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A single nucleotide polymorphism in the IL1RL1 gene is associated with Behcet's disease in a Chinese Han population

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机构： [1]Chinese Acad Med Sci & Peking Union Med Coll, Dept Ophthalmol, Peking Union Med Coll Hosp, Beijing 100730, Peoples R China [2]Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Rheumatol & Clin Immunol, Key Lab Rheumatol & Clin Immunol,Minist Educ, Beijing 100730, Peoples R China [3]Capital Med Univ, Beijing Anzhen Hosp, Dept Clin Lab, Beijing 100029, Peoples R China [4]Peking Union Med Coll & Chinese Acad Med Sci, Dept Clin Lab, Peking Union Med Coll Hosp, Beijing 100730, Peoples R China [5]Chongqing Med Univ, Chongqing Key Lab Ophthalmol, Affiliated Hosp 1, Chongqing 400016, Peoples R China [6]Chongqing Eye Inst, Chongqing 400016, Peoples R China

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关键词： Behcet's disease single nucleotide polymorphism Chinese Han population IL33 IL1RL1

摘要：

AIM: To explore the association of single nucleotide polymorphisms (SNPs) in the IL33/IL1RL1 gene region with the susceptibility to Behcet's disease (BD) in a Chinese Han population. METHODS: A total of eight SNPs in the candidate gene region ( rs11792633, rs7025417, rs10975519 and rs1048274 in IL33; rs2310220, rs12712142, rs13424006 and rs3821204 in IL1RL1) were genotyped in783 BD patients and 701 healthy controls by the Sequenom Mass Array iPLEX platform. RESULTS: A statistically significant association was observed between IL1RL1 rs12712142 and BD patients. The frequency of IL1RL1 rs12712142 variant allele A was significantly lower in BD patients than that in controls (OR=0.8, 95%CI: 0.69-0.94, Pc=0.039); the genotype distribution (Pc=0.043) and additive and dominant genetic model analyses (OR=0.8, 95%CI: 0.69-0.94, Pc=0.040 and OR=0.72, 95%CI: 0.58-0.88, Pc=0.011) also indicated a strong association between rs12712142 and BD patients. CONCLUSION: This is the first study to reveal the association between IL1RL1 rs12712142 variant allele A and the decreased risk of BD in the Chinese Han population, indicating a protective role of IL1RL1 in the pathogenesis of BD.

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出版当年[2020]版：

大类 | 3 区医学

小类 | 3 区眼科学

最新[2023]版：

大类 | 4 区医学

小类 | 4 区眼科学

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出版当年[2019]版：

Q4 OPHTHALMOLOGY

最新[2023]版：

Q2 OPHTHALMOLOGY

影响因子： 1.9 最新[2023版] 1.8 最新五年平均 1.33 出版当年[2019版] 1.371 出版当年五年平均 1.189 出版前一年[2018版] 1.779 出版后一年[2020版]

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第一作者机构： [1]Chinese Acad Med Sci & Peking Union Med Coll, Dept Ophthalmol, Peking Union Med Coll Hosp, Beijing 100730, Peoples R China

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通讯机构： [1]Chinese Acad Med Sci & Peking Union Med Coll, Dept Ophthalmol, Peking Union Med Coll Hosp, Beijing 100730, Peoples R China [*1]Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

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