Liver kinase B1 rs9282860 polymorphism and risk for multiple sclerosis in White and Black Americans

Abstract We previously reported that a single nucleotide polymorphism (SNP) rs9282860 in serine threoninekinase 11 (STK11) gene which codes for liver kinase B1 (LKB1) has higher prevalence in Whiterelapsing-remitting multiple sclerosis (RRMS) patients than controls. To determine if this SNP is a riskfactor for MS in other populations, we assessed its prevalence in samples collected from AfricanAmerican (AA) persons with MS (PwMS) and controls at multiple Veterans Affairs (VA) Medical Centersand from a network of academic MS centers. There were no significant differences in average age atfirst symptom onset, diagnosis, disease duration, or disease severity between RRMS patients recruitedfrom VAMCs versus non-VAMCs. The SNP was more prevalent in AA than White PwMS, however onlyin secondary progressive MS (SPMS) patients was that difference statistically significant. AA SPMSpatients had higher STK11 SNP prevalence than non-MS controls; and in that cohort the SNP wasassociated with older age at symptom onset and at diagnosis. The results suggest that the STK11 SNPrepresents a risk factor for SPMS in AA patients, and is associated with an older age of symptom onsetand diagnosis.

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The Factors Associated With Olfactory Dysfunction in Patients with Multiple Sclerosis

Basic and Clinical Neuroscience Journal ◽

10.32598/bcn.12.1.1368.1 ◽

2021 ◽

Vol 12 (1) ◽

pp. 89-94

Author(s):

Mostafa Almasi ◽

◽

Mohammad Ali Sahraian ◽

Fahimeh Haji Akhoundi ◽

Hamid Reza Ezzati ◽

...

Keyword(s):

Multiple Sclerosis ◽

Disease Duration ◽

Admission Rate ◽

Cross Sectional Study ◽

Olfactory Dysfunction ◽

Olfactory Function ◽

Older Age ◽

Cross Sectional ◽

Hospital Admission Rate ◽

Secondary Progressive

Introduction: An impaired sense of smell has a remarkable impact on the quality of life. It is seen in a variety of neurodegenerative diseases such as Parkinson disease. In this study, we assessed the olfactory function in patients with Multiple Sclerosis (MS) by Sniff Magnitude Test (SMT). Methods: A cross-sectional study was conducted on 48 patients with MS. A questionnaire, including demographic and clinical variables, was completed for each patient. The SMT was used for the evaluation of olfactory function. Results: Olfactory dysfunction was found in 14.6% of patients (8.3% hyposmia and 6.3% anosmia). Older age, longer disease duration, higher hospital admission rate, lower mini-mental status examination score, and secondary progressive course of MS were significantly related to olfactory dysfunction. Conclusion: Secondary progressive MS and markers of advanced disease toward neurodegenerative phase (including older age, longer disease duration, and lower cognitive function) can be associated with olfactory dysfunction in MS patients.

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A Single-Nucleotide Polymorphism in Serine-Threonine Kinase 11, the Gene Encoding Liver Kinase B1, Is a Risk Factor for Multiple Sclerosis

ASN NEURO ◽

10.1177/1759091415568914 ◽

2015 ◽

Vol 7 (1) ◽

pp. 175909141556891 ◽

Cited By ~ 5

Author(s):

Anne I. Boullerne ◽

Demetrios Skias ◽

Elizabeth M. Hartman ◽

Fernando D. Testai ◽

Sergey Kalinin ◽

...

Keyword(s):

Multiple Sclerosis ◽

Single Nucleotide Polymorphism ◽

Risk Factor ◽

Nucleotide Polymorphism ◽

Serine Threonine Kinase ◽

Gene Encoding ◽

Single Nucleotide ◽

Threonine Kinase ◽

Liver Kinase B1

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Ovulatory response to metformin appears to be dependent upon a single nucleotide polymorphism in the STK11 gene.

Inpharma Weekly ◽

10.2165/00128413-200816370-00043 ◽

2008 ◽

Vol &NA; (1637) ◽

pp. 17

Author(s):

&NA;

Keyword(s):

Single Nucleotide Polymorphism ◽

Nucleotide Polymorphism ◽

Stk11 Gene ◽

Single Nucleotide

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F.21. A Single Nucleotide Polymorphism within the Interleukin-7 Receptor Alpha Promoter Influences Recent Thymic Emigrants in Multiple Sclerosis

Clinical Immunology ◽

10.1016/j.clim.2009.03.289 ◽

2009 ◽

Vol 131 ◽

pp. S99-S100

Author(s):

Bieke Broux ◽

Niels Hellings ◽

Koen Venken ◽

Bart Van Wijmeersch ◽

P. Stinissen

Keyword(s):

Multiple Sclerosis ◽

Single Nucleotide Polymorphism ◽

Nucleotide Polymorphism ◽

Recent Thymic Emigrants ◽

Single Nucleotide ◽

Receptor Alpha ◽

Interleukin 7

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Infectious mononucleosis-linked HLA class I single nucleotide polymorphism is associated with multiple sclerosis

Multiple Sclerosis Journal ◽

10.1177/1352458510376778 ◽

2010 ◽

Vol 16 (11) ◽

pp. 1303-1307 ◽

Cited By ~ 3

Author(s):

Naghmeh Jafari ◽

Linda Broer ◽

Ilse A Hoppenbrouwers ◽

Cornelia M van Duijn ◽

Rogier Q Hintzen

Keyword(s):

Multiple Sclerosis ◽

Single Nucleotide Polymorphism ◽

Infectious Mononucleosis ◽

Risk Allele ◽

Hla Class I ◽

Class I ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Major Class ◽

A Minor

Background: Multiple sclerosis is a presumed autoimmune disease associated with genetic and environmental risk factors such as infectious mononucleosis. Recent research has shown infectious mononucleosis to be associated with a specific HLA class I polymorphism. Objectives: Our aim was to test if the infectious mononucleosis-linked HLA class I single nucleotide polymorphism (rs6457110) is also associated with multiple sclerosis. Methods: Genotyping of the HLA-A single nucleotide polymorphism rs6457110 using TaqMan was performed in 591 multiple sclerosis cases and 600 controls. The association of multiple sclerosis with the HLA-A single nucleotide polymorphism was tested using logistic regression adjusted for age, sex and HLA-DRB1*1501. Results: HLA-A minor allele (A) is associated with multiple sclerosis (OR = 0.68; p = 4.08 × 10 -5). After stratification for HLA-DRB1*1501 risk allele (T) carrier we showed a significant OR of 0.70 ( p = 0.003) for HLA-A. Conclusions: HLA class I single nucleotide polymorphism rs6457110 is associated with infectious mononucleosis and multiple sclerosis, independent of the major class II allele, supporting the hypothesis that shared genetics may contribute to the association between infectious mononucleosis and multiple sclerosis.

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Evidence for association of chromosome 10 open reading frame (C10orf27) gene polymorphisms and multiple sclerosis

Multiple Sclerosis Journal ◽

10.1177/1352458507083780 ◽

2008 ◽

Vol 14 (3) ◽

pp. 412-414 ◽

Cited By ~ 5

Author(s):

Robert Goertsches ◽

Sergio E Baranzini ◽

Carlos Morcillo ◽

Carlos Nos ◽

Montse Camiña ◽

...

Keyword(s):

Multiple Sclerosis ◽

Gene Polymorphisms ◽

Disease Susceptibility ◽

Brain Lesions ◽

Open Reading Frame ◽

Healthy Controls ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Reading Frame ◽

Relapsing Remitting

A recent association study has provided evidence that chromosome 10q22.1 may contain candidate genes for multiple sclerosis (MS). We analysed two intronic and a non-synonymous single nucleotide polymorphism (SNP) of the C10orf27 gene in 571 patients with MS (relapsing remitting and primary progressive) and healthy controls. Adjusted comparisons revealed significant association with disease susceptibility for one intronic SNP in RRMS individuals and the amino acid modifying SNP for PPMS cases; the latter may also contribute to faster disease progression. Transcript expression in brain lesions from MS patients was increased. These findings suggest C10orf27 as a candidate gene for MS susceptibility and pathogenesis. Multiple selerosis 2008; 14: 412—414. http://msj.sagepub.com

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HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica

Multiple Sclerosis Journal ◽

10.1177/1352458510374340 ◽

2010 ◽

Vol 16 (8) ◽

pp. 981-984 ◽

Cited By ~ 13

Author(s):

Marcelo Matiello ◽

Janet Schaefer-Klein ◽

Doralina G Brum ◽

Elizabeth J Atkinson ◽

Orhun H Kantarci ◽

...

Keyword(s):

Multiple Sclerosis ◽

Single Nucleotide Polymorphism ◽

Association Study ◽

Neuromyelitis Optica ◽

Genetic Association Study ◽

Case Control ◽

Small Populations ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Nuclease Assay

Background: Association of the HLA-DRB1*1501 allele with multiple sclerosis is well established, but its association with neuromyelitis optica has only been evaluated in small populations. Methods: We performed a case-control genetic association study to evaluate the association of HLA-DRB1*1501 with neuromyelitis optica. The single nucleotide polymorphism rs3135388, which tags HLA-DRB1*1501, was genotyped in 164 patients with neuromyelitis optica, 220 patients with multiple sclerosis and 959 controls matched for age, gender and ethnicity. Genotyping for rs3135388 was performed by Taqman-based 5' nuclease assay. Results: Rs3135388*A was positively associated with multiple sclerosis (OR = 3.93; 95% CI = 2.58—5.97, p = 1.18 × 10-09) but negatively associated with NMO (OR = 0.57; 95% CI = 0.36—0.91, p = 0.01). Conclusions: Multiple sclerosis and neuromyelitis optica differ in their associations with DRB1*1501.

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