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An investigation of NOS2A promoter polymorphisms in Australian multiple sclerosis patients.
Eur J Hum Genet 2005; 13(7):815-22EJ

Abstract

As with other major autoimmune diseases, susceptibility to multiple sclerosis (MS) is believed to result from the complex interaction of a number of genes, each with modest effect. Extensive research of experimental autoimmune encephalomyelitis in mice and several direct MS studies have implicated NOS2A, which encodes the inducible form of nitric oxide synthase, and the genetic region encoding NOS2A, 17q11.2, has been identified in a number of genome wide screens as being potentially associated with MS. We investigated four single nucleotide polymorphisms in the proximal promoter region of NOS2A, in a case-control group of 100 Australian MS patients and 100 controls and in 203 MS patients and their unaffected parents. We found a trend toward excess transmission of the -277A allele (tag for the AGCC haplotype) to HLA-DRB1*1501-positive MS patients (P (uncorrected)=0.05). We initially discovered a trend toward over-representation of the AGCC haplotype in HLA-DRB1*1501-positive compared to HLA-DRB1*1501-negative MS patients in the case-control cohort. However, when combined with the probands from the transmission disequilibrium analysis, this trend was nullified. Nonetheless, despite the lack of significant evidence of association for the NOS2A promoter polymorphisms with MS, the gene remains an interesting candidate for MS susceptibility, particularly with regard to the HLA-DRB1*1501 haplotype.

Authors+Show Affiliations

The Institute for Immunology and Allergy Research, Westmead Millennium Institute, Westmead Campus, University of Sydney, Westmead NSW 2145, Australia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15856071

Citation

Bugeja, Matthew J., et al. "An Investigation of NOS2A Promoter Polymorphisms in Australian Multiple Sclerosis Patients." European Journal of Human Genetics : EJHG, vol. 13, no. 7, 2005, pp. 815-22.
Bugeja MJ, Booth DR, Bennetts BH, et al. An investigation of NOS2A promoter polymorphisms in Australian multiple sclerosis patients. Eur J Hum Genet. 2005;13(7):815-22.
Bugeja, M. J., Booth, D. R., Bennetts, B. H., Heard, R. N., Burgner, D., & Stewart, G. J. (2005). An investigation of NOS2A promoter polymorphisms in Australian multiple sclerosis patients. European Journal of Human Genetics : EJHG, 13(7), pp. 815-22.
Bugeja MJ, et al. An Investigation of NOS2A Promoter Polymorphisms in Australian Multiple Sclerosis Patients. Eur J Hum Genet. 2005;13(7):815-22. PubMed PMID: 15856071.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - An investigation of NOS2A promoter polymorphisms in Australian multiple sclerosis patients. AU - Bugeja,Matthew J, AU - Booth,David R, AU - Bennetts,Bruce H, AU - Heard,Robert N S, AU - Burgner,David, AU - Stewart,Graeme J, PY - 2005/4/28/pubmed PY - 2005/9/15/medline PY - 2005/4/28/entrez SP - 815 EP - 22 JF - European journal of human genetics : EJHG JO - Eur. J. Hum. Genet. VL - 13 IS - 7 N2 - As with other major autoimmune diseases, susceptibility to multiple sclerosis (MS) is believed to result from the complex interaction of a number of genes, each with modest effect. Extensive research of experimental autoimmune encephalomyelitis in mice and several direct MS studies have implicated NOS2A, which encodes the inducible form of nitric oxide synthase, and the genetic region encoding NOS2A, 17q11.2, has been identified in a number of genome wide screens as being potentially associated with MS. We investigated four single nucleotide polymorphisms in the proximal promoter region of NOS2A, in a case-control group of 100 Australian MS patients and 100 controls and in 203 MS patients and their unaffected parents. We found a trend toward excess transmission of the -277A allele (tag for the AGCC haplotype) to HLA-DRB1*1501-positive MS patients (P (uncorrected)=0.05). We initially discovered a trend toward over-representation of the AGCC haplotype in HLA-DRB1*1501-positive compared to HLA-DRB1*1501-negative MS patients in the case-control cohort. However, when combined with the probands from the transmission disequilibrium analysis, this trend was nullified. Nonetheless, despite the lack of significant evidence of association for the NOS2A promoter polymorphisms with MS, the gene remains an interesting candidate for MS susceptibility, particularly with regard to the HLA-DRB1*1501 haplotype. SN - 1018-4813 UR - https://www.unboundmedicine.com/medline/citation/15856071/An_investigation_of_NOS2A_promoter_polymorphisms_in_Australian_multiple_sclerosis_patients_ L2 - http://dx.doi.org/10.1038/sj.ejhg.5201422 DB - PRIME DP - Unbound Medicine ER -