{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T17:39:47Z","timestamp":1791308387800,"version":"4.3.1"},"reference-count":41,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T00:00:00Z","timestamp":1714694400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Optic neuritis (ON) is a condition marked by optic nerve inflammation due to various potential triggers. Research indicates a link between telomeres and inflammation, as studies demonstrate that inflammation can lead to increased telomere shortening. Aim: We aimed to determine the associations of telomere-related telomeric repeat binding factor 1 (TERF1) rs1545827, rs10107605, and telomeric repeat binding factor 2 (TERF2) rs251796 polymorphisms and relative leukocyte telomere length (LTL) with the occurrence of ON. Methods: In this research, a total of 73 individuals diagnosed with optic neuritis (ON) were studied and the control group included 170 individuals without any health issues. The DNA samples were obtained from peripheral blood leukocytes, which were purified using the DNA salting-out technique. Real-time polymerase chain reaction (RT-PCR) assessed single-nucleotide polymorphisms (SNPs) and relative leukocyte telomere lengths (LTL). The data obtained were processed and analyzed using the \u201cIBM SPSS Statistics 29.0\u201d program. Results: Our study revealed the following results: in the male group, TERF2 rs251796 (AA, AG, and TT) statistically significantly differed between the long and short telomere group, with frequencies of 65.7%, 22.9%, and 2.0% in long telomeres, compared to 35.1%, 56.8%, and 8.1% in the short telomere group (p = 0.013). The TERF2 rs251796 CT genotype, compared to CC, under the codominant genetic model, was associated with 4.7-fold decreased odds of telomere shortening (p = 0.005). Meanwhile, CT+TT genotypes, compared to CC under the dominant genetic model, were associated with 3.5-fold decreased odds of telomere shortening (p = 0.011). Also, the CT genotype, compared to CC+TT, under the overdominant genetic model, was associated with 4.4-fold decreased odds of telomere shortening (p = 0.004). Conclusions: The current evidence may suggest a protective role of TERF2 rs251796 in the occurrence of ON in men.<\/jats:p>","DOI":"10.3390\/jcm13092694","type":"journal-article","created":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T09:39:47Z","timestamp":1714729187000},"page":"2694","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Investigating the Relationship between Telomere-Related Gene Variants and Leukocyte Telomere Length in Optic Neuritis Patients"],"prefix":"10.3390","volume":"13","author":[{"given":"Monika","family":"Duseikaite","sequence":"first","affiliation":[{"name":"Laboratory of Ophthalmology, Institute of Neuroscience, Lithuanian University of Health Sciences, Eiveni\u0173 Street 2, LT-50161 Kaunas, Lithuania"},{"name":"Faculty of Pharmacy, Lithuanian University of Health Sciences, Sukil\u0117li\u0173 Pr. 13, LT-50166 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7469-8825","authenticated-orcid":false,"given":"Greta","family":"Gedvilaite","sequence":"additional","affiliation":[{"name":"Laboratory of Ophthalmology, Institute of Neuroscience, Lithuanian University of Health Sciences, Eiveni\u0173 Street 2, LT-50161 Kaunas, Lithuania"},{"name":"Medical Faculty, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulius","family":"Mikuzis","sequence":"additional","affiliation":[{"name":"Medical Faculty, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juste","family":"Andrulionyte","sequence":"additional","affiliation":[{"name":"Medical Faculty, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loresa","family":"Kriauciuniene","sequence":"additional","affiliation":[{"name":"Laboratory of Ophthalmology, Institute of Neuroscience, Lithuanian University of Health Sciences, Eiveni\u0173 Street 2, LT-50161 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasa","family":"Liutkeviciene","sequence":"additional","affiliation":[{"name":"Laboratory of Ophthalmology, Institute of Neuroscience, Lithuanian University of Health Sciences, Eiveni\u0173 Street 2, LT-50161 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"5113","DOI":"10.1007\/s00415-023-11920-x","article-title":"An update on optic neuritis","volume":"270","author":"Kraker","year":"2023","journal-title":"J. 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