Genetic Risk Score Identifies Pediatric Patients With Greater MS Relapse Risk

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The findings support a causal relationship between vitamin D and MS relapse rate.
The findings support a causal relationship between vitamin D and MS relapse rate.

Six functional single nucleotide polymorphisms associated with vitamin D hypovitaminosis are also associated with risk of relapse in pediatric patients with multiple sclerosis (MS).

The findings — which were presented at the 32nd Congress of the European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS), taking place September 14-17, 2016 in London — support a causal relationship between vitamin D status and MS relapse rate.

To determine the role of a genetic risk score in MS relapse risk, researchers led by Jennifer Graves, MD, of the University of California, San Francisco, genotyped 181 pediatric patients with multiple sclerosis or clinically isolated syndrome for 29 functional polymorphisms previously identified in vitamin D pathway genes that are associated with 25-OH D levels.

Linear and Cox regression analyses revealed 6 polymorphisms that were strongly associated with levels of vitamin D in the patient population. An unweighted risk score accounted for 12% of vitamin D level variance in the participants and was associated with a 25% increase in the risk for relapse (Hazard Ratio [HR] 1.25, 95% CI 1.03, 1.49, P =.017). Notably, a 5-unit change in risk score for lower vitamin D (in a range of 0 to 12) was associated with a 5.4 ng/ml lower 25-OH D level (95% Confidence Interval [CI] -7.58, -3.14, P =.0000018).

Ultimately, the genetic risk scores associated with the 6 polymorphisms can help identify patients at greater risk of MS relapse and add to a growing body of evidence for a causal relationship between vitamin D status and MS.

Disclosures: Dr Graves reports grant support from Race to Erase MS, NMSS, Biogen, and Genetech. Dr Waubant reports that she is a volunteer advisory board member for a Novartis trial, and is the principal investigator for trials with Roche, Biogen, and Novartis. She also reports grant support from the National Institutes of Health (NIH), the National MS Society, and Race to Erase MS.

For more coverage of ECTRIMS 2016, go here


Graves J, Barcellos L, Belman A, et al. Vitamin D genetic risk score is strongly associated with vitamin D levels and relapse rate in pediatric MS patients. Presented at: ECTRIMS 2016. September 14-17, 2016; London, UK. Poster 832.

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