Article
Disease-associated KIF3A variants alter gene methylation and expression impacting skin barrier and atopic dermatitis risk.
Nature communications - 14 Aug 2020
Stevens Mariana L, Zhang Zhonghua, Johansson Elisabet, Ray Samriddha, Jagpal Amrita, Ruff Brandy P, Kothari Arjun, He Hua, Martin Lisa J, Ji Hong, Wikenheiser-Brokamp Kathryn, Weirauch Matthew T, Supp Dorothy M, Biagini Myers Jocelyn M, Khurana Hershey Gurjit K
Abstract excerpt
Single nucleotide polymorphisms (SNPs) in the gene encoding kinesin family member 3A, KIF3A, have been associated with atopic dermatitis (AD), a chronic inflammatory skin disorder. We find that KIF3A SNP rs11740584 and rs2299007 risk alleles create cytosine-phosphate-guanine sites, which are highly methylated and result in lower KIF3A expression, and this methylation is associated with increased transepidermal...
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