Authors
Lisa F Barcellos, Stephen Sawcer, Patricia P Ramsay, Sergio E Baranzini, Glenys Thomson, Farren Briggs, Bruce CA Cree, Ann B Begovich, Pablo Villoslada, Xavier Montalban, Antonio Uccelli, Giovanni Savettieri, Robin R Lincoln, Carolyn DeLoa, Jonathan L Haines, Margaret A Pericak-Vance, Alastair Compston, Stephen L Hauser, Jorge R Oksenberg
Publication date
2006/9/15
Journal
Human molecular genetics
Volume
15
Issue
18
Pages
2813-2824
Publisher
Oxford University Press
Description
Variation in major histocompatibility complex genes on chromosome 6p21.3, specifically the human leukocyte antigen HLA-DR2 or DRB1*1501-DQB1*0602 extended haplotype, confers risk for multiple sclerosis (MS). Previous studies of DRB1 variation and both MS susceptibility and phenotypic expression have lacked statistical power to detect modest genotypic influences, and have demonstrated conflicting results. Results derived from analyses of 1339 MS families indicate DRB1 variation influences MS susceptibility in a complex manner. DRB1*15 was strongly associated in families (P=7.8×10−31), and a dominant DRB1*15 dose effect was confirmed (OR=7.5, 95% CI=4.4–13.0, P<0.0001). A modest dose effect was also detected for DRB1*03; however, in contrast to DRB1*15, this risk was recessive (OR=1.8, 95% CI=1.1–2.9, P=0.03). Strong evidence for under-transmission of DRB1*14 (P=5.7×10−6 …
Total citations
Scholar articles
LF Barcellos, S Sawcer, PP Ramsay, SE Baranzini… - Human molecular genetics, 2006