Association of CDKAL1 Polymorphisms with Early-Onset Atopic Dermatitis in Koreans.

Annals of Dermatology
Won Il HeoSeong Jun Seo

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

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Citations

Apr 30, 2021·Annals of Dermatology·Won Il HeoSeong Jun Seo
Jun 17, 2019·Dermatology : International Journal for Clinical and Investigative Dermatology·Mari LøsetKristian Hveem

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Methods Mentioned

BETA
PCR

Software Mentioned

- Aligner ( BWA
Picard
Burrows
WES
snpEff
Polyphen2
PSI
phyloP
PhastCons
Genome Analysis Toolkit

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