Analysis of the SOD1 Gene in Keratoconus Patients from Saudi Arabia
Abstract
We investigated Saudi patients with familial and sporadic Keratoconus for mutations in the Superoxide dismutase 1, soluble (SOD1) gene. We sequenced the entire coding region, exon-intron boundaries and intron 2 encompassing a 7-bp deletion in clinically confirmed Keratoconus patients (n = 55) and 100 ethnically matched healthy controls. All cases and controls were unrelated. Sequencing the SOD1 gene revealed the presence of four nucleotide changes and all were non-coding. Those were g.12035 C > A; g.13978 T > A; g.12037 G > A and g.11931 A > C with similar frequencies in patients and controls. All four sequence changes were benign polymorphisms with no apparent clinical significance. Additionally, the 7-bp deletion in intro2 reported previously, were not detected in any of our Keratocnus cohort. In our Keratoconus cohort, no pathogenic SOD1 mutation(s) was identified.
How strong is the evidence?
Evidence Hub reads this as a cohort study, done in people. Its evidence level is 3 of 5 (Moderate · trial / cohort / secondary analysis). Trials without a large randomized design, cohorts and secondary analyses give moderate evidence. Reported size: 55 participants or records.
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