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.