Association of CDKAL1 Polymorphisms with Early-Onset Atopic Dermatitis in Koreansopen access
- Authors
- Heo, Won Il; Park, Kui Young; Lee, Mi-Kyung; Kim, Ju Hee; Moon, Nam Ju; Seo, Seong Jun
- Issue Date
- Jun-2018
- Publisher
- KOREAN DERMATOLOGICAL ASSOC
- Keywords
- Atopic dermatitis; CDKAL1; ERBB2; Whole exome sequencing
- Citation
- ANNALS OF DERMATOLOGY, v.30, no.3, pp 276 - 283
- Pages
- 8
- Journal Title
- ANNALS OF DERMATOLOGY
- Volume
- 30
- Number
- 3
- Start Page
- 276
- End Page
- 283
- URI
- https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/962
- DOI
- 10.5021/ad.2018.30.3.276
- ISSN
- 1013-9087
2005-3894
- Abstract
- Background: 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. Objective: Identification of candidate functional genetic variants associated with early-onset AD in Koreans. Methods: Whole-exome sequencing (WES) was performed in three families. Sanger sequencing was used to validate detected variants in 112 AD patients and 61 controls. Results: 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 similar to 0.83; p=0.0133) in allele frequencies. The CC genotype of CDKAL1 had significantly increased risk of AD (OR, 2.16; 95% CI, 1.0 similar to 4.6; p=0.0475). rs1058808 had no correlation with AD. Total eosinophil count was significantly increased in AD patients with the CC genotype of CDKAL1 (rs77152992). Conclusion: CDKAL1 (rs77152992) and ERBB2 (rs1058808) were deemed functionally interesting based on WES. Our case-control study suggests that the CC genotype of rs77152992 may be associated with increased eosinophil counts. It may enhance the risk of early-onset AD.
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