# Genetic and Phenotypic Analysis of Multiple Sclerosis in Hispanics

> **NIH NIH R01** · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · 2020 · $607,398

## Abstract

PROJECT SUMMARY
This application proposes to address the critical need to include underrepresented populations in genomic
research, with the purpose of enhancing our understanding of the genetic and phenotypic landscape of multiple
sclerosis in the Hispanic population. Multiple sclerosis (MS) is a debilitating neuroimmunological and
neurodegenerative disease of the central nervous system affecting more than 400,000 individuals in the United
States. MS is characterized by chronic inflammation, myelin loss, gliosis, and varying degrees of axonal
pathology which impair saltatory conduction along axons that is necessary for normal functioning of nerve
impulses. MS has an undetermined etiology and results in episodic or progressive neurological dysfunction.
Although life span is modestly shortened, most patients experience increasing disability and consequent
deterioration in quality of life. MS thus carries a significant morbidity that takes an immeasurable toll on the
patients and their family members. The involvement of genetic factors in MS has long been appreciated.
However, the clinical heterogeneity and complex etiology of MS have been confounding factors for genetic
studies. While the first confirmed MS genetic association (with the HLA-DRB1*1501 allele) was identified in the
early 1970's, further gene discoveries were limited until late 2007. At that time, we demonstrated that a common
non-synonymous functional SNP in the IL7RA gene was associated with an increased risk of MS. This result
was confirmed in the first genome-wide association study (GWAS) conducted by the International Multiple
Sclerosis Genetics Consortium (IMSGC). These breakthroughs, along with both statistical and technological
advances, have led to the identification and confirmed association of >190 genetic variants for MS susceptibility.
Despite these advances, we have only uncovered a relatively small proportion of the genetic influences in MS.
Much is yet to be understood regarding the role of these and other genes in MS. We must explore how these
known genetic factors influence not only disease susceptibility, but disease outcomes, therapeutics, and
responses to environmental exposures. While current research findings are unraveling the genetic underpinnings
of individuals with Northern European genetic ancestry, large genetic studies of MS in Hispanics have yet to be
realized. Moreover, the generalization of current findings to individuals of different genetic ancestry is a
significant and unanswered question, especially in light of the reported differences in prevalence, clinical course,
and progression of MS across various ancestral populations. We hypothesize that observed phenotypic
differences between racial/ethnic populations are influenced by population-specific genetic factors. Our proposal
seeks to broaden our understanding of the genetic etiology of multiple sclerosis, with a specific focus on
performing the first battery of comprehensive analyses to elucidat...

## Key facts

- **NIH application ID:** 9850653
- **Project number:** 5R01NS096212-04
- **Recipient organization:** UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
- **Principal Investigator:** Jacob L McCauley
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $607,398
- **Award type:** 5
- **Project period:** 2016-08-01 → 2021-11-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9850653

## Citation

> US National Institutes of Health, RePORTER application 9850653, Genetic and Phenotypic Analysis of Multiple Sclerosis in Hispanics (5R01NS096212-04). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9850653. Licensed CC0.

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