<i>SOD1</i>: A Candidate Gene for Keratoconus

Udar, Nitin; Atilano, Shari R.; Brown, Donald J.; Holguin, B.; Small, Kent W.; Nesburn, Anthony B.; Kenney, M. Cristina

doi:10.1167/iovs.05-1500

Cited by 121 publications

(101 citation statements)

References 54 publications

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“…20 Although previous ex vivo studies have focused on alterations in oxidant and antioxidant components of keratoconic corneas, systemic oxidative status of the patients with keratoconus was not investigated previously. 4,5,21 To our knowledge, our study is the first to determine oxidant and antioxidant status of the patients with keratoconus by measuring serum TAS and TOS levels.…”

Section: Discussionmentioning

confidence: 95%

Increased systemic oxidative stress in patients with keratoconus

Toprak

Küçükatay

Yıldırım

et al. 2013

Eye

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Purpose To establish the effect of systemic oxidative stress on the pathogenesis of keratoconus by measuring serum total oxidant status (TOS) and total antioxidant status (TAS) in patients with keratoconus. Methods Twenty-five patients with keratoconus (keratoconus group) and 25 age-sex-matched healthy subjects (control group) were enrolled in the study. Exclusion criteria were smoking habit, history of any other corneal pathology, systemic disease or inflammation, and current antioxidant or anti-inflammatory therapies. All participants underwent a detailed ophthalmological examination and corneal topography. Serum samples were obtained from all participants. Oxidative stress markers (TAS and TOS) were measured using a commercial kit and oxidative stress index (OSI) was calculated. Results The study comprised 25 patients with keratoconus (mean age of 26.4 ± 1.7 years) and 25 healthy control subjects (mean age of 26.6 ± 1.7 years) (P40.05). The serum TOS and OSI values were significantly higher in patients with keratoconus compared with those of the controls (P ¼ 0.036 and 0.037, respectively). However, serum TAS did not show significant difference between the keratoconus and control groups (P ¼ 0.497). Conclusions The higher levels of serum oxidant status and OSI in patients with keratoconus suggest that systemic oxidative stress might be involved in the pathogenesis of keratoconus.

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Section: Discussionmentioning

confidence: 95%

Increased systemic oxidative stress in patients with keratoconus

Toprak

Küçükatay

Yıldırım

et al. 2013

Eye

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“…For example, the superoxide dismutase isoenzyme 1 encoded by SOD1 located on chromosome 21 was considered an attractive candidate gene because oxidative stress is hypothesised to have a role in the aetiology of KC 57 and there is an increased prevalence of KC in patients with Down syndrome (trisomy 21). 58 Despite the identification of an intronic deletion that segregated with KC in two small families, 58 this finding has not been replicated in additional cohorts, 59,60 and it remains to be established whether variants in this gene are associated with KC. Similarly, other studies have investigated the transcription factor visual system homeobox 1 encoded by VSX1, a gene implicated in posterior polymorphous corneal dystrophy (PPCD), because these PPCD patients have localised steepening of the anterior cornea similar to KC.…”

Section: Geneticsmentioning

confidence: 99%

The pathogenesis of keratoconus

Davidson¹,

Hayes

Hardcastle³

et al. 2013

Eye

274

195

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Keratoconus (KC) is a common degenerative condition that frequently results in visual loss with an onset typically in early adulthood. It is the single most common reason for keratoplasty in the developed world. The cause and underlying pathological mechanism are unknown, but both environmental and genetic factors are thought to contribute to the development of the disease. Various strategies have been employed to address the gap in our understanding of this complex disease, with the expectation that over time more sophisticated therapies will be developed. In this review we summarise our current knowledge of the aetiology and risk factors associated with KC.

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“…Many case-control studies confirmed the association of genetic variability with KC and FECD (Udar et al 2006;Stabuc-Silih et al 2009;Baratz et al 2010;Burdon et al 2011;Czugala et al 2012;Guan et al 2012;Igo et al 2012). Both association and linkage studies showed that a polymorphism in the transcription factor 4 (TCF4) gene was associated with FECD (Baratz et al 2010;Li et al 2011).…”

Section: Introductionmentioning

confidence: 94%

Polymorphisms of the Apoptosis-Related FAS and FAS Ligand Genes in Keratoconus and Fuchs Endothelial Corneal Dystrophy

Synowiec

Wójcik

Izdebska

et al. 2014

Tohoku J. Exp. Med.

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Keratoconus (KC) is a non-inflammatory eye disease characterized by progressive corneal thinning and asymmetrical conical protrusion of the cornea. Fuchs endothelial corneal dystrophy (FECD) is a degenerative, slowly progressive disease of the corneal endothelium that is characterized by alteration in corneal endothelial cell morphology and progressive loss of these cells. They are unrelated eye diseases that may ultimately lead to vision loss. Their pathogenesis is largely unknown, although impaired apoptosis has been suggested to be responsible for both diseases. Therefore, we studied the frequency of the c.-671A>G polymorphism of the apoptosis-related FAS gene and the c.-844T>C polymorphism of the FAS ligand (FASLG) gene in patients with FECD (221 individuals) or KC (264) and controls (300). Each polymorphism is located within the putative cis-acting element of the respective promoter. Risk of KC or FECD was estimated with unconditional multiple logistic regression with adjustment for various factors, including age, sex, allergies, and family history. The T/T genotype and the T allele of the c.-844T>C polymorphism were associated with increased occurrence of KC, while the C allele was associated with decreased KC occurrence. The G allele of the c.-671A>G polymorphism was associated with increased occurrence of FECD, while the A allele was associated with decreased FECD occurrence. The C/C-A/A combined genotype was associated with reduced risk of FECD, whereas the T/T-G/A combined genotype increased risk of KC. In conclusion, variability in the expression of the FAS and FASLG genes may be involved in the pathogenesis of KC and FECD.

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SOD1: A Candidate Gene for Keratoconus

Cited by 121 publications

References 54 publications

Increased systemic oxidative stress in patients with keratoconus

Increased systemic oxidative stress in patients with keratoconus

The pathogenesis of keratoconus

Polymorphisms of the Apoptosis-Related FAS and FAS Ligand Genes in Keratoconus and Fuchs Endothelial Corneal Dystrophy

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