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

An Immunochip study recently identified the association of a number of new genetic loci with Behcet's disease (BD). To confirm the association between new genetic loci reported in an Immunochip study and BD in a Han Chinese population. 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. The results showed that four SNPs (<i>LACC1</i>/rs9316059, <i>CEBPB-PTPN1</i>/rs913678, <i>ADO-EGR2</i>/rs224127 and <i>RIPK2</i>/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). Our findings confirmed the association of four loci (<i>LACC1</i>, <i>CEBPB-PTPN1</i>, <i>ADO-EGR2</i> and <i>RIPK2</i>) in Chinese Han patients with BD.