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Nilgun Yildirim, Yetkin Yaz, Oguz Cilingir, Fez an Sahin, Zafer Yüksel; Association of LOXL1 Gene Polymorphisim in Turkish Population with Pseudoexfoliation Syndrome and Glaucoma. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1596.
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© ARVO (1962-2015); The Authors (2016-present)
To investigate the three single nucleotid polymorphisms (SNPs) (rs3825942, rs1048661 and rs2165241) of LOXL1 gene in a Turkish population with pseudoexfoliation syndrome (PES) and pseudoexfoliation glucoma (PEG) cases.
DNA was obtained from blood samples of 48 PES, 58 PEG, and 171 control cases, after then three SNPs (rs3825942, rs1048661, rs2165241) of LOXL1 gene was investigated with RT-PCR; a probe-based genotyping method.
Results: All three SNPs of LOXL1 gene in PES and PEG cases were more prevalent than healty individuals (For PES rs3825942 p= 3.54x10-6 OR=∞, rs1048661 p= 0.008 OR= 2.18 andrs2165241 p= 8.69x10-9 OR= 4.30. For PEG rs3825942 p= 3.41x10-7 OR= ∞ , rs1048661 p= 1.75x10-5 OR= 3.78 and rs2165241 p=3.85x10-11 OR= 4.90). No significant association was found between none of these SNPs with PES and PEG. rs3825942 SNP had 3-fold increased risk in men (p= 6.78x10-5 OR= 3.202). rs3825942 SNP was more valuable for distinguishing pseudoexfoliative cases from healthy individuals.
In a Turkish subpopulation, the LOXL1 gene polymorphism of PES and PEG were different from healty individuals, and genetic variation was similar to European and American populations.
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