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

作者：Wu, Pengcheng; Du, Liping; Hou, Shengping; Su, Guannan; Yang, Lu; Hu, Jiayue; Deng, Jing; Cao, Qingfeng; Yuan, Gangxiang; Zhou, Chunjiang; Kijlstra, Aize; Yang, Peizeng^*

来源：British Journal of Ophthalmology, 2018, 102(9): 1308-1314.

DOI：10.1136/bjophthalmol-2017-311753

• GENOME-WIDE ASSOCIATION
• VOGT-KOYANAGI-HARADA
• INFLAMMATORY-BOWEL-DISEASE
• POLYMORPHISMS CONFER RISK
• SUSCEPTIBILITY LOCI
• GENE POLYMORPHISMS
• CROHNS-DISEASE
• INNATE IMMUNITY
• IDENTIFIES 2
• IL23R-IL12RB2

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 iPLEXGoId 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)=4.95x10(-8), OR=0.687; rs913678 C allele: p(c)=3.01x10(-4), OR=1.297; rs224127 A allele: p(c)=3.77x10(-4), OR=1.274; rs10094579 A allele: p(c)=6.93x10(-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=2.96x10(-16); rs913678: p=2.09x10(-16); rs224127: p=5.28x10(-13); rs10094579: p=9.21x10(-11)). @@@ Conclusions Our findings confirmed the association of four loci (LACC1, CEBPB-PTPN1, ADO-EGR2 and RIPK2) in Chinese Han patients with BD.

• 出版日期2018-9
• 单位兰州大学; 重庆医科大学