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Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
Published on: July 19, 2019
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Association Between IL7R Promoter Polymorphisms and Multiple Sclerosis in Turkish Population
Hasan Simsek1, Hikmet Geckin2, Nilay Padir Sensoz3
1Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey.
Journal of Molecular Neuroscience : MN
|November 17, 2018
Summary
This study found that IL7R gene promoter polymorphisms are associated with the age of onset in multiple sclerosis (MS) patients. Specific genotypes and alleles indicate increased risk for early-onset MS in the Turkish population.
Area of Science:
- Genetics
- Neuroimmunology
- Epidemiology
Background:
- Multiple sclerosis (MS) is a neurodegenerative disease with complex etiology involving genetic and environmental factors.
- Interleukin-7 receptor (IL7R) gene polymorphisms have been implicated in autoimmune diseases, including MS.
Purpose of the Study:
- To investigate the association between IL7R gene promoter polymorphisms (-449, -504, -1085) and MS in the Turkish population.
- To determine if these polymorphisms influence the age of onset or disease subtypes.
Main Methods:
- Genotyping of IL7R promoter polymorphisms (-449 A/G, -504 T/C, -1085 G/T) in 364 MS patients and 191 healthy controls.
- Analysis of genotype distributions, allele frequencies, and haplotype associations with MS and its subtypes.
- Comparison of disease characteristics with other populations.
Main Results:
- IL7R -449 GA and AA genotypes were risk factors for age of onset of MS (AOMS) and early-onset MS (EOMS), respectively.
- The IL7R -504 TC genotype was significantly associated with MS.
- The ACG haplotype was associated with susceptibility to MS and relapsing-remitting MS (RRMS), while ACG, ATT, and GTG haplotypes showed protective effects in EOMS.
- Increased frequency of secondary progressive MS (SPMS) was observed in Turkish males.
Conclusions:
- IL7R promoter polymorphisms are significantly associated with the age of onset of MS in the Turkish population.
- Specific IL7R polymorphisms and haplotypes may influence MS susceptibility and disease progression.
- Observed differences in RRMS and SPMS frequencies warrant further investigation.
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