Abstract
BackgroundWe 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. MethodsWe 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. ResultsThere 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. ConclusionsThe 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.
Highlights
Genetic studies have identified over 200 single nucleotide polymorphisms (SNPs) associated with an increased risk of multiple sclerosis (MS) [1,2,3,4,5]; the majority of studies were done in persons of European ancestry
Our findings show that the serine threonine kinase 11 (STK11) SNP is a risk factor for AA secondary progressive MS (SPMS) patients; and in contrast to White patients with MS (PwMS) where the age at first symptom onset and diagnosis is younger in SNP carriers, in AA PwMS it is associated with older ages
VA Longitudinal MS Study (VALOMS) SPMS patients tended to have an older age at initial exam than relapsing-remitting multiple sclerosis (RRMS) patients, which was significantly different between White SPMS and RRMS females patients (52.6±1.8 vs 42.8±2.8)
Summary
Genetic studies have identified over 200 single nucleotide polymorphisms (SNPs) associated with an increased risk of multiple sclerosis (MS) [1,2,3,4,5]; the majority of studies were done in persons of European ancestry. We previously reported that a single nucleotide polymorphism (SNP) in the gene STK11 (serinethreonine kinase 11), which encodes LKB1 (liver kinase B1), is a risk factor in White RR (relapsingremitting) patients with MS (PwMS), with an odds ratio (OR) of 1.66 in females [17]. LKB1 is a ubiquitously expressed kinase, which phosphorylates and activates multiple downstream kinases [18] regulating cell functions including metabolism, migration, and proliferation. Alterations in LKB1 activity may account for the STK11 SNP being a risk factor for MS
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