Genetic variation in the transforming growth factor beta1 gene in multiple sclerosis.
Transforming growth factor beta1 (TGFbeta1) is a Th2 cytokine encoded on chromosome 19q13, a region possibly linked to multiple sclerosis (MS). TGFbeta1 exerts favorable effects on experimental allergic encephalomyelitis. We performed a comprehensive search for genetic variants in this gene in 122 population-based sporadic cases of MS. We detected six variants, including three missense variants. We tested for association of the variants with susceptibility and course of MS and for linkage and transmission disequilibrium in a family series consisting of 395 samples in 59 pedigrees. Genetic variation in TGFB1 does not appear to contribute in a major way to susceptibility to MS.
Weinshenker
B G
BG
Department of Neurology, Mayo Clinic and Mayo Foundation, 200 First Street SW, Rochester, MN 55905, USA. weinb@mayo.edu
Hebrink
D
D
Kantarci
O H
OH
Schaefer-Klein
J
J
Atkinson
E
E
Schaid
D
D
McMurray
C M
CM
D000328:Adult; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D014644:Genetic Variation / Q000276:immunology*; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D020125:Mutation, Missense / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics; D016212:Transforming Growth Factor beta / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D053773:Transforming Growth Factor beta1
C508960:TGFB1 protein, human; D016212:Transforming Growth Factor beta; D053773:Transforming Growth Factor beta1