PMID- 33911738
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210924
IS  - 2005-3894 (Electronic)
IS  - 1013-9087 (Print)
IS  - 1013-9087 (Linking)
VI  - 32
IP  - 3
DP  - 2020 Jun
TI  - Association of DOCK8, IL17RA, and KLK12 Polymorphisms with Atopic Dermatitis in 
      Koreans.
PG  - 197-205
LID - 10.5021/ad.2020.32.3.197 [doi]
AB  - 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.
CI  - Copyright (c) 2020 The Korean Dermatological Association and The Korean Society for 
      Investigative Dermatology.
FAU - Heo, Won Il
AU  - Heo WI
AUID- ORCID: 0000-0003-3220-2275
AD  - Department of Dermatology, Chung-Ang University Hospital, Seoul, Korea.
FAU - Park, Kui Young
AU  - Park KY
AUID- ORCID: 0000-0001-5965-1754
AD  - Department of Dermatology, Chung-Ang University Hospital, Seoul, Korea.
FAU - Lee, Mi-Kyung
AU  - Lee MK
AUID- ORCID: 0000-0003-1824-476X
AD  - Department of Laboratory Medicine, Chung-Ang University Hospital, Seoul, Korea.
FAU - Bae, Yu Jeong
AU  - Bae YJ
AUID- ORCID: 0000-0001-8861-600X
AD  - Department of Dermatology, Chung-Ang University Hospital, Seoul, Korea.
FAU - Moon, Nam Ju
AU  - Moon NJ
AUID- ORCID: 0000-0003-3731-8429
AD  - Department of Ophthalmology, Chung-Ang University Hospital, Seoul, Korea.
FAU - Seo, Seong Jun
AU  - Seo SJ
AUID- ORCID: 0000-0003-2915-839X
AD  - Department of Dermatology, Chung-Ang University Hospital, Seoul, Korea.
LA  - eng
PT  - Journal Article
DEP - 20200424
PL  - Korea (South)
TA  - Ann Dermatol
JT  - Annals of dermatology
JID - 8916577
EIN - Ann Dermatol. 2020 Dec;32(6):538. PMID: 33911804
PMC - PMC7992614
OTO - NOTNLM
OT  - Atopic dermatitis
OT  - DOCK8
OT  - Exome sequencing
OT  - IL17RA
OT  - KLK12
OT  - Sanger sequencing
COIS- CONFLICTS OF INTEREST: The authors have nothing to disclose.
EDAT- 2021/04/30 06:00
MHDA- 2021/04/30 06:01
PMCR- 2020/06/01
CRDT- 2021/04/29 06:22
PHST- 2019/10/16 00:00 [received]
PHST- 2019/12/23 00:00 [revised]
PHST- 2019/12/30 00:00 [accepted]
PHST- 2021/04/29 06:22 [entrez]
PHST- 2021/04/30 06:00 [pubmed]
PHST- 2021/04/30 06:01 [medline]
PHST- 2020/06/01 00:00 [pmc-release]
AID - 10.5021/ad.2020.32.3.197 [doi]
PST - ppublish
SO  - Ann Dermatol. 2020 Jun;32(3):197-205. doi: 10.5021/ad.2020.32.3.197. Epub 2020 
      Apr 24.