2020
DOI: 10.18502/jovr.v15i2.6730
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Screening for Novel LOX and SOD1 Variants in Keratoconus Patients from Brazil

Abstract: Purpose: To investigate the presence of the variants of lysyl oxygenase (LOX) and superoxide dismutase 1 (SOD1) genes in Brazilian patients with advanced keratoconus. Methods: Donor genomic DNA extracted from blood samples was screened for 5’UTR, exonic LOX, and SOD1 variants in a subset of 26 patients presenting with advanced keratoconus (KISA > 1000% and I–S > 2.0) by Sanger sequencing. The impact of non-synonymous amino acid changes was evaluated by SIFT, PMUT, and PolyPhen algorithms. The Mutat… Show more

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Cited by 10 publications
(2 citation statements)
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References 41 publications
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“…It is mapped within 5q21 region linked to KTCN in Italian population (Bisceglia et al, 2009). While the first mutational screening of LOX has not confirmed the involvement of LOX variants in KTCN, evidence of a genetic association between KTCN and common SNVs located in the LOX gene has been revealed in Caucasian (Bykhovskaya et al, 2012), Czech (Dudakova et al, 2015), Iranian (Hasanian-Langroudi et al, 2015), Brazilian (Gadelha et al, 2020), and Han Chinese (Xu et al, 2020) KTCN patients. In our study, the level of LOX was decreased in KTCN corneas.…”
Section: Discussionmentioning
confidence: 99%
“…It is mapped within 5q21 region linked to KTCN in Italian population (Bisceglia et al, 2009). While the first mutational screening of LOX has not confirmed the involvement of LOX variants in KTCN, evidence of a genetic association between KTCN and common SNVs located in the LOX gene has been revealed in Caucasian (Bykhovskaya et al, 2012), Czech (Dudakova et al, 2015), Iranian (Hasanian-Langroudi et al, 2015), Brazilian (Gadelha et al, 2020), and Han Chinese (Xu et al, 2020) KTCN patients. In our study, the level of LOX was decreased in KTCN corneas.…”
Section: Discussionmentioning
confidence: 99%
“…Manuscript to be reviewed et al, 2012), Czech (Dudakova et al, 2015), Iranian (Hasanian-Langroudi et al, 2015), Brazilian (Gadelha et al, 2020), and Han Chinese (Xu et al, 2020) KTCN patients. In our study, the level of LOX was decreased in KTCN corneas.…”
Section: Discussionmentioning
confidence: 99%