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• W3135642340 abstract "Inherited cardiomyopathies are a frequent cause of heart failure. A 25-basepair deletion polymorphism MYBPC3 Δ 25bp (rs36212066) in the MYBPC3 gene found exclusively among individuals of South Asian ancestry, has been shown to be associated with an increased risk of cardiomyopathies. The purpose of this meta-analysis was to evaluate the pooled effect size of this association and prevalence of MYBPC3 Δ 25bp in patients with cardiomyopathies of South Asian ancestry. We systematically reviewed studies published through June 2020 from Embase (Ovid), Medline and Web of Science databases. We included case-control studies ( n = 4) that enrolled 1048 patients and 1279 controls in the meta-analysis of association between MYBPC3 Δ 25bp alleles and cardiomyopathy. The effect size quantified as pooled odds ratio (OR) suggests 3.4-fold excess risk of cardiomyopathy in individuals with MYBPC3 Δ 25bp variant in the dominant genetic model (95% CI =1.66–7.00, p = 0.0009). The pooled prevalence of the MYBPC3 Δ 25bp allele was 2.2% (95% CI =1.3 - 3.1%) in controls reported from eight studies (n = 19347) conducted in the South Asian population. Detailed systematic review protocol was registered with the International Prospective Register of Systematic Reviews (CRD42020197283). In the enrichment analysis the MYBPC3 Δ 25bp deletion allele was significantly over enriched in the South Asian population by 5.12 and 7.88-folds as compared to other global populations in the 1000 Genomes and gnomAD v2.1.1 (controls) datasets, respectively. Our study confirms the association of MYBPC3 Δ 25bp rs36212066 variant with increased risk of cardiomyopathies. The MYBPC3 Δ 25bp deletion allele may be considered as a risk factor for cardiomyopathy susceptibility among the South Asian population. • Meta-analysis reveals association of a 25-basepair deletion polymorphism (rs36212066) in MYBPC3 gene with cardiomyopathies. • The MYBPC3 Δ 25bp deletion allele is associated with increased risk of cardiomyopathies among the South Asian population. • The MYBPC3 Δ 25bp deletion variant was significantly enriched in South Asians, and rare or absent in other global populations." @default.
• W3135642340 created "2021-03-15" @default.
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• W3135642340 date "2021-06-01" @default.
• W3135642340 modified "2023-09-26" @default.
• W3135642340 title "Association of South Asian-specific MYBPC3Δ deletion polymorphism and cardiomyopathy: A systematic review and meta-analysis" @default.
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• W3135642340 doi "https://doi.org/10.1016/j.mgene.2021.100883" @default.
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