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Takenori Mikami, Akira Meguro, Takeshi Teshigawara, Masaki Takeuchi, Misaki Ishioka, Miki Iwasaki, Kazumi Fukagawa, Kenji Konomi, Jun Shimazaki, Nobuhisa Mizuki; IL1B promoter polymorphisms are associated with keratoconus in a Japanese population. Invest. Ophthalmol. Vis. Sci. 2013;54(15):5302.
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© ARVO (1962-2015); The Authors (2016-present)
Previous study reported that the polymorphisms of interleukin 1 alpha (IL1A) and IL1B gene regions were associated with keratoconus in a Korean population. In this study, we investigated whether the IL1A and IL1B polymorphisms are associated with keratoconus in a Japanese population.
One hundred and sixty-nine Japanese patients with keratoconus and 390 Japanese healthy controls were recruited. We genotyped one IL1A single-nucleotide polymorphism (SNP) (rs2071376) and two IL1B SNPs (rs1143627 and rs16944), and the frequencies of alleles, genotypes, and haplotypes were compared between cases and controls.
The significant associations were observed for rs1143627 (-31 T>C) and rs16944 (-511 C>T) in the IL1B promoter region, and the T allele of rs1143627 and the C allele of rs16944 had an increased risk of keratoconus (P = 0.014, OR = 1.38 and P = 0.033, OR = 1.33, respectively). The TT genotype of rs1143627 was associated with an increased risk for keratoconus (P = 0.033, OR = 1.52). The CC genotype of rs16944 also showed an increased risk for keratoconus, but this did not reach statistical significance (P = 0.058, OR = 1.45). For rs2071376 in IL1A, there were no significant differences of allele and genotype frequencies between cases and controls. With regard to haplotypic diversity, the haplotype created by the T allele of rs1143627 and the C allele of rs16944 had a 1.72-fold increased risk of keratoconus (P = 4.0 × 10-5).
Our results replicate associations reported recently in a Korean population. This suggests that the IL1B gene play an important role in the development of keratoconus through genetic polymorphisms.
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