岛素抵抗无关。这种多态性在莱昂省的不同健康区的频率不同。

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