Article
Rare and low-frequency coding genetic variants contribute to pediatric-onset multiple sclerosis.
Multiple sclerosis (Houndmills, Basingstoke, England) - 1 Apr 2023
Horton Mary K, Shim Joan E, Wallace Amelia, Graves Jennifer S, Aaen Gregory, Greenberg Benjamin, Mar Soe, Wheeler Yolanda, Weinstock-Guttman Bianca, Waldman Amy, Schreiner Teri, Rodriguez Moses, Tillema Jan-Mendelt, Chitnis Tanuja, Krupp Lauren, Casper T Charles, Rensel Mary, Hart Janace, Quach Hong L, Quach Diana L, Schaefer Catherine, Waubant Emmanuelle, Barcellos Lisa F
Abstract excerpt
BACKGROUND: Rare genetic variants are emerging as important contributors to the heritability of multiple sclerosis (MS). Whether rare variants also contribute to pediatric-onset multiple sclerosis (POMS) is unknown. OBJECTIVE: To test whether genes harboring rare variants associated with adult-onset MS risk (PRF1, PRKRA, NLRP8, and HDAC7) and 52 major histocompatibility complex (MHC) genes are associated with...
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