Association of <i>LACC1, CEBPB</i>-<i>PTPN1, RIPK2</i> and <i>ADO-EGR2</i> with ocular Behcet’s disease in a Chinese Han population

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: p c =4.95×10 −8 , OR=0.687; rs913678 C allele: p c =3.01×10 −4 , OR=1.297; rs224127 A allele: p c =3.77×10 −4 , OR=1.274; rs10094579 A allele: p c =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.