中国汉族人群中PTPN22和Ctla4基因单核苷酸多态性与过敏性鼻炎风险的关联
Associations of single nucleotide polymorphisms of PTPN22 and Ctla4 genes with the risk of allergic rhinitis in a Chinese Han population.
作者信息
Ke Xia, Song Shanghua, Wang Xiaoqiang, Shen Yang, Kang Houyong, Hong Suling
机构信息
Department of Otorhinolaryngology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Department of Otorhinolaryngology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
出版信息
Hum Immunol. 2017 Feb;78(2):227-231. doi: 10.1016/j.humimm.2016.11.008. Epub 2016 Nov 22.
BACKGROUND
Allergic rhinitis (AR) is an inflammatory disorder of the upper airway. Protein tyrosine phosphatase non-receptor 22 encoded by PTPN22 gene and cytotoxic T-lymphocyte associated 4 encoded by Ctla4 gene are associated with autoimmune diseases.
PURPOSE
This study was performed to evaluate the potential association of PTPN22 and Ctla4 single nucleotide polymorphisms (SNPs) with AR in a Chinese Han population.
METHODS
A case-control study was performed in 783 Chinese AR patients and 811 healthy controls. Three SNPs in PTPN22 gene (rs2488457, rs1310182, and rs3789604) and 6 SNPs in Ctla4 gene (rs3087243, rs231779, rs11571302, rs11571315, rs231725, and rs35219727) were detected using a polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP).
RESULTS
For PTPN22 gene, a significantly decreased prevalence of the rs2488457 CC genotype and C allele was found in AR patients. The frequencies of the rs1310182 CC genotype, CT genotype, and C allele were significantly associated with the risk of AR. For Ctla4 gene, a significantly increased prevalence of the rs11571302 AA genotype, CA genotype and A allele was noted in AR patients.
CONCLUSION
SNPs of PTPN22 and Ctla4 genes are significantly associated with the risk of AR in the Chinese Han population.
背景
变应性鼻炎（AR）是上呼吸道的一种炎症性疾病。由PTPN22基因编码的蛋白酪氨酸磷酸酶非受体22和由Ctla4基因编码的细胞毒性T淋巴细胞相关抗原4与自身免疫性疾病有关。
目的
本研究旨在评估PTPN22和Ctla4单核苷酸多态性（SNP）与中国汉族人群AR的潜在关联。
方法
对783例中国AR患者和811例健康对照进行病例对照研究。采用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）检测PTPN22基因中的3个SNP（rs2488457、rs1310182和rs3789604）以及Ctla4基因中的6个SNP（rs3087243、rs231779、rs11571302、rs11571315、rs231725和rs35219727）。
结果
对于PTPN22基因，AR患者中rs2488457 CC基因型和C等位基因的患病率显著降低。rs1310182 CC基因型、CT基因型和C等位基因的频率与AR风险显著相关。对于Ctla4基因，AR患者中rs11571302 AA基因型、CA基因型和A等位基因的患病率显著增加。
结论
PTPN22和Ctla4基因的SNP与中国汉族人群AR风险显著相关。
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