Single nucleotide polymorphisms and the haplotype in the DEFB1 gene are associated with atopic dermatitis in a Korean population

Kim, Eugene; Lee, Jong-Eun; Namkung, Junghyun; Kim, Pyoung-Su; Kim, Sook; Shin, Eun-Soon; Cho, Eunyoung; Yang, Jun‐Mo

doi:10.1016/j.jdermsci.2008.12.005

Cited by 40 publications

(30 citation statements)

References 29 publications

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“…23 It also has to be acknowledged that, due to the limited number of samples available for the analysis, the power of our study could not have been sufficient to identify some possible small DEFB1 SNPs effects. In fact, the power of our study, calculated for the association between the different alleles and SLE risk, was $80% for the c.À52G>A, $40% for the c.À44C>G and $50% for the c.À20G>A SNP An association between polymorphism in the DEFB1 gene and autoimmune diseases has already been reported, [16][17][18][19][20][21][22] but to our knowledge, no previous studies have investigated the possible association between SLE and DEFB1 SNPs.…”

Section: Discussionmentioning

confidence: 97%

“…3,4 Different findings have been suggesting the implication of defensins in the pathogenesis of autoimmune disorder. [16][17][18][19][20][21][22] In our study, we investigated the possible association of three SNPs at positions À52, À44 and À20 in the 5'UTR of DEFB1 gene (encoding for human b-defensin-1), with the susceptibility and clinical manifestations of SLE.…”

Section: Discussionmentioning

confidence: 99%

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Functional single-nucleotide polymorphisms in the DEFB1 gene are associated with systemic lupus erythematosus in Southern Brazilians

Sandrin-Garcia

Brandão

Guimarães

et al. 2012

Lupus

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Systemic lupus erythematosus (SLE) is an autoimmune disease that results in inflammation and tissue damage. The etiology of SLE remains unknown, but recent studies have shown that the innate immune system may have a role in SLE pathogenesis through the secretion of small cationic peptides named defensins. The aim of the study was to determine the possible involvement in SLE of three functional single nucleotide polymorphisms (SNPs) (c.-52G>A, c.-44C>G and c.-20G>A) in the 5'UTR region of DEFB1 gene, by analyzing them in a population of 139 SLE patients and 288 healthy controls. The c.-52G>A SNP showed significant differences in allele and genotype frequency distribution between SLE patients and controls (p = 0.01 and p = 0.02 respectively) indicating protection against SLE (A allele, OR = 0.68, AA genotype OR = 0.51). Significant differences were also observed for c.-44C>G SNP, the C/G genotype being associated with susceptibility to SLE (OR = 1.60, p = 0.04). Moreover, statistically significant differences between patients and controls were found for two DEFB1 haplotypes (GCA and GGG, p = 0.01 and p = 0.02 respectively). When considering DEFB1 SNPs and SLE clinical and laboratory manifestations, significant association was found with neuropsychiatric disorders, immunological alterations and anti-DNA antibodies. In conclusion, our results evidence a possible role for the c.-52G>A and c.-44C>G DEFB1 polymorphisms in SLE pathogenesis, that can be considered as possible risk factors for development of disease and disease-related clinical manifestations. Additional studies are needed, to corroborate these results as well as functional studies to understand the biological role of these SNPs in the pathogenesis of SLE.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Functional single-nucleotide polymorphisms in the DEFB1 gene are associated with systemic lupus erythematosus in Southern Brazilians

Sandrin-Garcia

Brandão

Guimarães

et al. 2012

Lupus

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“…These data support that such cytokines upregulate IgE production to control eosinophils in the peripheral blood. The haplotypes in DEFB1 that are responsive to cutaneous colonization and infection by bacteria were significantly associated with susceptibility to AD, indicating that DEFB1 has a primary effect on skin inflammation and/or skin responsiveness to any kind of allergic reaction [29]. Analyses of the SNPs and haplotypes in SPINK5 and gene-gene interactions between SPINK5 and the DEFB1 showed associations with the susceptibility to the allergic type of AD [30].…”

Section: Summary Of Ad Associated Factors and Pathogenesismentioning

confidence: 95%

OMICS Integration Studies for New Insights on Atopic Dermatitis

Park¹

2014

CDT

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The number of Atopic Dermatitis (AD) patients has increased with modernization and industrialization, and AD patients and their family members experience severe quality of life issues. It is generally recognized that a combination of environmental factors such as allergens and bacterial infections, as well as genetic factors, are the principal inducers of the multiple immunologic and inflammatory responses seen in AD patients. In the present review article, we focused on the following primary issues from the broad category of AD disease that have been reported in research articles, including those by the authors' own research groups: i) AD types: characteristics of extrinsic and intrinsic types; ii) current treatments of AD and clinical applications; iii) new insights from OMICS integration studies for detecting hub genes; iv) summary of AD pathogenesis and associated factors; and v) further speculation for AD studies. The topics in this review that we focused on are expected to contribute to the understanding of AD disease-related factors. Since the mechanism of AD disease has been shown to be complex, our results may provide new clues to aid understanding of AD from the aspect of laboratorial OMICS applications.

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“…Aynı zamanda, NLR geniyle ilişki bazı polimorfizmler de (CARD4, CARD12, CARD15, NALP1, NALP12 ve NOD1) AD hastalarda gösterilmiştir (45). Β-defensin 1 geninde (DEFB1) görülen birkaç SNP'de AD gelişimi ile ilişkili bulunmuş, bunlardan bazılarıyla hastalığın şiddeti, hipereozinofili ve spesifik IgE varlığı arasında anlamlı korelasyon saptanmıştır (46).…”

Section: Patern-tanıyıcı Reseptörler Ve Antimikrobiyal Peptitler Ile unclassified

Atopik Dermatit ve Genetik

Arga¹

2018

Asthma Allergy Immunol

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Single nucleotide polymorphisms and the haplotype in the DEFB1 gene are associated with atopic dermatitis in a Korean population

Cited by 40 publications

References 29 publications

Functional single-nucleotide polymorphisms in the DEFB1 gene are associated with systemic lupus erythematosus in Southern Brazilians

Functional single-nucleotide polymorphisms in the DEFB1 gene are associated with systemic lupus erythematosus in Southern Brazilians

OMICS Integration Studies for New Insights on Atopic Dermatitis

Atopik Dermatit ve Genetik

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