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ANKK1 基因在伴有或不伴有暴食症的墨西哥裔肥胖个体中的完整序列。

Complete sequence of the ANKK1 gene in Mexican-Mestizo individuals with obesity, with or without binge eating disorder.

机构信息

Unidad de Investigación en Obesidad, Facultad de Medicina, Universidad Nacional Autónoma de México, Ciudad de México, Mexico.

Unidad de Investigación en Obesidad, Facultad de Medicina, Universidad Nacional Autónoma de México, Ciudad de México, Mexico; Clínica de Obesidad, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Ciudad de México, Mexico.

出版信息

Eur Psychiatry. 2018 Oct;54:59-64. doi: 10.1016/j.eurpsy.2018.07.010. Epub 2018 Aug 16.

Abstract

BACKGROUND

The aim of this study was to investigate if Mexican-Mestizo individuals with obesity, with or without binge eating disorder (BED), exhibited mutations or other type of genetic variants in the sequence of ANKK1.

SUBJECTS AND METHODS

Fifty unrelated individuals (21-53 years of age) with obesity, of Mexican-Mestizo ethnic origin were included; 25 of them had BED and 25 presented obesity without BED. The diagnosis of BED was based on criteria proposed in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). Besides, we also analyzed 100 individuals with normal body mass index. DNA from blood leukocytes was amplified by the polymerase chain reaction and all exons of ANKK1 were sequenced.

RESULTS

After ANKK1 sequencing we did not find any mutations; however, we observed various polymorphisms. One polymorphism, rs4938013 in exon 2 showed an association with obesity, whilst rs1800497 (also known as Taq1A) in exon 8, showed an association with BED (P = 0.020). Remarkable, for this study, the number of individuals for both polymorphisms for and additive model was sufficient to derive strong statistical power (80%, with a P < 0.05).

CONCLUSIONS

To our knowledge, this constitutes the first report where the complete sequences of ANKK1 has been analyzed in individuals with obesity, with or without BED. No mutations were found; however, one polymorphism was associated with obesity, with or without BED, and another one was associated with BED.

摘要

背景

本研究旨在探讨肥胖症患者(无论是否合并暴食症)中墨西哥裔个体的 ANKK1 序列是否存在突变或其他类型的遗传变异。

方法

本研究纳入了 50 名无亲缘关系的(21-53 岁)墨西哥裔肥胖个体,其中 25 名患有暴食症,25 名无暴食症。暴食症的诊断基于《精神障碍诊断与统计手册(第五版)》中提出的标准。此外,我们还分析了 100 名体重指数正常的个体。采用聚合酶链反应扩增白细胞 DNA,并对 ANKK1 的所有外显子进行测序。

结果

ANKK1 测序后,我们未发现任何突变,但观察到了多种多态性。第 2 外显子中的 rs4938013 多态性与肥胖有关,而第 8 外显子中的 rs1800497(又称 Taq1A)与暴食症有关(P=0.020)。值得注意的是,对于本研究,这两种多态性的个体数量足以在加性模型下产生足够的统计效力(80%,P<0.05)。

结论

据我们所知,这是首次在肥胖症患者(无论是否合并暴食症)中分析 ANKK1 完整序列的研究。未发现突变,但有一种多态性与肥胖症(无论是否合并暴食症)有关,另一种多态性与暴食症有关。

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