4q25 Atrial fibrillation risk (886) (Add-on)

Overview:

This test identifies individuals with an increased risk of atrial fibrillation (AF) and stroke. The 4q25 gene locus is on chromosome 4, adjacent to the PITX2 gene, which is a transcription factor required for cardiac development and left-right asymmetry of the heart, and for normal sinus node formation. Two 4q25 variants rs2200733 and rs10033464, found in about 20% of the population, have been associated with a significant 1.4-1.5 fold increased risk of atrial fibrillation (4). This association has been observed in multiple studies, and is especially apparent in subjects over age 60 years. Reference: Gudbjartsson DF, Arnar DO, Helgadottir A, et al. Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature. 2007;448:353-357.

• rs2200733
  • Normal risk of atrial fibrillation (AF) and stroke
    • Genotype C/C
  • 1.5-fold increased risk of atrial fibrillation (AF) and stroke
    • Genotype T/C
    • Genotype T/T
• rs10033464
  • Normal risk of atrial fibrillation (AF) and stroke
    • Genotype G/G
  • 1.4-fold increased risk of atrial fibrillation (AF) and stroke
    • Genotype T/G
    • Genotype T/T

Methodology - Real-time polymerase chain reaction (PCR)