中国汉族人群中 - 和 与眼型 Behcet 病的相关性。
Association of - and with ocular Behcet's disease in a Chinese Han population.
机构信息
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.
出版信息
Br J Ophthalmol. 2018 Sep;102(9):1308-1314. doi: 10.1136/bjophthalmol-2017-311753. Epub 2018 Jun 15.
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.
背景
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。
目的
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。
方法
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
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）。
结论
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。
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