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Multiple Gene Polymorphisms Associated with Exfoliation Syndrome in the Uygur Population
Yi-Nu Ma1, Ting-Yu Xie1, Xue-Yi Chen1
1Department of Ophthalmology, The First Affiliated Hospital of Xinjiang Medical University, Urumchi 830011, Xinjiang, China.
Journal of Ophthalmology
|June 14, 2019
Summary
Genetic variations in LOXL1, including rs41435250 (risk) and rs893818 (protective), are associated with exfoliation syndrome/glaucoma in the Uygur population. ATXN2 and TBC1D21 gene variants also show links to the condition.
Area of Science:
- Ophthalmology
- Genetics
- Human Disease
Background:
- Previous studies linked specific LOXL1 gene single-nucleotide polymorphisms (SNPs) to exfoliation syndrome (XFS) and exfoliation glaucoma (XFG).
- This study aimed to identify additional SNPs potentially influencing XFS/XFG development.
Purpose of the Study:
- To investigate the association of various gene SNPs with XFS/XFG in the Uygur population.
- To identify novel genetic risk and protective factors for XFS/XFG.
Main Methods:
- Direct sequencing was used to analyze alleles and genotypes of multiple genes, including LOXL1, TBC1D21, and ATXN2.
- A cohort of 216 Uygur patients with XFS/XFG and 297 healthy Uygur volunteers was studied.
Main Results:
- The LOXL1 rs41435250 (allele G) was identified as a risk factor, while rs893818 (allele G) was a protective factor for XFS/XFG.
- Significant associations were found for ATXN2 rs7137828 (genotype CC) and LOXL1 rs893818 (genotype GG) and rs41435250 (genotype TT) with XFS/XFG.
- Specific LOXL1 haplotypes (G-A/T-G/G-G) were significantly associated with XFS/XFG.
Conclusions:
- LOXL1 SNPs rs41435250 and rs893818 play significant roles as risk and protective factors, respectively, in Uygur XFS/XFG patients.
- SNPs rs16958445 in TBC1D21 and rs7137828 in ATXN2 are also implicated in the pathogenesis of XFS/XFG.
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