The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology, Chongqing Eye Institute, Chongqing Branch (Municipal Division) of National Clinical Research Center for Ocular Diseases, Chongqing, People's Republic of China.
Department of Ophthalmology, the First Affiliated Hospital of Zhengzhou University, Henan Province Eye Hospital, Henan International Joint Research Laboratory for Ocular Immunology and Retinal Injury Repair, Zhengzhou, People's Republic of China.
Ocul Immunol Inflamm. 2024 Apr;32(3):336-341. doi: 10.1080/09273948.2023.2170887. Epub 2023 Feb 6.
To explore the association of the polymorphisms in and LncRNA genes with ocular BD in Han Chinese patients.
Correlation study was performed using the iPLEX system on a cohort of ocular BD patients andcontrols. The genotyping of 7 SNPs for LncRNA and genes in ocular BD patients was performed using the iPLEX Gold genotype.
The frequencies of rs4013722 AG genotype/A allele in LncRNA were significantly decreased in BD patients, and the frequency of GG genotype was significantly increased in BD patients. The rs4013722 was associated with ocular BD in male patients, but not in female patients. The AG and GG genotype of rs4013722 were associated with skin lesions in male patients. The gene polymorphisms of were not associated with BD patients.
The LncRNA /rs4013722 polymorphism conferred susceptibility to ocular BD in Han Chinese patients, which was influenced by sex. LncRNA: Long Non-coding RNA; BD: Behcet's disease; SNP: single nucleotide polymorphism; PBMCs: peripheral blood mononuclear cells; PTPs: Protein tyrosine phosphatases; : protein tyrosine phosphatase non-receptor 6; GWAS: genome-wide association study; HWE: Hardy-Weinberg equilibrium; LD: linkage disequilibrium; OR: odds ratio; CI: confidence interval; eQTL: expression quantitative trait loci; IBD: inflammatory bowel disease; RA: rheumatoid arthritis; : Bonferroni corrected value; NS: non-significant.
探讨 基因和 LncRNA 基因多态性与汉族眼型贝赫切特病（BD）患者的相关性。
采用 iPLEX 系统对眼型 BD 患者和对照组进行关联研究。采用 iPLEX Gold 基因分型对眼型 BD 患者 LncRNA 基因的 7 个 SNP 进行基因分型。
LncRNA 中 rs4013722AG 基因型/A 等位基因的频率在 BD 患者中明显降低，GG 基因型的频率在 BD 患者中明显增加。rs4013722 与男性 BD 患者有关，但与女性 BD 患者无关。rs4013722 的 AG 和 GG 基因型与男性患者的皮肤损伤有关。基因多态性与 BD 患者无关。
LncRNA /rs4013722 多态性赋予汉族人眼型 BD 易感性，这受性别影响。LncRNA：长链非编码 RNA；BD：贝赫切特病；SNP：单核苷酸多态性；PBMCs：外周血单核细胞；PTPs：蛋白酪氨酸磷酸酶；：蛋白酪氨酸磷酸酶非受体 6；GWAS：全基因组关联研究；HWE：哈迪-温伯格平衡；LD：连锁不平衡；OR：比值比；CI：置信区间；eQTL：表达数量性状基因座；IBD：炎症性肠病；RA：类风湿关节炎；：Bonferroni 校正 值；NS：不显著。
