Recently, genome wide methylation analysis using Illumina Infinium, with which 485,000 CpGs of promoter regions can be analyzed, has shown that the preputial tissue of patients with hypospadias did not show any significant difference in the methylation level in SRD5A2 from samples taken from healthy males, whereas SCARB1 and MYBPH hypermethylation was detected in the samples from the patients (Choudhry et al. 2012). Here, SRD5A2 is linked to hypospadias.