Association of LACC1, CEBPB- PTPN1, RIPK2 and ADO-EGR2 with ocular Behcet's disease in a Chinese Han population

Br J Ophthalmol. 2018 Sep;102(9):1308-1314. doi: 10.1136/bjophthalmol-2017-311753. Epub 2018 Jun 15.

Abstract

Background: An Immunochip study recently identified the association of a number of new genetic loci with Behcet's disease (BD).

Objective: To confirm the association between new genetic loci reported in an Immunochip study and BD in a Han Chinese population.

Methods: A two-stage association study was carried out in 1238 patients with BD and 1458 healthy controls. Twenty-two candidate single nucleotide polymorphisms (SNPs) were selected for genotyping by iPLEXGold genotyping or TaqMan SNP assays and a meta-analysis was performed for significantly associated markers.

Results: The results showed that four SNPs (LACC1/rs9316059, CEBPB-PTPN1/rs913678, ADO-EGR2/rs224127 and RIPK2/rs10094579) were associated with BD in an allelic association test (rs9316059 T allele: pc=4.95×10-8, OR=0.687; rs913678 C allele: pc=3.01×10-4, OR=1.297; rs224127 A allele: pc=3.77×10-4, OR=1.274; rs10094579 A allele: pc=6.93×10-4, OR=1.302). For four SNPs tested by meta-analysis, the association with BD was strengthened and all exceeded genome-wide significance (rs9316059: p=2.96×10-16; rs913678: p=2.09×10-16; rs224127: p=5.28×10-13; rs10094579: p=9.21×10-11).

Conclusions: Our findings confirmed the association of four loci (LACC1, CEBPB-PTPN1, ADO-EGR2 and RIPK2) in Chinese Han patients with BD.

Keywords: Genetics; Immunology; Inflammation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Behcet Syndrome / complications*
  • Behcet Syndrome / ethnology
  • Behcet Syndrome / metabolism
  • CCAAT-Enhancer-Binding Protein-beta / genetics*
  • CCAAT-Enhancer-Binding Protein-beta / metabolism
  • Carotenoids / genetics*
  • Carotenoids / metabolism
  • China / epidemiology
  • Ethnicity
  • Eye Diseases / ethnology
  • Eye Diseases / etiology*
  • Eye Diseases / genetics
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Incidence
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Oxygenases / genetics*
  • Oxygenases / metabolism
  • Polymorphism, Single Nucleotide
  • Protein Tyrosine Phosphatase, Non-Receptor Type 1 / genetics*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 1 / metabolism
  • Proteins / genetics*
  • Proteins / metabolism
  • Receptor-Interacting Protein Serine-Threonine Kinase 2 / genetics*
  • Receptor-Interacting Protein Serine-Threonine Kinase 2 / metabolism
  • Retrospective Studies

Substances

  • CCAAT-Enhancer-Binding Protein-beta
  • CEBPB protein, human
  • Intracellular Signaling Peptides and Proteins
  • LACC1 protein, human
  • Proteins
  • beta-apocarotenoid-14',13'-dioxygenase
  • Carotenoids
  • Oxygenases
  • RIPK2 protein, human
  • Receptor-Interacting Protein Serine-Threonine Kinase 2
  • PTPN1 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 1