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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
A whole genome screen for linkage in Turkish multiple sclerosis
M Eraksoy1, M Kurtuncu, G Akman-Demir
1Department of Neurology, Instanbul Faculty of Medicine, Capa, Istanbul, Turkey. meraksoy@turk.net
Journal of Neuroimmunology
|October 25, 2003
Summary
Genetic factors influencing multiple sclerosis (MS) susceptibility may be linked to consanguinity. This study screened Turkish families, identifying potential linkage regions on chromosomes 13q and 18q23 for MS.
Area of Science:
- Genetics
- Human Genetics
- Complex Trait Genetics
Background:
- Recessive genetic factors are often more prevalent in populations with high consanguinity rates.
- Multiple sclerosis (MS) is a complex trait common in Turkey, a population with a high rate of consanguineous marriage.
- Previous genetic studies in Turkey focused on candidate genes, not whole-genome approaches.
Purpose of the Study:
- To conduct a whole-genome screen for linkage in Turkish multiplex families.
- To identify genetic regions associated with multiple sclerosis susceptibility in a population with high consanguinity.
- To leverage the unique genetic characteristics of the Turkish population for MS genetic research.
Main Methods:
- Whole-genome scan for linkage analysis using 392 microsatellite markers.
- Inclusion of 43 Turkish multiplex families affected by multiple sclerosis.
- Parametric analysis using a recessive inheritance model.
Main Results:
- Identified two genomic regions (13q and 18q23) with suggestive linkage to MS.
- Detected an additional 14 regions of potential linkage.
- Parametric analysis under a recessive model enhanced linkage scores in four regions.
Conclusions:
- The study identified potential novel genomic regions linked to multiple sclerosis susceptibility in the Turkish population.
- The findings support the investigation of recessive genetic factors in MS, particularly in consanguineous populations.
- This whole-genome linkage screen provides a foundation for future genetic studies of MS in Turkey.
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