Genotype Frequency Analysis of Rs2025804 Lepr Genetic Variant in Iranian Population Publisher



Najafi G¹ ; Niknam N^{2, 3} ; Afshari M⁵ ; Hasanzad M⁴ Show Affiliations
Source: Journal of Diabetes and Metabolic Disorders Published:2025

Abstract

Objectives: The LEPR 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 LEPR 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 LEPR gene among healthy Iranians for the first time. Routine LEPR 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. © The Author(s), under exclusive licence to Tehran University of Medical Sciences 2024.