June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
IL1B promoter polymorphisms are associated with keratoconus in a Japanese population
Author Affiliations & Notes
  • Takenori Mikami
    Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Yokosuka Chuoh Eye Clinic, Yokosuka, Japan
  • Akira Meguro
    Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan
  • Takeshi Teshigawara
    Yokosuka Chuoh Eye Clinic, Yokosuka, Japan
  • Masaki Takeuchi
    Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan
  • Misaki Ishioka
    Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Ryogoku Eye Clinic, Tokyo, Japan
  • Miki Iwasaki
    Ryogoku Eye Clinic, Tokyo, Japan
  • Kazumi Fukagawa
    Ryogoku Eye Clinic, Tokyo, Japan
  • Kenji Konomi
    Department of Ophthalmology, Ichikawa General Hospital, Tokyo Dental College, Ichikawa, Japan
  • Jun Shimazaki
    Department of Ophthalmology, Ichikawa General Hospital, Tokyo Dental College, Ichikawa, Japan
  • Nobuhisa Mizuki
    Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan
  • Footnotes
    Commercial Relationships Takenori Mikami, None; Akira Meguro, None; Takeshi Teshigawara, None; Masaki Takeuchi, None; Misaki Ishioka, None; Miki Iwasaki, None; Kazumi Fukagawa, None; Kenji Konomi, None; Jun Shimazaki, Santen Pharmaceutical Co. (F), Otsuka Pharmaceutical Co. (F), Abott Medical Optics (F); Nobuhisa Mizuki, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 5302. doi:
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    • Get Citation

      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)

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Abstract

Purpose: 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.

Methods: 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.

Results: 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).

Conclusions: 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.

Keywords: 574 keratoconus • 539 genetics  
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