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Article Abstract
Unlabelled: Collagen sub-types have an important role in corneal structure and are reported to be an important genetic predictor for keratoconus (KC) development, therefore we assessed the association of collagen subtypes by screening non-synonymous polymorphisms of and in South-Asian (Pakistani) patients.
Methods: A total of 257 KC sporadic cases, gender and ethnicity matched 253 control individuals were screened for three non-synonymous single nucleotide polymorphisms (SNPs) rs55703767and rs10178458 in and rs2229814 and one synonymous SNP rs2228555 in . The genotyping was done by Competitive Allele specific polymerase chain reaction (PCR) and the data were analyzed statistically.
Results: Among the studied SNPs, the rs55703767 GT genotype (dominant model (DM): odds ratio (OR) = 0.243, (95 %CI) = 0.16-0.36, p=>0.0001), and allele-G (OR = 0.35, 95 %CI = 0.26-0.48, p < 0.000)), showed protective association against KC development. While rs10178458 CT genotype (DM: OR = 2.11(95 %CI = 1.16-3.85), rs2229814 TT genotype (RM: OR = 147.778(95 %CI = 20.401-1070.439), (p > 0.05) and allele-T (OR = 2.351(95 %CI = 1.826-3.028), (p > 0.05); rs2228555 AG genotype (DM: OR = 2.370(95 %CI = 1.594-3.524) (<0.0001) and GG genotype (RM: OR = 2.347(95 %CI = 1.587-3.472), (p < 0.0001); and allele-G (OR = 2.024(95 %CI = 1.577-2.597), (p > 0.0001) were observed to be disease associated.
Conclusion: rs10178458 and SNPs rs2229814 and rs2228555 were found to be pathogenic for KC, whereas rs55703767 was found to play a protective role against KC development in South-Asian (Pakistani) Cohort.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9694102 | PMC |
| http://dx.doi.org/10.1016/j.sjbs.2022.103503 | DOI Listing |
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