RGD Reference Report - Interleukin 1 beta promoter polymorphism is associated with keratoconus in a Japanese population. - Rat Genome Database

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Interleukin 1 beta promoter polymorphism is associated with keratoconus in a Japanese population.

Authors: Mikami, T  Meguro, A  Teshigawara, T  Takeuchi, M  Uemoto, R  Kawagoe, T  Nomura, E  Asukata, Y  Ishioka, M  Iwasaki, M  Fukagawa, K  Konomi, K  Shimazaki, J  Nishida, T  Mizuki, N 
Citation: Mikami T, etal., Mol Vis. 2013 Apr 11;19:845-51. Print 2013.
RGD ID: 7401165
Pubmed: PMID:23592922   (View Abstract at PubMed)
PMCID: PMC3626376   (View Article at PubMed Central)

PURPOSE: Polymorphisms in the interleukin 1 alpha (IL1A) and IL1B gene regions were previously associated with keratoconus in a Korean population. In the present study, we investigated whether the IL1A and IL1B polymorphisms are associated with keratoconus in a Japanese population. METHODS: A total of 169 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) to compare the frequencies of alleles, genotypes, and haplotypes between cases and controls. RESULTS: Statistically significant association was observed for rs1143627 (-31 T>C) in the IL1B promoter region; the T allele of rs1143627 was associated with an increased risk of keratoconus (p=0.014, corrected p value [pc]=0.043, odds ratio=1.38). The C allele of rs16944 (-511 C>T) in the IL1B promoter region had a 1.33-fold increased risk of keratoconus, although this increase did not reach statistical significance (p=0.033, pc=0.098). The TT genotype of rs1143627 was weakly associated with an increased risk of keratoconus (p=0.033, pc=0.099, odds ratio=1.52). However, no significant differences were found in the allele and genotype frequencies between the cases and controls for rs2071376 in IL1A. Regarding haplotypic diversity, the haplotype created by the T allele of rs1143627 and C allele of rs16944 was associated with a 1.72-fold increased risk of keratoconus (p=4.0x10(-5), pc=1.6x10(-4)). CONCLUSIONS: Our results replicate associations reported recently in a Korean population. Thus, IL1B may play an important role in the development of keratoconus through genetic polymorphisms.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
keratoconus  IAGP 7401165DNA:SNPs and haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human)RGD 
keratoconus  ISOIL1B (Homo sapiens)7401165; 7401165DNA:SNPs and haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Il1b  (interleukin 1 beta)

Genes (Mus musculus)
Il1b  (interleukin 1 beta)

Genes (Homo sapiens)
IL1B  (interleukin 1 beta)


Additional Information