Genotype frequency analysis of rs2025804 LEPR genetic variant in Iranian population

Ghazal Najafi; Negar Niknam; Mahdi Afshari; Mandana Hasanzad

doi:10.1007/s40200-024-01534-z

Genotype frequency analysis of rs2025804 LEPR genetic variant in Iranian population

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

Authors

Ghazal Najafi¹, Negar Niknam^{2

3}, Mahdi Afshari⁴, Mandana Hasanzad⁵

Affiliations

¹ Medical Genomics Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, 1916893813 Iran.
² Department of Pharmacoeconomics and Pharmaceutical Administration, Faculty of Pharmacy, Tehran University of Medical Sciences, Tehran, Iran.
³ LifeandMe, Inc., Tehran, Iran.
⁴ Department of Community Medicine, Zabol University of Medical Sciences, Zabol, Iran.
⁵ Personalized Medicine Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, No. 10- Jalal -e-Ale-Ahmad Street, Chamran Highway, Tehran, 1411713119 Iran.

PMID: 39735171
PMCID: PMC11680522 (available on 2025-12-28)
DOI: 10.1007/s40200-024-01534-z

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.

Keywords: Healthy population; Leptin receptor gene; Polymorphism; rs2025804.

© The Author(s), under exclusive licence to Tehran University of Medical Sciences 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.