# Association of Gene Polymorphism at Atrial Fibrillation in the Kazakh Population: Case—Control Study

**Authors:** Dana Taizhanova, Nazira Bazarova, Akerke Kalimbetova, Roza Bodaubay, Elena Zholdybayeva, Chingis Abylkanov

PMC · DOI: 10.3390/genes17010084 · 2026-01-13

## TL;DR

This study explores the link between a specific gene variant and atrial fibrillation in the Kazakh population, finding a non-significant trend.

## Contribution

The study investigates the rs3903239 polymorphism of the PRRX1 gene in Kazakh individuals for its potential association with atrial fibrillation.

## Key findings

- The rare G allele frequency was higher in atrial fibrillation patients compared to healthy controls.
- The observed difference did not reach statistical significance.
- Genotype frequencies were in Hardy–Weinberg equilibrium across groups.

## Abstract

Background/Objectives. Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia and represents a major public health problem. Genetic factors contribute to AF susceptibility, including variants associated with atrial remodeling. Methods. This case–control study investigated the rs3903239 polymorphism of the PRRX1 gene in a Kazakh population. The main group included patients with AF (n = 75), the control group consisted of 2 subgroups: subgroup 1 (control group 1) included conditionally healthy patients (n = 73), subgroup 2 (control group 2) consisted of patients with arterial hypertension (AH) and coronary heart disease (CHD) without diagnosed AF at the time of inclusion in the study (n = 50). Genotype and allele frequencies were compared between patients with AF and two control groups. The frequency of the rs3903239 polymorphism genotypes of the PRRX1 gene in the main group and in the control groups was in the Hardy–Weinberg equilibrium. Results. The frequency of the rare G allele (AG + GG genotypes) was higher in patients with AF compared with conditionally healthy controls; however, this difference did not reach statistical significance (OR 1.357; 95% CI 0.845–2.178). Conclusions. The observed differences represent a non-significant trend and do not demonstrate a statistically confirmed association between the rs3903239 polymorphism of the PRRX1 gene and AF in the Kazakh population.

## Linked entities

- **Genes:** PRRX1 (paired related homeobox 1) [NCBI Gene 5396]
- **Diseases:** atrial fibrillation (MONDO:0004981), coronary heart disease (MONDO:0005010)

## Full-text entities

- **Genes:** PRRX1 (paired related homeobox 1) [NCBI Gene 5396] {aka AGOTC, PHOX1, PMX1, PRX-1, PRX1}
- **Diseases:** AH (MESH:D000081029), cardiac arrhythmia (MESH:D001145), AF (MESH:D001281), CHD (MESH:D003327)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs3903239

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Source: https://tomesphere.com/paper/PMC12841343