Skip to main content
Journal cover image

Variation within DNA repair pathway genes and risk of multiple sclerosis.

Publication ,  Journal Article
Briggs, FBS; Goldstein, BA; McCauley, JL; Zuvich, RL; De Jager, PL; Rioux, JD; Ivinson, AJ; Compston, A; Hafler, DA; Hauser, SL; Oksenberg, JR ...
Published in: Am J Epidemiol
July 15, 2010

Multiple sclerosis (MS) is a complex autoimmune disease of the central nervous system with a prominent genetic component. The primary genetic risk factor is the human leukocyte antigen (HLA)-DRB1*1501 allele; however, much of the remaining genetic contribution to MS has not been elucidated. The authors investigated the relation between variation in DNA repair pathway genes and risk of MS. Single-locus association testing, epistatic tests of interactions, logistic regression modeling, and nonparametric Random Forests analyses were performed by using genotypes from 1,343 MS cases and 1,379 healthy controls of European ancestry. A total of 485 single nucleotide polymorphisms within 72 genes related to DNA repair pathways were investigated, including base excision repair, nucleotide excision repair, and double-strand breaks repair. A single nucleotide polymorphism variant within the general transcription factor IIH, polypeptide 4 gene, GTF2H4, on chromosome 6p21.33 was significantly associated with MS (odds ratio = 0.7, P = 3.5 x 10(-5)) after accounting for multiple testing and was not due to linkage disequilibrium with HLA-DRB1*1501. Although other candidate genes examined here warrant further follow-up studies, collectively, these results derived from a well-powered study do not support a strong role for common variation within DNA repair pathway genes in MS.

Duke Scholars

Published In

Am J Epidemiol

DOI

EISSN

1476-6256

Publication Date

July 15, 2010

Volume

172

Issue

2

Start / End Page

217 / 224

Location

United States

Related Subject Headings

  • White People
  • Polymorphism, Single Nucleotide
  • Multiple Sclerosis
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Epidemiology
  • DNA Repair
  • 4202 Epidemiology
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Briggs, F. B. S., Goldstein, B. A., McCauley, J. L., Zuvich, R. L., De Jager, P. L., Rioux, J. D., … International Multiple Sclerosis Genetics Consortium, . (2010). Variation within DNA repair pathway genes and risk of multiple sclerosis. Am J Epidemiol, 172(2), 217–224. https://doi.org/10.1093/aje/kwq086
Briggs, Farren B. S., Benjamin A. Goldstein, Jacob L. McCauley, Rebecca L. Zuvich, Philip L. De Jager, John D. Rioux, Adrian J. Ivinson, et al. “Variation within DNA repair pathway genes and risk of multiple sclerosis.Am J Epidemiol 172, no. 2 (July 15, 2010): 217–24. https://doi.org/10.1093/aje/kwq086.
Briggs FBS, Goldstein BA, McCauley JL, Zuvich RL, De Jager PL, Rioux JD, et al. Variation within DNA repair pathway genes and risk of multiple sclerosis. Am J Epidemiol. 2010 Jul 15;172(2):217–24.
Briggs, Farren B. S., et al. “Variation within DNA repair pathway genes and risk of multiple sclerosis.Am J Epidemiol, vol. 172, no. 2, July 2010, pp. 217–24. Pubmed, doi:10.1093/aje/kwq086.
Briggs FBS, Goldstein BA, McCauley JL, Zuvich RL, De Jager PL, Rioux JD, Ivinson AJ, Compston A, Hafler DA, Hauser SL, Oksenberg JR, Sawcer SJ, Pericak-Vance MA, Haines JL, Barcellos LF, International Multiple Sclerosis Genetics Consortium. Variation within DNA repair pathway genes and risk of multiple sclerosis. Am J Epidemiol. 2010 Jul 15;172(2):217–224.
Journal cover image

Published In

Am J Epidemiol

DOI

EISSN

1476-6256

Publication Date

July 15, 2010

Volume

172

Issue

2

Start / End Page

217 / 224

Location

United States

Related Subject Headings

  • White People
  • Polymorphism, Single Nucleotide
  • Multiple Sclerosis
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Epidemiology
  • DNA Repair
  • 4202 Epidemiology