Murugan Manoranjani, Ravikumar Sambandam, Ganesh Irisappan, Vetriselvan Yogesh, Priyadharshini Arunagiri, Ballambattu Vishnu Bhat
Department of Medical Biotechnology, Aarupadai Veedu Medical College and Hospital, Vinayaka Mission's Research Foundation (Deemed to be University), Kirumampakkam, Puducherry 607403, India.
Department of Biochemistry, Aarupadai Veedu Medical College and Hospital, Vinayaka Mission's Research Foundation (Deemed to be University), Kirumampakkam, Puducherry 607403, India.
Medicina (Kaunas). 2025 May 15;61(5):900. doi: 10.3390/medicina61050900.
: Atrial fibrillation (AF) is the most common cardiac arrhythmia globally, leading to a high risk of stroke and heart failure. Genetic factors are known to play an essential role in AF risk. However, studies on genetic predisposition in asymptomatic young populations remain limited. This study aimed to investigate the prevalence of genetic variants in the (rs2200733, rs10033464, and rs13143308), (rs883079), (rs3903239), (rs2106261), and (rs7698692) polymorphisms and to assess their correlation with susceptibility to AF in a young adult population in India. : This cross-sectional study included 250 subjects aged 18-29. Detailed lifestyle and family histories were collected for each participant. Genetic variation was determined using a specific TaqMan SNP genotyping assay. Hardy-Weinberg equilibrium (HWE) analysis and chi-square tests were employed to assess genotype frequencies, and statistical associations with lifestyle factors (body mass index, alcohol consumption, and smoking) were evaluated using -tests and descriptive statistics. : Minor allele frequencies were varied across the study population, with notable frequencies in rs2200733 T (16%), rs10033464 T (27%), rs13143308 T (32%), rs883079 T (46%), rs3903239 G (25%), rs2106261 T (26%), and rs7698692 G (14%). HWE analysis confirmed that all SNPs were in equilibrium ( > 0.05). Approximately 15% of individuals carried six or more risk alleles, indicating a significant genetic predisposition to AF despite the absence of clinical symptoms. : This study provides new insights into the genetic predisposition to AF among young adults in India. The high prevalence of risk alleles in asymptomatic young adults highlights the necessity of early genetic screening for AF risk and the role of genetic counseling in preventing cardiac complications.
心房颤动（AF）是全球最常见的心律失常，会导致中风和心力衰竭的高风险。已知遗传因素在房颤风险中起重要作用。然而，关于无症状年轻人群遗传易感性的研究仍然有限。本研究旨在调查ANK2（rs2200733、rs10033464和rs13143308）、ABO（rs883079）、PRDM16（rs3903239）、KCNA5（rs2106261）和GJA1（rs7698692）基因多态性的遗传变异患病率，并评估它们与印度年轻成年人群房颤易感性的相关性。：这项横断面研究包括250名年龄在18至29岁之间的受试者。为每位参与者收集了详细的生活方式和家族史。使用特定的TaqMan SNP基因分型测定法确定基因变异。采用哈迪-温伯格平衡（HWE）分析和卡方检验来评估基因型频率，并使用t检验和描述性统计评估与生活方式因素（体重指数、饮酒和吸烟）的统计关联。：研究人群中次要等位基因频率各不相同，rs2200733 T（16%）、rs10033464 T（27%）、rs13143308 T（32%）、rs883079 T（46%）、rs3903239 G（25%）、rs2106261 T（26%）和rs7698692 G（14%）的频率较为显著。HWE分析证实所有单核苷酸多态性均处于平衡状态（p>0.05）。约15%的个体携带六个或更多风险等位基因，这表明尽管没有临床症状，但仍存在显著的房颤遗传易感性。：本研究为印度年轻成年人房颤的遗传易感性提供了新的见解。无症状年轻成年人中风险等位基因的高患病率凸显了对房颤风险进行早期基因筛查的必要性以及遗传咨询在预防心脏并发症中的作用。
