The Genetics of Atopy and Atopic Eczema

MacLean, James A.; Eidelman, Frank J.

doi:10.1001/archderm.137.11.1474

Cited by 22 publications

(10 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The strongest risk factor for the development of allergic symptoms has been a strong family history of allergic disease irrespective of the varying prevalence and environmental risk factors across populations and societies [9], [12]. Various reports support the genetic basis of atopy and allergic disease [13], [14], [15], [16], [17]. Twin studies provide key evidence for a genetic effect as there was a greater concordance of allergic manifestations observed in monozygotic compared to dizygotic twins [18], [19], [20], [21] and the heritability for atopy is estimated to be ranging between 50–84%.…”

Section: Introductionmentioning

confidence: 99%

Genome-Wide Association Study for Atopy and Allergic Rhinitis in a Singapore Chinese Population

et al. 2011

View full text Add to dashboard Cite

Allergic rhinitis (AR) is an atopic disease which affects about 600 million people worldwide and results from a complex interplay between genetic and environmental factors. However genetic association studies on known candidate genes yielded variable results. The aim of this study is to identify the genetic variants that influence predisposition towards allergic rhinitis in an ethnic Chinese population in Singapore using a genome-wide association study (GWAS) approach. A total of 4461 ethnic Chinese volunteers were recruited in Singapore and classified according to their allergic disease status. The GWAS included a discovery stage comparing 515 atopic cases (including 456 AR cases) and 486 non-allergic non-rhinitis (NANR) controls. The top SNPs were then validated in a replication cohort consisting of a separate 2323 atopic cases (including 676 AR cases) and 511 NANR controls. Two SNPs showed consistent association in both discovery and replication phases; MRPL4 SNP rs8111930 on 19q13.2 (OR = 0.69, Pcombined = 4.46×10−05) and BCAP SNP rs505010 on chromosome 10q24.1 (OR = 0.64, Pcombined = 1.10×10−04). In addition, we also replicated multiple associations within known candidates regions such as HLA-DQ and NPSR1 locus in the discovery phase. Our study suggests that MRPL4 and BCAP, key components of the HIF-1α and PI3K/Akt signaling pathways respectively, are two novel candidate genes for atopy and allergic rhinitis. Further study on these molecules and their signaling pathways would help in understanding of the pathogenesis of allergic rhinitis and identification of targets for new therapeutic intervention.

show abstract

Section: Introductionmentioning

confidence: 99%

Genome-Wide Association Study for Atopy and Allergic Rhinitis in a Singapore Chinese Population

et al. 2011

View full text Add to dashboard Cite

show abstract

“…Identification of the epidermal differentiation complex (EDC) on chromosome 1q21 by genome screening has come into the spotlight, since many components that shape the defensive barrier are encoded in the EDC [2,5]. In addition to the EDC, several candidate genes located on different chromosomes have been introduced via linkage analyses, and these genes have been recognized as genetic factors in AD [5,6]. Since AD is a systemic disorder, it simultaneously triggers asthma and allergic rhinitis as well as food allergies, where serum IgE and peripheral eosinophils are elevated [7].…”

Section: Introductionmentioning

confidence: 99%

Two‐dimensional electrophoretic profiling of atopic dermatitis in primary cultured keratinocytes from patients

et al. 2006

View full text Add to dashboard Cite

Recently, we reported altered protein expression in primary cultured fibroblasts from atopic dermatitis (AD) patients. As a sequential study, we conducted proteomic analysis of primary keratinocytes derived from AD patients to further identify AD-related proteins. Three pH ranges, 4-7, 6-9, and 7-11, were used to profile the altered protein expression in AD. We obtained 46 candidate spots from the 2-D gel image analysis: 18 proteins were up-regulated and 27 proteins were down-regulated. Among the several important candidate proteins, NCC27 showed the same profile of a defect in PTM in both AD-derived keratinocytes and fibroblasts. On the basis of current and previous reports, real-time PCR was performed on select candidate genes to compare RNA and protein expression levels in AD-derived keratinocytes and fibroblasts. Our results provide new clues to aid in understanding the mechanism of atopic alterations in keratinocytes and suggest new AD-associated proteins that are important in AD pathogenesis.

show abstract

“…This disorder, primarily occurring in infants and children, is the most common disease observed in pediatric dermatology practice, with the prevalence reaching 15% in this age group 1,2 . Development of AD is dependent on multiple genes, but environmental factors influence the expression of the disease 3,4 …”

Section: Introductionmentioning

confidence: 99%