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Association of DOCK8, IL17RA, and KLK12 Polymorphisms with Atopic Dermatitis in Koreans

Annals of Dermatology 2020년 32권 3호 p.197 ~ 205
허원일 ( Heo Won-Il ) - Chung-Ang University Hospital Department of Dermatology

박귀영 ( Park Kui-Young ) - Chung-Ang University Hospital Department of Dermatology
이미경 ( Lee Mi-Kyung ) - Chung-Ang University Hospital Department of Laboratory Medicine
 ( Bae Yu-Jeong ) - Chung-Ang University Hospital Department of Dermatology
문남주 ( Moon Nam-Ju ) - Chung-Ang University Hospital Department of Ophthalmology
서성준 ( Seo Seong-Jun ) - Chung-Ang University Hospital Department of Dermatology

Abstract


Background: Early-onset and severe atopic dermatitis (AD) in patients increase the probability of the development of allergic rhinitis or asthma. Treatment and prevention strategies in infants and young children with AD are targeted toward treating the symptoms, restoring skin barrier functions, and reducing the absorption of environmental allergens in an attempt to attenuate or block the onset of asthma and food allergy.

Objective: Given that the initiating events in AD remain poorly understood, identifying those at risk and implementing strategies to prevent AD is necessary.

Methods: Whole-exome sequencing (WES) was performed in a 43 control group and a disease group with 20 AD patients without atopic march (AM) and 20 with AM. Sanger sequencing was carried out to validate found variants in cohorts.

Results: DOCK8, IL17RA, and KLK12 single-nucleotide polymorphisms were identified by WES as missense mutations: c.1289C>A, p.P97T (rs529208); c.1685C>A, p.P562G (rs12484684); and c.457+27>C, rs3745540, respectively. A case-control study show that total immunoglobulin E (IgE) level was significantly increased in the AA genotype of DOCK8 compared to the CA genotype in allergic patients. The rs12484684 of IL17RA increased risk of adult-onset AD (odds ratio: 1.63) compared to the control for (A) allele frequency. AD and AM Patients with the IL17RA CA genotype also had elevated IgE levels. rs3745540 of KLK12 was associated with AD in dominant model (odds ratio: 2.86).

Conclusion: DOCK8 (rs529208), IL17RA (rs12484684), and KLK12 (rs3745540), were identified using a new WES filtering method. the result suggests that polymorphism of DOCK8 and IL17RA might be related to increase the total IgE level.

키워드

Atopic dermatitis; DOCK8; Exome sequencing; IL17RA; KLK12; Sanger sequencing
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