Impact of MS genetic loci on familial aggregation, clinical phenotype, and disease prediction.

ABSTRACT:

Objective

To investigate the role of known multiple sclerosis (MS)-associated genetic variants in MS familial aggregation, clinical expression, and accuracy of disease prediction in sporadic and familial cases.

Methods

A total of 1,443 consecutive patients were screened for MS and familial autoimmune history in a hospital-based Italian cohort. Among them, 461 sporadic and 93 familial probands were genotyped for 107 MS-associated polymorphisms. Their effect sizes were combined to calculate the weighted genetic risk score (wGRS).

Results

Family history of MS was reported by 17.2% of probands, and 33.8% reported a familial autoimmune disorder, with autoimmune thyroiditis and psoriasis being the most frequent. No difference in wGRS was observed between sporadic and famili

SUBMITTER: Esposito F 

PROVIDER: S-EPMC4503410 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature