SREBF2 and Schnyder corneal dystrophy: In particular, the missense variant rs2228314 (Gly595Ala substitution) in the SREBF2 gene, encoding a transcription factor that regulates the expressions of the genes involved in cholesterol biosynthesis [64], has been associated with the pathogenesis of coronary atherosclerosis and an increased risk of SCD, especially in middle-aged males [29].