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S.-H. Kim, J.-W. Mok, C.-K. Joo; Genotyping of the IL1A Gene in Korean Patients With Keratoconus. Invest. Ophthalmol. Vis. Sci. 2007;48(13):1334.
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To investigate whether the interleukin 1 alpha (IL1A) gene located on 2q14 is as a potential candidate susceptibility gene for Korean patient with keratoconus.
Total genomic DNA was extracted from blood samples of 95 unrelated patients with keratoconus visited the Department of Ophthalmology at the Catholic University Medical Center. We analyzed the three SNPs related to the transcription of IL1 A by polymerase chain reaction - restriction fragment length polymorphisms; DpnII RFLP for rs1800587 in promoter, Fnu4HI for rs17561 in exon 5 and BstY I for rs2071376 in intron 6. Moreover, we constructed SNP haplotypes for association IL1A gene using HAPLOVIEW package. And seventy subjects without keratoconus were selected from the general population as the normal control.
We genotyped three SNPs related to transcription of IL1A in Korean patients with keratoconus. In rs17561 of exon 5, the allele frequency of keratoconus patients (*T = 0.25) was higher than that of controls (*T = 0.17). But it was not shown statistical significance. Another two SNPs, rs1800587 in promoter and rs2071376 in intron 6, there were no statistically significant differences between keratoconus patients and controls. Although the haplotype constructed two SNPs, rs1800587 and rs17561, haplotype-specific analysis revealed no significant association between keratoconus patients and controls.
Although we analyzed three SNPs of IL1A to investigate possibility as candidate susceptibility gene in Korean patients with keratoconus, we found no statistical significance between keratoconus patients and controls. So, it is suggested that IL1A is not play a role as potential susceptibility gene for keratoconus.
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