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http://purl.uniprot.org/citations/23549433http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/23549433http://www.w3.org/2000/01/rdf-schema#comment"

Background

The G allele of NOTCH4 rs422951 is protective against demyelinating disease in Japanese.

Objectives

The purpose of this study was to assess the relation of the G allele to neuromyelitis optica (NMO)/NMO spectrum disorder (NMOSD) and multiple sclerosis (MS) and the interaction between the G allele and HLA-DRB1 alleles, and to clarify any association of the G allele with clinical features.

Methods

DNA sequencing was used to genotype 106 NMO/NMOSD patients, 118 MS patients and 152 healthy controls (HCs) for rs422951.

Results

G allele frequency in MS patients, but not that in NMO/NMOSD patients, was lower than that in HCs (8.9% vs 21.7%, p<0.0001, odds ratio (OR)=0.35). HLA-DRB1*0405 was positively associated with MS (OR=2.22, p(corr) =0.0380) while DRB1*0901 was negatively associated (OR=0.32, p(corr) =0.0114). Logistic regression analyses revealed that, after adjusting for gender and either HLA-DRB1*0405 or DRB1*0901, rs422951 was associated with MS in the dominant model (OR=0.37, 95% confidence interval (CI)= 0.20-0.66, p=0.0012). Haplotype analyses identified two susceptible and three resistant haplotypes formed from rs422951 and either HLA-DRB1*0405 or DRB1*0901. There were no statistically significant differences in clinical features between G allele carriers and non-G allele carriers.

Conclusion

This NOTCH4 missense mutation decreased the risk for developing MS in Japanese, but did not affect clinical features of those who had already developed the disease."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.org/dc/terms/identifier"doi:10.1177/1352458513482512"xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Huang J."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Kanda T."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Miki T."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Matsumoto M."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Okada K."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Miyamoto K."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Sato S."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Ochi H."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Tsuji S."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Matsushita T."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Ochi K."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Mochizuki H."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Yamasaki R."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Yoshimura S."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Kusunoki S."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Yonekawa T."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Kira J."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Isobe N."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/author"Nakatsuji Y."xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/date"2013"xsd:gYear
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/name"Mult Scler"xsd:string
http://purl.uniprot.org/citations/23549433http://purl.uniprot.org/core/pages"1696-1703"xsd:string
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