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LOXL1 gene analysis in Turkish patients with exfoliation glaucoma

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Abstract

The purpose of this study is to evaluate whole lysyl oxidase like 1 (LOXL1) gene by sequence analysis in Turkish patients with exfoliation glaucoma (XFG). A total of 48 (35 male, 13 female) patients with XFG were enrolled. Besides routine ophthalmological examination, peripapillary retinal nerve fibre layer (RNFL) analysis with optic coherence tomography was performed. Blood samples of 2 ml with EDTA were obtained and sent to Medical Genetics Department, Molecular Genetics Laboratory for LOXL1 polymorphism (PCR and agarose gel imaging) analysis. The role of the detected changes on disease severity was evaluated. No LOXL1 gene mutations in any of the patients were detected. Three types of single-nucleotide polymorphisms (SNPs) including R141L(rs1048661), A320A(rs41435250), and F184F were detected in 17 (35.3 %) patients. When compared, SNP-positive patients had thinner RNFL than SNP-negative patients (64.5 ± 17.6 and 66.1 ± 20.4 µ, respectively), and SNP-positive patients had higher cupping/disc ratio than SNP-negative patients (0.76 ± 0.2 and 0.70 ± 0.3, respectively). However, both values were not statistically significant (p = 0.966 and p = 0.539, respectively). When compared, R141L-positive patients had significantly thinner cornea thickness (516.11 ± 30.3 µ) than R141L-negative patients (556.69 ± 27.2 µ) (p = 0.004). There was not any statistical significant difference in the means of age, gender, BCVA, MD, PSD, IOP, number of hypotensive agents, and percent of glaucoma surgery (p > 0.05). In this study group of Turkish population, no LOXL1 mutations were found. No associations between the defined SNPs (A320A, R141L and F184F) and the severity of the disease were detected.

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Acknowledgments

This research was supported by Scientific Research Foundation of Ege University School of Medicine (2014-TIP-031). None of the authors have any proprietary interest.

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Authors and Affiliations

  1. Department of Ophthalmology, Faculty of Medicine, Ege University, Goz Hast. AD, Bornova, 35040, Izmir, Turkey

    Suzan Guven Yilmaz, Melis Palamar, Orhan Ilim & Ayse Yagci

  2. Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey

    Huseyin Onay, Ayca Aykut & Feristah Ferda Ozkinay

Authors
  1. Suzan Guven Yilmaz
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  2. Melis Palamar
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  3. Huseyin Onay
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  4. Orhan Ilim
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  6. Feristah Ferda Ozkinay
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  7. Ayse Yagci
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Correspondence to Suzan Guven Yilmaz.

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Yilmaz, S.G., Palamar, M., Onay, H. et al. LOXL1 gene analysis in Turkish patients with exfoliation glaucoma. Int Ophthalmol 36, 629–635 (2016). https://doi.org/10.1007/s10792-016-0174-y

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  • DOI: https://doi.org/10.1007/s10792-016-0174-y

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