SNP rs3737883 in PPFIA4 Gene Associated with Atrial Fibrillation Risk: A Case–Control Study in a Chinese Population

Atrial fibrillation (AF), the most prevalent cardiac arrhythmia, significantly elevates the risk of stroke and heart failure. The etiology of AF is complex and multifactorial, involving genetic predisposition, environmental risk factors, and their potential interactions. A previous genome-wide association study (GWAS) of AF in a Korean population has identified an association between the rs3737883 single-nucleotide polymorphism (SNP) in the PPFIA4 gene and an increased risk of AF. However, the association needs to be replicated in other populations. In this paper, we conducted a case–control association study including 724 AF cases and 1475 controls, and successfully validated the association between SNP rs3737883 with the risk of AF in a Chinese population (OR = 1.33 with an adjusted p was 2.83 × 10−11). Given that the PPFIA4 variant has been reported to influence high-sensitivity cardiac troponin T (hs-cTnT) levels, we further investigated the relationship between rs3737883 and hs-cTnT in 48 AF patients. Notably, we observed that the risk allele was also associated with elevated hs-cTnT levels. Our findings provide further genetic substantiation for the association of rs3737883 with AF. These results suggest a potential association between the PPFIA4 gene variant, hs-cTnT levels, and AF risk, although further studies are needed to clarify the underlying mechanisms.