Association of CDKAL1 Polymorphisms with Early-Onset Atopic Dermatitis in Koreans
Annals of Dermatology
;
: 276-283, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-715499
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], 0.21~0.83; p=0.0133) in allele frequencies. The CC genotype of CDKAL1 had significantly increased risk of AD (OR, 2.16; 95% CI, 1.0~4.6; 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Países Desenvolvidos
/
Estudos de Casos e Controles
/
Fatores de Risco
/
Diagnóstico Precoce
/
Dermatite Atópica
/
Eosinófilos
/
Patrimônio Genético
/
Frequência do Gene
/
Genótipo
/
Doenças do Sistema Imunitário
Tipo de estudo:
Estudo diagnóstico
/
Estudo de etiologia
/
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
/
Estudo de rastreamento
Limite:
Criança
/
Humanos
Idioma:
Inglês
Revista:
Annals of Dermatology
Ano de publicação:
2018
Tipo de documento:
Artigo
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