The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Lab of Ophthalmology, Chongqing Eye Institute, Chongqing, China.
Lanzhou University Second Hospital, Lanzhou, Gansu, China.
Br J Ophthalmol. 2018 Sep;102(9):1308-1314. doi: 10.1136/bjophthalmol-2017-311753. Epub 2018 Jun 15.
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 (/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).
Our findings confirmed the association of four loci (, , and ) in Chinese Han patients with BD.
一项免疫芯片研究最近发现了一些新的遗传位点与白塞病（BD）的关联。
在汉族人群中验证免疫芯片研究中报道的新遗传位点与 BD 之间的关联。
对 1238 例 BD 患者和 1458 例健康对照进行了两阶段关联研究。通过 iPLEXGold 基因分型或 TaqMan SNP 测定法选择 22 个候选单核苷酸多态性（SNP）进行基因分型，并对显著相关的标记物进行了荟萃分析。
结果显示，在等位基因关联测试中，4 个 SNP（/rs9316059、/rs913678、/rs224127 和 /rs10094579）与 BD 相关（rs9316059 T 等位基因：p=4.95×10，OR=0.687；rs913678 C 等位基因：p=3.01×10，OR=1.297；rs224127 A 等位基因：p=3.77×10，OR=1.274；rs10094579 A 等位基因：p=6.93×10，OR=1.302）。通过荟萃分析测试的 4 个 SNP，与 BD 的关联得到了加强，且均超过全基因组显著性（rs9316059：p=2.96×10；rs913678：p=2.09×10；rs224127：p=5.28×10；rs10094579：p=9.21×10）。
我们的研究结果证实了中国汉族患者 BD 中四个位点（、、和）的关联。
