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Genetic mechanisms seem to be involved in glaucoma development. Lysyl Oxidase Like 1 (LOXL1) has been described in previous studies as a predictor factor for exfoliation glaucoma. The present article studied the association between three single nucleotide polymorphisms (SNPs) in the LOXL1 gene and the presence of exfoliation glaucoma in Southwestern Sweden. Methods: Case-control study for genetic association. In total, 136 patients and 1011 controls were included in the study. Patients with exfoliation glaucoma were recruited at the Eye Department of Sahlgrenska University Hospital and Skaraborgs Hospital, Sweden. Controls were recruited from the Gothenburg H70 Birth Cohort Study. Three different SNPs were genotyped: LOXL1_rs3825942, LOXL1_rs2165241 and LOXL1_rs1048661. Results: The distribution of allele frequencies was significantly different between controls and glaucoma patients; for rs3825942 (p = 2 \u00d7 10\u221212), for rs2165241 (p = 3 \u00d7 10\u221216) and for rs1048661 (p = 2 \u00d7 10\u22126). Logistic regression analyses using an additive genetic model, adjusted for sex and age, also showed associations between the studied SNPs and glaucoma (p = 9 \u00d7 10\u22126; p = 2 \u00d7 10\u221214; p = 1 \u00d7 10\u22124). Conclusion: A strong association was found between allele frequencies of three different SNPs (LOXL1_rs3825942, LOXL1_rs2165241, and LOXL1_rs1048661) and the presence of exfoliation glaucoma in a Southwestern Swedish population.<\/jats:p>","DOI":"10.3390\/genes12091384","type":"journal-article","created":{"date-parts":[[2021,9,6]],"date-time":"2021-09-06T13:15:56Z","timestamp":1630934156000},"page":"1384","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Association of Single Nucleotide Polymorphisms Located in LOXL1 with Exfoliation Glaucoma in Southwestern Sweden"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2556-7578","authenticated-orcid":false,"given":"Marcelo","family":"Ayala","sequence":"first","affiliation":[{"name":"Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, 40530 Gothenburg, Sweden"},{"name":"Eye Department, Region V\u00e4stra G\u00f6taland, Skaraborg Hospital\/Sk\u00f6vde, 54142 Sk\u00f6vde, Sweden"},{"name":"Department of Clinical Neuroscience, Karolinska Institute, 17165 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine","family":"Zetterberg","sequence":"additional","affiliation":[{"name":"Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, 40530 Gothenburg, Sweden"},{"name":"Department of Ophthalmology, Region V\u00e4stra G\u00f6taland, Sahlgrenska University Hospital, 43130 M\u00f6lndal, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingmar","family":"Skoog","sequence":"additional","affiliation":[{"name":"Region V\u00e4stra G\u00f6taland, Sahlgrenska University Hospital, Psychiatry, Cognition and Old Age Psychiatry Clinic, 40530 Gothenburg, Sweden"},{"name":"Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, Centre for Ageing and Health (AGECAP) University of Gothenburg, 40530 Gothenburg, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7182-8417","authenticated-orcid":false,"given":"Anna","family":"Zettergren","sequence":"additional","affiliation":[{"name":"Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, Centre for Ageing and Health (AGECAP) University of Gothenburg, 40530 Gothenburg, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,9,3]]},"reference":[{"key":"ref_1","first-page":"844","article-title":"Global data on visual impairment in the year 2002","volume":"82","author":"Resnikoff","year":"2004","journal-title":"Bull. World Health Organ."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1001\/archopht.121.1.48","article-title":"Factors for glaucoma progression and the effect of treatment: The early manifest glaucoma trial","volume":"121","author":"Leske","year":"2003","journal-title":"Arch. Ophthalmol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1111\/j.1600-0420.2007.00980.x","article-title":"Incidence and prevalence of pseudoexfoliations and open-angle glaucoma in northern Sweden: II. Results after 21 years of follow-up","volume":"85","author":"Stenlund","year":"2007","journal-title":"Acta Ophthalmol. Scand."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0039-6257(00)00196-X","article-title":"Exfoliation syndrome","volume":"45","author":"Ritch","year":"2001","journal-title":"Surv. Ophthalmol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1097\/ICU.0000000000000135","article-title":"Exfoliation syndrome: A disease with an environmental component","volume":"26","author":"Dewundara","year":"2015","journal-title":"Curr. Opin. Ophthalmol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"S1","DOI":"10.1097\/IJG.0000000000000119","article-title":"Ocular and Systemic Manifestations of Exfoliation Syndrome","volume":"23","author":"Ritch","year":"2014","journal-title":"J. Glaucoma"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"e505","DOI":"10.1111\/aos.12918","article-title":"Exfoliation syndrome: Assembling the puzzle pieces","volume":"94","author":"Pasquale","year":"2016","journal-title":"Acta Ophthalmol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"R21","DOI":"10.1093\/hmg\/ddx184","article-title":"Genetics of glaucoma","volume":"26","author":"Wiggs","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"15466","DOI":"10.1038\/ncomms15466","article-title":"Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1","volume":"8","author":"Pasutto","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.exer.2017.05.002","article-title":"Major review: Molecular genetics of primary open-angle glaucoma","volume":"160","author":"Liu","year":"2017","journal-title":"Exp. Eye Res."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1038\/ng.3875","article-title":"Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci","volume":"49","author":"Aung","year":"2017","journal-title":"Nat. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1126\/science.1146554","article-title":"Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma","volume":"317","author":"Thorleifsson","year":"2007","journal-title":"Science"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1007\/s10654-018-0459-8","article-title":"The Gothenburg H70 Birth cohort study 2014\u201316: Design, methods and study population","volume":"34","author":"Sterner","year":"2019","journal-title":"Eur. J. Epidemiol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1111\/aos.14341","article-title":"Vision-related quality of life and visual function in a 70-year-old Swedish population","volume":"98","author":"Ahlner","year":"2020","journal-title":"Acta Ophthalmol."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"(2017). European Glaucoma Society Terminology and Guidelines for Glaucoma, 4th Edition\u2014Chapter 2: Classification and terminologySupported by the EGS Foundation: Part 1: Foreword; Introduction; Glossary; Chapter 2 Classification and Terminology. Br. J. Ophthalmol., 101, 73\u2013127.","DOI":"10.1136\/bjophthalmol-2016-EGSguideline.002"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1097\/APO.0000000000000106","article-title":"Clinical Signs and Characteristics of Exfoliation Syndrome and Exfoliative Glaucoma in Northern China","volume":"4","author":"Ren","year":"2015","journal-title":"Asia-Pac. J. Ophthalmol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1111\/j.1600-0420.2007.00992.x","article-title":"Incidence and prevalence of pseudoexfoliation and open-angle glaucoma in northern Sweden: I. Baseline report","volume":"85","year":"2007","journal-title":"Acta Ophthalmol. Scand."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/jhg.2009.28","article-title":"Association of LOXL1 gene with Finnish exfoliation syndrome patients","volume":"54","author":"Forsman","year":"2009","journal-title":"J. Hum. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"4238","DOI":"10.1167\/iovs.14-13991","article-title":"Association ofLOXL1Polymorphisms With Pseudoexfoliation, Glaucoma, Intraocular Pressure, and Systemic Diseases in a Greek Population. The Thessaloniki Eye Study","volume":"55","author":"Anastasopoulos","year":"2014","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_20","first-page":"25","article-title":"Association of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population","volume":"37","year":"2016","journal-title":"Ophthalmic Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1097\/IJG.0000000000000128","article-title":"LOXL1 Gene Polymorphism with Exfoliation Syndrome\/Exfoliation Glaucoma: A Meta-Analysis","volume":"25","author":"Wang","year":"2016","journal-title":"J. Glaucoma"},{"key":"ref_22","first-page":"705","article-title":"Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population","volume":"16","author":"Williams","year":"2010","journal-title":"Mol. Vis."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1097\/ICU.0000000000000736","article-title":"Pseudoexfoliation syndrome and glaucoma: From genes to disease mechanisms","volume":"32","author":"Khor","year":"2021","journal-title":"Curr. Opin. Ophthalmol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"107818","DOI":"10.1016\/j.exer.2019.107818","article-title":"The role of lysyl oxidase-like 1 (LOXL1) in exfoliation syndrome and glaucoma","volume":"189","author":"Zenkel","year":"2019","journal-title":"Exp. Eye Res."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/S0945-053X(98)90012-9","article-title":"Lysyl oxidase: Properties, regulation and multiple functions in biology","volume":"16","author":"Kagan","year":"1998","journal-title":"Matrix Biol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"S24","DOI":"10.1097\/IJG.0000000000000902","article-title":"Extracellular Matrix Regulation and Dysregulation in Exfoliation Syndrome","volume":"27","author":"Zenkel","year":"2018","journal-title":"J. Glaucoma"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"S29","DOI":"10.1097\/IJG.0000000000000917","article-title":"Composition of Exfoliation Material","volume":"27","author":"Challa","year":"2018","journal-title":"J. Glaucoma"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1097\/IJG.0000000000001475","article-title":"Prevalence of Pseudoexfoliation Glaucoma Risk\u2013associated Variants Within Lysyl Oxidase\u2013like 1 in an Irish Population","volume":"29","author":"Eivers","year":"2020","journal-title":"J. Glaucoma"},{"key":"ref_29","first-page":"1827","article-title":"Association of LOXL1 Gene Polymorphisms in Exfoliation Glaucoma Patients","volume":"48","author":"Taghavi","year":"2020","journal-title":"Iran. J. Public Health"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"215","DOI":"10.4274\/tjo.83797","article-title":"Three Single Nucleotide Polymorphisms of LOXL1\u2019 in a Turkish Population with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma","volume":"48","author":"Yaz","year":"2018","journal-title":"Turk. J. Ophthalmol."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/9\/1384\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:56:10Z","timestamp":1760165770000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/9\/1384"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,3]]},"references-count":30,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021,9]]}},"alternative-id":["genes12091384"],"URL":"https:\/\/doi.org\/10.3390\/genes12091384","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,3]]}}}