Abstract
Atopic dermatitis (AD) has increased in frequency to rates as high as 20% for children in developed countries. AD is one of the most common childhood diseases and has a complex etiology involving genetic and environmental factors. Thus, a broad understanding of genetic background is needed for early diagnosis of AD. Identification of candidate functional genetic variants associated with early-onset AD in Koreans. Whole-exome sequencing (WES) was performed in three families. Sanger sequencing was used to validate detected variants in 112 AD patients and 61 controls. Functional variants were filtered by WES, and then variants related to allergic immune diseases were selected through a literature search. Two candidate non-synonymous single-nucleotide polymorphisms of CDKAL1 (rs77152992) and ERBB2 (rs1058808) were identified, c.1226C>T, p.Pro409Leu, c.3463C>G, and p. Pro1170Ala respectively. A case-control study was performed to determine whether rs77152992 and rs1058808 are candidate risk factors for early-onset AD. rs77152992 was significantly associated with early-onset AD (odds ratio [OR], 0.42; 95% confidence interval [CI], 0.21~0.83; p=0.0133) in allele frequencies. The CC genotype of CDKAL1 had significantly increased risk o...Continue Reading
References
Oct 20, 2004·Proceedings of the National Academy of Sciences of the United States of America·Paul D Thomas, Anish Kejariwal
Jul 19, 2005·Genome Research·Adam SiepelDavid Haussler
Mar 16, 2007·American Journal of Human Genetics·Gregory V KryukovShamil R Sunyaev
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
May 30, 2009·Acta Dermato-venereologica·Hagen OttSylvia Lehmann
Jul 10, 2009·Genes and Immunity·M QuarantaF Capon
Apr 12, 2011·Nature Genetics·Mark A DePristoMark J Daly
Oct 14, 2011·The New England Journal of Medicine·Alan D IrvineDonald Y M Leung
Dec 14, 2011·Genetic Epidemiology·Rémi Kazma, Julia N Bailey
Jan 19, 2012·Nature Reviews. Genetics·Greg Gibson
May 4, 2012·Archives of Dermatological Research·Annika SääfMaria Bradley
Dec 4, 2012·Human Immunology·Gwan Gyu Song, Young Ho Lee
Jan 24, 2013·Briefings in Bioinformatics·Stephan PabingerZlatko Trajanoski
Feb 12, 2013·Nature Biotechnology·Kristian CibulskisGad Getz
Mar 5, 2013·Allergy·D GarmhausenN Novak
Nov 8, 2013·Journal of Human Genetics·Bahareh RabbaniNejat Mahdieh
Mar 19, 2014·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Hava T LadinskyJohn W Sleasman
Mar 17, 2015·Journal of Dermatological Science·Tomomitsu Miyagaki, Makoto Sugaya
May 1, 2015·Annals of Nutrition & Metabolism·Sophie Nutten
Nov 14, 2015·International Immunopharmacology·Pablo Coto-SeguraEliecer Coto
Apr 28, 2016·Experimental Dermatology·Kapsok LiSeong Jun Seo
Oct 26, 2016·Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology·Lianghua Bin, Donald Y M Leung