The KCNQ1 cluster is regulated through an ICR located in the promoter region of KCNQ1OT1, a paternally expressed non-coding antisense RNA. Hypermethylation of the maternal allele results in monoallelic activity of the neighboring maternally expressed protein coding genes. The two T2D associated markers at this locus rs231362 and rs2237892 are both located within the maternally expressed KCNQ1, consistent with the risk associations. Rs231362 also residing within the KCNQ1OT1 antisense transcript (Figure 2).
