Related Experiment Video
Updated: May 20, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association of leptin gene polymorphisms (rs791620 and rs7799039) with rheumatoid arthritis susceptibility and
Fatma Azzahraa Hisham1, Samar Tharwat2,3,4, Dalia Kamal Nassar5
1Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Background And Aims:
Leptin, an adipokine with immunomodulatory properties, has been implicated in rheumatoid arthritis (RA) pathogenesis. The aim of this study was to investigate the association of leptin (LEP) gene polymorphisms (rs791620 and rs7799039) with RA susceptibility, clinical characteristics, laboratory data, and musculoskeletal ultrasound (MSUS) findings in Egyptian patients.
Methods:
This case-control study included 101 RA patients and 101 age- and sex-matched healthy controls. Genotyping of LEP rs791620 and rs7799039 polymorphisms was performed using TaqMan SNP assays. All patients underwent clinical evaluation, laboratory testing (RF, anti-CCP, ESR, CRP), disease activity assessment (DAS28-ESR/CRP), and MSUS.
Results:
Genotype and allele frequencies of rs791620 and rs7799039 did not differ significantly between RA patients and controls (all p > 0.05). However, within the RA cohort, the rs791620 CA genotype was associated with male sex (p ≤ 0.001) and subcutaneous nodules (p = 0.009). The rs7799039 AA genotype was associated with higher patient global assessment (p = 0.031), prolonged morning stiffness (p = 0.020), and increased frequency of joint erosions (p < 0.05). There were no significant associations with inflammatory markers or disease activity scores. Multivariable regression analysis identified CRP (p < 0.001) and RF positivity (p = 0.029) as independent predictors of higher DAS28-ESR, while LEP polymorphisms were not.
Conclusions:
In the current cohort, no significant association was detected between LEP rs791620 or rs7799039 polymorphisms and RA susceptibility. However, these variants may influence specific phenotypic characteristics, such as subcutaneous nodules and joint erosions. Consequently, additional investigations involving larger cohorts are recommended. Highlights What is known about this research topic? • Leptin is a pro-inflammatory adipokine that involved in the pathogenesis of rheumatoid arthritis (RA) through its immunomodulatory effects on both T-cells and macrophages. • Genetic polymorphisms in the leptin (LEP) gene have been linked to various autoimmune diseases, however, their role in RA susceptibility is still largely unexplored. What this study adds and its future implications: New findings: • LEP rs791620 and rs7799039 polymorphisms were not associated with RA susceptibility. • LEP rs791620 CA genotype was correlated with male sex and subcutaneous nodules, while rs7799039 AA genotype was linked to higher patient global assessment, prolonged morning stiffness, and increased joint erosions.
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
The JAK-STAT Signaling Pathway
Single Nucleotide Polymorphisms-SNPs
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
Pharmacogenomics: Identification of New Drug Targets