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伊朗人群中rs2025804基因变异的基因型频率分析。

Genotype frequency analysis of rs2025804 genetic variant in Iranian population.

作者信息

Najafi Ghazal, Niknam Negar, Afshari Mahdi, Hasanzad Mandana

机构信息

Medical Genomics Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, 1916893813 Iran.

Department of Pharmacoeconomics and Pharmaceutical Administration, Faculty of Pharmacy, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

J Diabetes Metab Disord. 2024 Dec 28;24(1):29. doi: 10.1007/s40200-024-01534-z. eCollection 2025 Jun.

Abstract

OBJECTIVES

The gene is a key focus in obesity research, with studies linking its polymorphisms to various diseases like polycystic ovarian syndrome and energy intake disorders. This study aims to investigate the prevalence of the rs2025804 variant within LEPR and its distribution among healthy individuals across diverse ethnic groups in Iran.

METHODS

The frequency of the rs2025804 genotype in the gene was analyzed in 1142 healthy adults representing different ethnicities in Iran. Saliva samples were randomly collected, and genomic DNA was extracted using a standard kit. Genotyping was performed using the Illumina Infinium Global Screening Array-24 BeadChip. Genotype and allele frequencies were calculated using SPSS software version 22, with a 95% confidence level.

RESULTS

Among the 1142 individuals surveyed across 29 provinces, 683 (59.81%) had genotype AA, 408 (35.73%) had genotype AG, and 51 (4.47%) had genotype GG. The allele frequencies for A and G were found to be 1774 (77.67%) and 510 (22.32%), respectively. Our findings show a unique allele distribution compared to other ethnic groups, with genotype AA being the most prevalent (59.81%), followed by AG (35.73%) and GG (4.47%). Allele frequencies are A (77.67%) and G (22.32%).

CONCLUSIONS

This study documents the genotype and allele frequencies of rs2025804 in the gene among healthy Iranians for the first time. Routine genotyping could potentially serve as a screening tool for obesity-related disorders, given these results. This enhances our understanding of genetic diversity and holds promise for targeted healthcare interventions.

摘要

目的

该基因是肥胖研究的关键焦点,有研究将其多态性与多囊卵巢综合征和能量摄入紊乱等多种疾病联系起来。本研究旨在调查伊朗不同种族健康个体中LEPR基因rs2025804变体的流行情况及其分布。

方法

对1142名代表伊朗不同种族的健康成年人的LEPR基因rs2025804基因型频率进行了分析。随机收集唾液样本,使用标准试剂盒提取基因组DNA。使用Illumina Infinium Global Screening Array-24 BeadChip进行基因分型。使用SPSS 22软件计算基因型和等位基因频率,置信水平为95%。

结果

在29个省份调查的1142名个体中,683人(59.81%)为AA基因型,408人(35.73%)为AG基因型,51人(4.47%)为GG基因型。A和G的等位基因频率分别为1774(77.67%)和510(22.32%)。我们的研究结果显示,与其他种族群体相比,等位基因分布独特,AA基因型最为普遍(59.81%),其次是AG(35.73%)和GG(4.47%)。等位基因频率为A(77.67%)和G(22.32%)。

结论

本研究首次记录了健康伊朗人LEPR基因中rs2025804的基因型和等位基因频率。鉴于这些结果,常规的LEPR基因分型可能作为肥胖相关疾病的筛查工具。这增强了我们对遗传多样性的理解,并为有针对性的医疗干预带来了希望。

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Genotype frequency analysis of rs2025804 genetic variant in Iranian population.伊朗人群中rs2025804基因变异的基因型频率分析。
J Diabetes Metab Disord. 2024 Dec 28;24(1):29. doi: 10.1007/s40200-024-01534-z. eCollection 2025 Jun.

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