الملخص
Background: Genetic determinants of dilated cardiomyopathy (DCM) in Middle Eastern populations remain underexplored despite the unique genetic architecture of these populations shaped by distinct demographic histories and high rates of consanguinity. The aim of this study is to investigate genetic loci associated with dilated cardiomyopathy risk in Saudi Arabian patients through genome-wide association analysis.
Methods: We conducted a case-control genome-wide association study of 3,245 DCM cases and 5,780 controls from Saudi Arabia. Cases were recruited from three major cardiac centers and diagnosed according to European Society of Cardiology criteria. Controls were matched for age, sex, and geographical region. Genome-wide genotyping was performed using the Illumina Global Screening Array.
Results: We identified 12 loci reaching genome-wide significance (P < 5 × 10^-8) for association with DCM, including 7 loci described by the authors as novel; their novelty requires verification against prior studies. These candidate loci included genes with biological functions relevant to cardiac physiology, including CDKN1A (cell cycle regulation), TGFB1 (cardiac fibrosis), and CSMD1 (complement regulation).
Conclusion: The reported genetic associations require independent replication. Claims of novelty and population specificity require locus-level comparison with prior studies and explicit reference-population definitions. Clinical utility requires separate evaluation.
الكلمات المفتاحية
- dilated cardiomyopathy
- genome-wide association study
- Saudi Arabia
- genetic risk factors
- polygenic risk score
- TGF-β signaling
إقرارات
- الموافقة الأخلاقية
- NA
- الموافقة على المشاركة
- NA
- الموافقة على النشر
- NA
- التمويل
- NA
- تضارب المصالح
- NA
- مساهمات المؤلفين
- NA
- توافر البيانات
- NA
- التسجيل
- NA
- الشكر والتقدير
- NA
التعليقات
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