Relationship between IL1β-511C>T and ILRN VNTR polymorphisms and keratoconus

Cornea. 2014 Feb;33(2):145-7. doi: 10.1097/ICO.0000000000000027.

Abstract

Purpose: The aim of this study was to evaluate the relationship between keratoconus (KC) and interleukin-1β (IL1 β) (-511C>T) and interleukin-1 receptor antagonist (IL1RN) variable number of tandem repeat (VNTR) polymorphisms that are potentially associated in their genetic susceptibility to KC.

Methods: A total of 121 patients with KC and 121 healthy individuals were enrolled. Blood samples with ethylenediamine tetraacetic acid were obtained, and IL1β (-511C>T) (rs16944) (polymerase chain reaction-restriction fragment length polymorphism method) and IL1RN VNTR polymorphisms (rs2234663) (polymerase chain reaction and agarose gel imaging) were investigated.

Results: Genotype and allele distribution for IL1β (-511C>T) and IL1RN VNTR polymorphisms among the KC and healthy groups showed no difference (for all; P > 0.05).

Conclusions: Because the genotype and allele frequency of both polymorphisms are identical, it is most likely that IL1β-511C>T and IL1RN VNTR polymorphisms do not play a role in the development of KC in the Turkish population.

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Interleukin 1 Receptor Antagonist Protein / genetics*
  • Interleukin-1beta / genetics*
  • Keratoconus / genetics*
  • Male
  • Minisatellite Repeats / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide / genetics*
  • Turkey
  • Young Adult

Substances

  • IL1RN protein, human
  • Interleukin 1 Receptor Antagonist Protein
  • Interleukin-1beta