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Updated: Jun 3, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of
Ida Manna1, Maria Liguori, Paola Valentino
1Institute of Neurological Science, National Research Council, Cosenza, Italy. i.manna@isn.cnr.it
Genetic variations in the nitric oxide synthase 2A (NOS2A) gene were not associated with multiple sclerosis (MS) susceptibility in an Italian population. This study found no link between NOS2A gene polymorphisms and MS risk.
Area of Science:
- Genetics
- Immunology
- Neurology
Background:
- Multiple sclerosis (MS) susceptibility is influenced by complex genetic interactions.
- The nitric oxide synthase 2A (NOS2A) gene has been implicated in MS risk through genome-wide screens.
Purpose of the Study:
- To investigate the association between genetic variants in the NOS2A gene and MS susceptibility.
- To determine if specific single nucleotide polymorphisms (SNPs) in NOS2A confer risk for developing MS.
Main Methods:
- A case-control study involving 214 Italian MS patients and 121 controls.
- Analysis of 13 single nucleotide polymorphisms (SNPs) in the NOS2A gene using the SNPlex™ Genotyping System.
- Genotype data analyzed with Genemapper 4.0 and Haploview 4.1 software.
Main Results:
- No statistically significant association was found between the studied NOS2A gene alleles and MS cases versus controls (P>0.05).
- Haplotype block analysis also failed to identify any NOS2A-associated haplotypes.
- The investigated genetic variations within the NOS2A gene do not appear to influence MS susceptibility.
Conclusions:
- Polymorphic variations in the NOS2A gene are unlikely to be a significant risk factor for MS in the Italian population.
- Further research may be needed to explore other genetic factors contributing to MS pathogenesis.
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