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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Linkage disequilibrium analyses within chromosome 19p in multiple sclerosis
1VAMC, SUNY Upstate Medical University, 800 Irving Avenue, Research (151), Syracuse, NY 13210, USA.
Multiple Sclerosis (Houndmills, Basingstoke, England)
|January 23, 2008
Summary
This study investigated chromosome 19p single nucleotide polymorphisms (SNPs) and multiple sclerosis (MS) risk. No significant associations were found, reinforcing previous negative conclusions regarding this genomic region
Area of Science:
- Genetics
- Neurology
- Immunology
Background:
- Conflicting previous studies suggest a potential role for chromosome 19p in multiple sclerosis (MS) etiology.
- The 19p region contains genes implicated in various cellular functions relevant to MS pathogenesis.
Purpose of the Study:
- To investigate the association between single nucleotide polymorphism (SNP) variants in chromosome 19p and MS susceptibility.
- To resolve conflicting observations regarding the 19p region's contribution to MS.
Main Methods:
- Utilized the pedigree disequilibrium test (PDT), TRANSMIT, family-based association tests (FBAT), and haplotype-based association tests (HBAT).
- Analyzed 569 SNP variants and 608 haplotypes in 257 Caucasian families.
- Assessed linkage disequilibrium (LD) and correlated it with MS-associated haplotypes.
Main Results:
- No significant association was detected for individual SNP alleles after multiple testing correction.
- Weak associations were observed for several marker haplotypes within candidate genes using TRANSMIT and HBAT.
- These observed associations did not meet the threshold for statistical significance after correction for multiple testing.
Conclusions:
- The findings align with previous studies indicating no significant role for the 19p region in multiple sclerosis.
- The investigated SNP variants and haplotypes do not appear to be major contributors to MS risk in the studied population.
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