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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
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Microbiota Analysis Using Two-step PCR and Next-generation 16S rRNA Gene Sequencing
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Genomewide admixture study in Mexican Mestizos with multiple sclerosis.

Graciela Ordoñez1, Sandra Romero2, Lorena Orozco2

  • 1National Institute of Neurology and Neurosurgery of Mexico, Insurgentes Sur #3877, Mexico City 14269, Mexico.

Clinical Neurology and Neurosurgery
|January 12, 2015
PubMed
Summary

European ancestry is a risk factor for developing multiple sclerosis (MS) in Mexican Mestizo populations. Indigenous Asian ancestry appears to offer protection against this immune-mediated disease.

Keywords:
Ancestry analysisAssociation studyAutoimmunity genesMexican populationMultiple sclerosis in mestizos

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Area of Science:

  • Genetics
  • Immunology
  • Population Health

Background:

  • Multiple sclerosis (MS) is a complex immune-mediated disease with varying prevalence across ethnic groups.
  • Genetic factors are hypothesized to influence MS susceptibility and ethnic disparities.
  • Understanding genetic ancestry's role in MS is crucial for identifying risk factors.

Purpose of the Study:

  • To investigate genetic ancestry as a potential risk factor for MS in Mexican patients.
  • To identify candidate genes associated with MS susceptibility in this population.
  • To conduct a preliminary genome-wide analysis for MS risk factors.

Main Methods:

  • Genotyping of 29 definitive MS patients and 132 healthy controls using the Affymetrix human 6.0 array.
  • Quality control (QC) procedures followed by ancestry determination.
  • Preliminary case-control association study and imputation analysis in the MHC region.

Main Results:

  • Significant differences in European ancestry proportion between MS cases (33.1%) and controls (25.56%; p=0.0045).
  • Significant association signal in the HLA-DRB region within the MHC on chromosome 6 (p<0.00005).
  • ASF1B identified as a novel candidate gene potentially involved in MS pathogenesis.

Conclusions:

  • European ancestry is suggested as a risk factor for developing MS in the Mexican Mestizo population.
  • Indigenous ancestry of Asian origin may confer a protective effect against MS.
  • Further research with larger cohorts is necessary to validate these findings.