A significant difference was observed in the level of MMP-9 activity between different types of cataract. The activity of MMP-9 was highest in eyes with cortical cataract. The level of MMP-9 activity increased with age in the LECs of patients with age-related cataract.
The decrease in the activity of SOD1 isoform in cataractous lenses was associated with the decreased level of mRNA transcripts and their protein expression and was not associated with either modulation in the level of enzyme cofactors or with INDEL variations.
The level of TSOD, Cu/Zn-SOD, and Mn SOD isoenzyme activity decreased with age in LECs of patients with age-related cataract. A significant difference in the level of TSOD and Cu/Zn-SOD isoenzyme activity between different types of cataract was observed. The activity of all 3 SOD isoenzymes was highest in cortical cataracts.
Purpose:
Introns play an important role in gene regulation and expression. Single nucleotide polymorphisms (SNPs) in introns have the potential to cause disease and alter the genotype–phenotype association. Hence, this study aimed to decipher the association of SNPs in the introns of the crystallin gene in congenital cataracts.
Methods:
SNPs in the introns of crystallin gene family –
CRYAA
(rs3788059),
CRYAB
(rs2070894),
CRYBA4
(rs2071861), and
CRYBB2
(rs5752083, rs5996863) – were genotyped in 248 participants consisting of 141 congenital cataracts and 107 healthy controls by allele-specific oligonucleotide polymerase chain reaction method. Around 10% of samples for each SNPs were sequenced to confirm the genotypes. The allele, genotype, and haplotype frequency were evaluated by the SHEsis online tool.
Results:
Using dominant model, the “A” allele of rs3788059 was found to have an increased risk toward congenital cataract development whereas the “G” allele was found to be protective (AA + AG vs. GG; odds ratio [
OR
] 95% confidence interval [CI] = 3.73 [1.71, 8.15],
P
= 0.0009). The “A” allele of both rs2070894 (AA + AG vs. GG;
OR
[95% CI] = 0.49 [0.29, 0.84],
P
= 0.012) and rs5752083 (AA + AC vs. CC; OR [95% CI] = 0.25 [0.08, 0.76],
P
= 0.016) were suggested to have a protective role by the dominant model. The A-C-T haplotype (rs2071861, rs5752083, and rs5996863) was found to be a significant risk factor for the development of congenital cataract.
Conclusion:
Intronic SNPs in crystallin genes may play a role in the predisposition toward congenital cataract. However, the present findings need to be replicated in a large cohort with more number of samples.
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