Association of - and with ocular Behcet's disease in a Chinese Han population.

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 (/rs9316059, /rs913678, /rs224127 and /rs10094579) were associated with BD in an allelic association test (rs9316059 T allele: p=4.95×10, OR=0.687; rs913678 C allele: p=3.01×10, OR=1.297; rs224127 A allele: p=3.77×10, OR=1.274; rs10094579 A allele: p=6.93×10, 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; rs913678: p=2.09×10; rs224127: p=5.28×10; rs10094579: p=9.21×10).

Conclusions: Our findings confirmed the association of four loci (, , and ) in Chinese Han patients with BD.