Ontology highlight
ABSTRACT:
SUBMITTER: Sadovnick AD
PROVIDER: S-EPMC5429140 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Sadovnick A Dessa AD Gu Ben J BJ Traboulsee Anthony L AL Bernales Cecily Q CQ Encarnacion Mary M Yee Irene M IM Criscuoli Maria G MG Huang Xin X Ou Amber A Milligan Carol J CJ Petrou Steven S Wiley James S JS Vilariño-Güell Carles C
Human mutation 20170413 6
Genetic variants in the purinergic receptors P2RX4 and P2RX7 have been shown to affect susceptibility to multiple sclerosis (MS). In this study, we set out to evaluate whether rare coding variants of major effect could also be identified in these purinergic receptors. Sequencing analysis of P2RX4 and P2RX7 in 193 MS patients and 100 controls led to the identification of a rare three variant haplotype (P2RX7 rs140915863:C>T [p.T205M], P2RX7 rs201921967:A>G [p.N361S], and P2RX4 rs765866317:G>A [p. ...[more]