No association between atopic dermatitis and the SLC9A3R1-NAT9 RUNX1 binding site polymorphism in Japanese patients

Hosomi, Naoko; Fukai, Kazuyoshi; Oiso, Naoki; Kato, Atsushi; Fukui, Mitsuru; Ishii, Mototsugu

doi:10.1111/j.1365-2230.2005.01720.x

Cited by 5 publications

(3 citation statements)

References 3 publications

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“…However, this disease association has not been confirmed by subsequent studies (Capon et al 2004;Butt et al 2005;Hosomi et al 2005;Huffmeier et al 2005;Hwu et al 2005;Morar et al 2006;Stuart et al 2006).…”

Section: Slc9a3r1: a Snp That Disrupts A Putative Runx1-binding Sitementioning

confidence: 70%

A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview

2006

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The 3' regulatory regions (3' RRs) of human genes play an important role in regulating mRNA 3' end formation, stability/degradation, nuclear export, subcellular localization and translation and are consequently rich in regulatory elements. Although 3' RRs contain only approximately 0.2% of known disease-associated mutations, this is likely to represent a rather conservative estimate of their actual prevalence. In an attempt to catalogue 3' RR-mediated disease and also to gain a greater understanding of the functional role of regulatory elements within 3' RRs, we have performed a systematic analysis of disease-associated 3' RR variants; 121 3' RR variants in 94 human genes were collated. These included 17 mutations in the upstream core polyadenylation signal sequence (UCPAS), 81 in the upstream sequence (USS) between the translational termination codon and the UCPAS, 6 in the left arm of the 'spacer' sequence (LAS) between the UCPAS and the pre-mRNA cleavage site (CS), 3 in the right arm of the 'spacer' sequence (RAS) or downstream core polyadenylation signal sequence (DCPAS) and 7 in the downstream sequence (DSS) of the 3'-flanking region, with 7 further mutations being treated as isolated examples. All the UCPAS mutations and the rather unusual cases of the DMPK, SCA8, FCMD and GLA mutations exert a significant effect on the mRNA phenotype and are usually associated with monogenic disease. By contrast, most of the remaining variants are polymorphisms that exert a comparatively minor influence on mRNA expression, but which may nevertheless predispose to or otherwise modify complex clinical phenotypes. Considerable efforts have been made to validate/elucidate the mechanisms through which the 3' untranslated region (3' UTR) variants affect gene expression. It is hoped that the integrative approach employed here in the study of naturally occurring variants of actual or potential pathological significance will serve to complement ongoing efforts to identify all functional regulatory elements in the human genome.

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Section: Slc9a3r1: a Snp That Disrupts A Putative Runx1-binding Sitementioning

confidence: 70%

A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview

2006

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“…There was also no evidence of association of the RUNX1 binding site and RAPTOR locus with psoriasis despite adequate power and evidence for linkage of psoriasis to distal chromosome 17q in families recruited from Germany and the United States (Stuart et al, 2005). Recently, there was no significant allelic association between the RUNX1 polymorphism and AD in a small Japanese adult cohort (Hosomi et al, 2005).…”

Section: Discussionmentioning

confidence: 99%

Investigation of the Chromosome 17q25 PSORS2 Locus in Atopic Dermatitis

Morar

Bowcock

Harper

et al. 2006

Journal of Investigative Dermatology

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Psoriasis and atopic dermatitis (AD) are strongly genetic and inherited as multi-factorial traits. In both diseases, linkage has been reported to chromosome 17q25. For psoriasis, the locus has been labelled PSORS2. Two peaks of association here contain the psoriasis candidate genes SLC9A3R (solute carrier family 9, isoform 3 regulatory factor), NAT9 (N-acetyltransferase superfamily), and RAPTOR (rapamycin (TOR)). We genotyped 14 of the most significantly associated single-nucleotide polymorphisms (SNPs) in these genes in a panel of 148 families (ECZ1) identified through a proband with active AD. The panel contains 350 siblings and 245 sib-pairs. Replication of positive findings was sought in a second panel, MRC-E, comprising of 278 families, 634 siblings, and 470 sib-pairs. SNP genotyping was carried out by Sequenom MassArray technology. Using family-based tests of association (transmission disequilibrium test), rs878906, in intron 3 of NAT9, was significantly associated with AD (P = 0.010) in the ECZ1 panel. In the MRC-E panel, rs895691, between the end of exon 6 of SLC9A3R1 and exon 7 of NAT9, was associated with AD (P = 0.037). These were not significant when multiple comparisons were taken into account. Haplotype analysis revealed no significant associations in either population. These results suggest that the psoriasis candidate genes do not account for previously observed linkage of the 17q25 PSORS2 locus to AD.

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“…There was no significant allelic association between the RUNX1 polymorphism (rs734232) and AD in a small Japanese adult population. (142) …”

Section: (A-3)-runx1 Genementioning

confidence: 99%

Molecular Genetic of Atopic Dermatitis : An Update

Al‐Shobaili

Ahmed

Alnomair

et al. 2016

IJHS

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Atopic dermatitis (AD) is a chronic multifactorial inflammatory skin disease. The pathogenesis of AD remains unclear, but the disease results from dysfunctions of skin barrier and immune response, where both genetic and environmental factors play a key role. Recent studies demonstrate the substantial evidences that show a strong genetic association with AD. As for example, AD patients have a positive family history and have a concordance rate in twins. Moreover, several candidate genes have now been suspected that play a central role in the genetic background of AD. In last decade advanced procedures similar to genome-wide association (GWA) and single nucleotide polymorphism (SNP) have been applied on different population and now it has been clarified that AD is significantly associated with genes of innate/adaptive immune systems, human leukocyte antigens (HLA), cytokines, chemokines, drug-metabolizing genes or various other genes. In this review, we will highlight the recent advancements in the molecular genetics of AD, especially on possible functional relevance of genetic variants discovered to date.

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No association between atopic dermatitis and the SLC9A3R1-NAT9 RUNX1 binding site polymorphism in Japanese patients

Cited by 5 publications

References 3 publications

A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview

A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview

Investigation of the Chromosome 17q25 PSORS2 Locus in Atopic Dermatitis

Molecular Genetic of Atopic Dermatitis : An Update

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