rs662702
This is a downstream gene variant variant in the ELP4 gene.
▶ClinVar annotation
11p partial monosomy syndrome (WAGR); Aniridia 1 (AN1); Anophthalmia-microphthalmia syndrome; Autosomal dominant keratitis; Congenital aniridia (AN); Foveal hypoplasia 1; Irido-corneo-trabecular dysgenesis (ASGD5); carboxymethyl-dextran-A2-gadolinium-DOTA
View on ClinVar →▶Research that mentions this SNP (1)
▶A microRNA‐328 binding site inPAX6is associated with centrotemporal spikes of rolandic epilepsyAssociationN=1,186Naim Panjwani et al.(2016)· Annals of Clinical and Translational Neurology
A case-control association study identified rs662702 in the PAX6 3' UTR as a significant risk variant for centrotemporal spikes (CTS) in rolandic epilepsy. The T allele at rs662702 increased risk with an additive OR of 1.97 (P = 1.53×10⁻³) in the primary analysis and TT homozygosity conferred a 12.29-fold increased risk (P = 2.6×10⁻⁴), with consistent effect sizes across North American and European populations. The variant disrupts a microRNA-328 binding site, increasing PAX6 expression and presenting a novel regulatory mechanism for epilepsy susceptibility.
About ELP4
This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
View all ELP4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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