HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica

Marcelo Matiello; Janet Schaefer-Klein; Doralina G. Brum; Elizabeth J. Atkinson; Orhun H. Kantarci; Brian G. Weinshenker

doi:10.1177/1352458510374340

HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica

Marcelo Matiello, Janet Schaefer-Klein, Doralina G. Brum, Elizabeth J. Atkinson, Orhun H. Kantarci, Brian G. Weinshenker

Neurology

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

Abstract

Background: Association of the HLA-DRB1*1501 allele with multiple sclerosis is well established, but its association with neuromyelitis optica has only been evaluated in small populations. Methods: We performed a case-control genetic association study to evaluate the association of HLA-DRB1*1501 with neuromyelitis optica. The single nucleotide polymorphism rs3135388, which tags HLA-DRB1*1501, was genotyped in 164 patients with neuromyelitis optica, 220 patients with multiple sclerosis and 959 controls matched for age, gender and ethnicity. Genotyping for rs3135388 was performed by Taqman-based 5' nuclease assay. Results: Rs3135388*A was positively associated with multiple sclerosis (OR = 3.93; 95% CI = 2.58-5.97, p = 1.18 × 10 ^-09) but negatively associated with NMO (OR = 0.57; 95% CI = 0.36-0.91, p = 0.01). Conclusions: Multiple sclerosis and neuromyelitis optica differ in their associations with DRB1*1501.

Original language	English (US)
Pages (from-to)	981-984
Number of pages	4
Journal	Multiple Sclerosis
Volume	16
Issue number	8
DOIs	https://doi.org/10.1177/1352458510374340
State	Published - Aug 2010

Keywords

HLA
genetics
multiple sclerosis
neuromyelitis optica
susceptibility

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1177/1352458510374340

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title = "HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica",

abstract = "Background: Association of the HLA-DRB1*1501 allele with multiple sclerosis is well established, but its association with neuromyelitis optica has only been evaluated in small populations. Methods: We performed a case-control genetic association study to evaluate the association of HLA-DRB1*1501 with neuromyelitis optica. The single nucleotide polymorphism rs3135388, which tags HLA-DRB1*1501, was genotyped in 164 patients with neuromyelitis optica, 220 patients with multiple sclerosis and 959 controls matched for age, gender and ethnicity. Genotyping for rs3135388 was performed by Taqman-based 5' nuclease assay. Results: Rs3135388*A was positively associated with multiple sclerosis (OR = 3.93; 95% CI = 2.58-5.97, p = 1.18 × 10 -09) but negatively associated with NMO (OR = 0.57; 95% CI = 0.36-0.91, p = 0.01). Conclusions: Multiple sclerosis and neuromyelitis optica differ in their associations with DRB1*1501.",

keywords = "HLA, genetics, multiple sclerosis, neuromyelitis optica, susceptibility",

author = "Marcelo Matiello and Janet Schaefer-Klein and Brum, {Doralina G.} and Atkinson, {Elizabeth J.} and Kantarci, {Orhun H.} and Weinshenker, {Brian G.}",

year = "2010",

month = aug,

doi = "10.1177/1352458510374340",

language = "English (US)",

volume = "16",

pages = "981--984",

journal = "Multiple Sclerosis",

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T1 - HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica

AU - Matiello, Marcelo

AU - Schaefer-Klein, Janet

AU - Brum, Doralina G.

AU - Atkinson, Elizabeth J.

AU - Kantarci, Orhun H.

AU - Weinshenker, Brian G.

PY - 2010/8

Y1 - 2010/8

N2 - Background: Association of the HLA-DRB1*1501 allele with multiple sclerosis is well established, but its association with neuromyelitis optica has only been evaluated in small populations. Methods: We performed a case-control genetic association study to evaluate the association of HLA-DRB1*1501 with neuromyelitis optica. The single nucleotide polymorphism rs3135388, which tags HLA-DRB1*1501, was genotyped in 164 patients with neuromyelitis optica, 220 patients with multiple sclerosis and 959 controls matched for age, gender and ethnicity. Genotyping for rs3135388 was performed by Taqman-based 5' nuclease assay. Results: Rs3135388*A was positively associated with multiple sclerosis (OR = 3.93; 95% CI = 2.58-5.97, p = 1.18 × 10 -09) but negatively associated with NMO (OR = 0.57; 95% CI = 0.36-0.91, p = 0.01). Conclusions: Multiple sclerosis and neuromyelitis optica differ in their associations with DRB1*1501.

AB - Background: Association of the HLA-DRB1*1501 allele with multiple sclerosis is well established, but its association with neuromyelitis optica has only been evaluated in small populations. Methods: We performed a case-control genetic association study to evaluate the association of HLA-DRB1*1501 with neuromyelitis optica. The single nucleotide polymorphism rs3135388, which tags HLA-DRB1*1501, was genotyped in 164 patients with neuromyelitis optica, 220 patients with multiple sclerosis and 959 controls matched for age, gender and ethnicity. Genotyping for rs3135388 was performed by Taqman-based 5' nuclease assay. Results: Rs3135388*A was positively associated with multiple sclerosis (OR = 3.93; 95% CI = 2.58-5.97, p = 1.18 × 10 -09) but negatively associated with NMO (OR = 0.57; 95% CI = 0.36-0.91, p = 0.01). Conclusions: Multiple sclerosis and neuromyelitis optica differ in their associations with DRB1*1501.

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KW - genetics

KW - multiple sclerosis

KW - neuromyelitis optica

KW - susceptibility

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HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica

Abstract

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