Anne I Boullerne1, Mitchell T Wallin2, William J Culpepper3, Heidi Maloni4, Elizabeth A Boots5, Dagmar M Sweeney6, Douglas L Feinstein7. 1. Department of Anesthesiology, University Illinois, Chicago, IL, USA. 2. VA Multiple Sclerosis Center of Excellence-East, Washington, DC, USA; George Washington University School of Medicine in Washington, DC, USA; Department of Neurology, University Maryland, Baltimore, MD, USA. 3. VA Multiple Sclerosis Center of Excellence-East, Washington, DC, USA; Department of Neurology, University Maryland, Baltimore, MD, USA. 4. VA Multiple Sclerosis Center of Excellence-East, Washington, DC, USA. 5. Department of Psychology, University Illinois, Chicago, IL, USA; Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL. 6. Research Resources Center, University Illinois, Chicago, IL, USA. 7. Department of Anesthesiology, University Illinois, Chicago, IL, USA; Jesse Brown VA Medical Center, Chicago, IL, USA, USA. Electronic address: dlfeins@uic.edu.
Abstract
BACKGROUND: We previously reported that the single nucleotide polymorphism (SNP) rs9282860 in serine threonine kinase 11 (STK11) gene which codes for liver kinase B1 (LKB1) has higher prevalence in White relapsing-remitting multiple sclerosis (RRMS) patients than controls. However it is not known if this SNP is a risk factor for MS in other populations. METHODS: We assessed the prevalence of the STK11 SNP in samples collected from African American (AA) persons with MS (PwMS) and controls at multiple Veterans Affairs (VA) Medical Centers and from a network of academic MS centers. Genotyping was carried out using a specific Taqman assay. Comparisons of SNP frequencies were made using Fisher's exact test to determine significance and odds ratios. Group means were compared by appropriate t-tests based on normality and variance using SPSS V27. RESULTS: There were no significant differences in average age at first symptom onset, age at diagnosis, disease duration, or disease severity between RRMS patients recruited from VAMCs versus non-VAMCs. The SNP was more prevalent in AA than White PwMS, however only in secondary progressive MS (SPMS) patients was that difference statistically significant. AA SPMS patients had higher STK11 SNP prevalence than controls; and in that cohort the SNP was associated with older age at symptom onset and at diagnosis. CONCLUSIONS: The results suggest that the STK11 SNP represents a risk factor for SPMS in AA patients, and can influence both early (onset) and later (conversion to SPMSS) events. Published by Elsevier B.V.
BACKGROUND: We previously reported that the single nucleotide polymorphism (SNP) rs9282860 in serine threonine kinase 11 (STK11) gene which codes for liver kinase B1 (LKB1) has higher prevalence in White relapsing-remitting multiple sclerosis (RRMS) patients than controls. However it is not known if this SNP is a risk factor for MS in other populations. METHODS: We assessed the prevalence of the STK11 SNP in samples collected from African American (AA) persons with MS (PwMS) and controls at multiple Veterans Affairs (VA) Medical Centers and from a network of academic MS centers. Genotyping was carried out using a specific Taqman assay. Comparisons of SNP frequencies were made using Fisher's exact test to determine significance and odds ratios. Group means were compared by appropriate t-tests based on normality and variance using SPSS V27. RESULTS: There were no significant differences in average age at first symptom onset, age at diagnosis, disease duration, or disease severity between RRMS patients recruited from VAMCs versus non-VAMCs. The SNP was more prevalent in AA than White PwMS, however only in secondary progressive MS (SPMS) patients was that difference statistically significant. AA SPMS patients had higher STK11 SNP prevalence than controls; and in that cohort the SNP was associated with older age at symptom onset and at diagnosis. CONCLUSIONS: The results suggest that the STK11 SNP represents a risk factor for SPMS in AA patients, and can influence both early (onset) and later (conversion to SPMSS) events. Published by Elsevier B.V.
Entities:
Keywords:
African American; Military Veterans; Multiple sclerosis; Progressive form; SNP; race and ethnicity
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