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Mutations of FAM111B gene are not associated with Systemic Sclerosis
A Gcelu1, G Deshpande2, G Shaboodien2
1Division of Rheumatology, Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa.
Scientific Reports
|October 31, 2018
Summary
Genetic analysis of the FAM111B gene in Systemic sclerosis (SSc) patients revealed no significant mutations. This study found no association between FAM111B gene mutations and SSc in the studied cohort.
Area of Science:
- Genetics
- Rheumatology
- Fibrotic Diseases
Background:
- Systemic sclerosis (SSc) is a fibrotic disease with an unclear genetic basis.
- Mutations in FAM111B cause a similar fibrotic condition, suggesting FAM111B as a candidate gene for SSc.
Purpose of the Study:
- To investigate the association between FAM111B gene mutations and Systemic sclerosis (SSc).
Main Methods:
- DNA analysis of 131 SSc patients using High-Resolution Melt and Sanger sequencing.
- Comparison of identified variants with ethnically-matched controls and public databases (1000 Genomes, ExAC).
Main Results:
- Two FAM111B variants were identified: one missense variant of unknown significance and one known polymorphism.
- The rare variant found in an SSc patient had no functional impact on the FAM111B gene.
Conclusions:
- FAM111B gene mutations are not associated with Systemic sclerosis (SSc) in this South African cohort.
- The study did not find evidence to support FAM111B as a causative gene for SSc.
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