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Published on: February 26, 2013
A Higher Polygenic Risk Score Is Associated with a Higher Recurrence Rate of Atrial Fibrillation in Direct Current
Simon Vogel1, Irina Rudaka1,2, Dmitrijs Rots1
1Scientific Laboratory of Molecular Genetics, Rīga Stradiņš University, 16 Dzirciema Str., LV-1007 Rīga, Latvia.
Insights
Genetic factors influence atrial fibrillation (AF) recurrence after direct current cardioversion (DCC). A higher polygenic risk score (PRS) increases AF recurrence odds, while specific variants in PITX2 and SOX5 genes are linked to AF development and recurrence risk.
Area of Science:
- Cardiology
- Genetics
- Pharmacogenomics
Background:
- Atrial fibrillation (AF) recurrence after direct current cardioversion (DCC) presents a significant clinical challenge.
- Factors influencing AF recurrence post-DCC remain largely unknown.
- Genetic predispositions are implicated in AF risk and rhythm control efficacy.
Purpose of the Study:
- To investigate the association between eight single-nucleotide variants (SNVs) and the risk of AF development.
- To examine the association between these SNVs and AF recurrence after DCC.
- To evaluate the utility of a polygenic risk score (PRS) in predicting AF occurrence and recurrence.
Main Methods:
- Genotyping of eight SNVs in genes including PITX2 and SOX5 using high-resolution melting analysis and Sanger sequencing.
- Recruitment of 259 AF cases and 108 controls for AF occurrence analysis.
- Telephone interviews six months post-DCC to assess AF recurrence, coupled with multivariate regression analyses and PRS calculation.
Main Results:
- The rs2200733 variant in PITX2 was significantly associated with increased AF development risk (OR = 2.31).
- The rs11047543 variant in SOX5, typically protective, correlated with higher AF recurrence risk (OR = 0.223).
- A PRS > 7 was significantly linked to a higher likelihood of AF post-DCC (OR = 4.174).
Conclusions:
- Elevated PRS is associated with increased odds of AF recurrence following DCC.
- Specific genetic variants, notably in PITX2 and SOX5, show significant associations with AF risk and recurrence.
- Further research is warranted to leverage genetic information for predicting DCC success and personalizing AF treatment strategies.
Abstract:
Background and Objectives: Recurrence of atrial fibrillation (AF) within six months after sinus rhythm restoration with direct current cardioversion (DCC) is a significant treatment challenge. Currently, the factors influencing outcome are mostly unknown. Studies have found a link between genetics and the risk of AF and efficacy of rhythm control. The aim of this study was to examine the association between eight single-nucleotide variants (SNVs) and the risk of AF development and recurrence after DCC. Materials and Methods: Regarding the occurrence of AF, 259 AF cases and 108 controls were studied. Genotypes for the eight SNVs located in the genes CAV1, MYH7, SOX5, KCNN3, ZFHX3, KCNJ5 and PITX2 were determined using high-resolution melting analysis and confirmed with Sanger sequencing. Six months after DCC, a telephone interview was conducted to determine whether AF had recurred. A polygenic risk score (PRS) was calculated as the unweighted sum of risk alleles. Multivariate regression analyses were performed to assess SNV and PRS association with AF occurrence and recurrence after DCC. Results: The risk allele of rs2200733 (PITX2) was significantly associated with the development of AF (p = 0.012, OR = 2.31, 95% CI = 1.206-4.423). AF recurred in 60% of patients and the allele generally associated with a decreased risk of AF of rs11047543 (SOX5) was associated with a greater risk of AF recurrence (p = 0.014, OR = 0.223, 95% CI = 0.067-0.738). A PRS of greater than 7 was significantly associated (p = 0.008) with a higher likelihood of developing AF after DCC (OR = 4.174, 95% CI = 1.454-11.980). Conclusions: A higher PRS is associated with increased odds of AF recurrence after treatment with DCC. PITX2 (rs2200733) is significantly associated with an increased risk of AF. The protective allele of rs11047543 (SOX5) is associated with a greater risk of AF recurrence. Further studies are needed to predict the success of rhythm control and guide patient selection towards the most efficacious treatment.
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