George [36] and McDonald [37] found that KCNE1 participates in forming K+ channel to regulate potassium current (IKs) by combining with
KCNQ1 and HERG.
[9] Examples include some variants in
KCNQ1 and SCN5A that are causative of suboptimal electrical functioning of the heart (e.g.
The remaining 7 imprinted loci--protein phosphatase 1, regulatory subunit 9A (Ppp1r9a), phosphatase and actin regulator 2 (Phactr2), Klf14, potassium voltage-gated channel, subfamily Q, member 1 (
Kcnq1), cytidine monophospho-N-acetylneuraminic acid hydroxylase (Cmah), antisense Igf2r RNA (Airn), and Snrpn--had decreased 5-hmC peaks by BPA exposure.
When combining all four major cardiac channelopathy genes (
KCNQ1, KCNH2, SCN5A, and RYR2), ultra-rare, nonsynonymous variants were significantly overrepresented in European SIDS cases versus European control subjects (P = 0.013).
Zhao et al., "Effects of IGF2BP2,
KCNQ1 and GCKR polymorphisms on clinical outcome in metastatic gastric cancer treated with EOF regimen," Pharmacogenomics, vol.
Association of
KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.
Some studies showed that cervical SCI promote shortening of QT interval and increases in QT dispersion (Bartholdy et al., 2014; Saunders et al., 2015).The short QT interval shows uniformity in time and space in the ventricle, producing an exaggerated heterogeneity of repolarization, hastens recovery and reduced refractoriness in the ventricle (Patel et al., 2010).The ion channelopathies that cause SQTS (mutation in KCNH2,
KCNQ1, KCNJ2 that encodes cardiac [K.sup.+] channel or mutation in CACNA1c, CACNB2b that encodes cardiac [Ca.sup.2+] channel) not only abbreviate repolarization but they significantly increase dispersion of repolarization, thus creating the cellular basis for both the substrate and trigger necessary for the initiation of reentry (Patel et al., 2010).
CISD2 3 1 1 0 OTOGL 58 0 34 0 Watch list: low GC-can be problematic MYO6 34 0 27 0 Watch list: low GC-can be problematic GPR98 90 0 24 0 Watch list: low GC-can be problematic MYO3A 33 0 18 0 Watch list: low GC-can be problematic HSD17B4 26 0 13 0 Watch list: low GC-can be problematic PCDH15 39 0 12 0 Watch list: low GC-can be problematic RDX 14 0 10 0 Watch list: low GC-can be problematic SERPINB6 9 0 1 1 Watch list: high GC-can be problematic GIPC3 6 0 0 1 Watch list: high GC-can be problematic
KCNQ1 17 0 0 1 Watch list: high GC-can be problematic P2RX2 10 0 0 1 Watch list: high GC-can be problematic TMIE 4 0 0 1 Watch list: high GC-can be problematic Table 3.
The congenital forms--Jervell-Lange-Nielsen syndrome and Romano-Ward syndrome--are caused by inherited channelopathies, most frequently due to mutations of the
KCNQ1, KCNH2 and SCN5A genes.