中国沈阳原发性开角型青光眼患者中 TLR4 和 GAS7 的单核苷酸多态性。

IF 2.8 4区 医学 Q2 MEDICINE, RESEARCH & EXPERIMENTAL
Experimental Biology and Medicine Pub Date : 2023-12-01 Epub Date: 2024-01-19 DOI:10.1177/15353702231214254
Jiao Jie, Tengfei Wu
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引用次数: 0

摘要

不同种族、国家、性别和家族病史的人患青光眼的潜在不良后果和分类各不相同。自 GWAS 出现以来,近 50 个候选基因被认为是原发性开角型青光眼(POAG)发生的潜在因素。我们的调查首次报道了中国沈阳人群中的Toll样受体4(TLR4)和生长停滞特异性7(GAS7)基因,研究了(TLR4)或GAS7基因的单核苷酸多态性(SNPs)是否是中国沈阳人群中POAG的危险因素,并探讨了其潜在的致病机制。研究选取了2015年7月至2019年6月在沈阳市第四人民医院就诊的POAG患者。共纳入218名POAG患者和252名对照者。对 TLR4(rs7868859、rs7873784、rs77358523 和 rs752998)和 GAS7(rs8012311、rs11656696、rs74629981 和 rs9900085)的 8 个潜在功能 SNPs 进行了基因分型。进行了多因素分析,以评估 TLR4、GAS7 和 POAG 之间的相关性。TLR4的rs7873784等位基因频率显示,POAG患者的GC(P = 0.030)、CC(P = 0.040)和GC + CC基因型(P = 0.009)明显高于对照组的CC基因型。GAS7 基因的 rs8072311 和 rs9900085 也与 POAG 有明显相关性。单倍型分析发现,TLR4 基因的 C-A-T-A 单倍型(顺序:rs7873784-rs77358523-rs752998-rs7868859)和 GAS7 基因的 A-C-C-A 和 C-C-A-C 两种单倍型(顺序:rs9900085-rs74629981-rs8072311-rs11656696)与 POAG 易感性升高有关(P < 0.05)。本研究首次发现 TLR4 的 rs7868859 和 GAS7 的 rs8012311 和 rs9900085 多态性与中国沈阳人群的 POAG 相关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Single-nucleotide polymorphisms of TLR4 and GAS7 linked to primary open-angle glaucoma among patients of Shenyang, China.

The potential for adverse outcomes and classifications of glaucoma differ among race, country, gender, and family medical history. Nearly, 50 represent candidate genes are considered as potential contributors to the happening for the primary open-angle glaucoma (POAG) since the advent of GWASs. Our investigation is the first to report the Toll-like receptor 4 (TLR4) and growth arrest-specific 7 (GAS7) among people in Shenyang, China; to investigate whether single-nucleotide polymorphisms (SNPs) in (TLR4) or GAS7 gene are risk factors for POAG among people in Shenyang, China; and also to explore their potential pathogenic mechanisms. POAG patients from July 2015 to June 2019 at Shenyang Fourth People's Hospital were selected. A total of 218 POAG patients and 252 controls were enrolled. Eight potentially functional SNPs of TLR4 (rs7868859, rs7873784, rs77358523, and rs752998) and GAS7 (rs8012311, rs11656696, rs74629981, and rs9900085) were genotyped. Multifactor analysis was conducted to evaluate the correlation between TLR4, GAS7, and POAG. The allele frequency of rs7873784 of TLR4 demonstrated that the GC (P = 0.030), CC (P = 0.040), and GC + CC genotypes (P = 0.009) were significantly higher compared with CC genotype for POAG patients than that for controls. The rs8072311 and rs9900085 of GAS7 gene also were significantly associated with POAG. Haplotype analysis found that the C-A-T-A haplotype (order: rs7873784-rs77358523-rs752998-rs7868859) of TLR4 gene and the two haplotypes A-C-C-A and C-C-A-C of GAS7 (order: rs9900085-rs74629981-rs8072311-rs11656696) were associated with an elevated susceptibility to POAG (P < 0.05). In this study, rs7868859 of TLR4 and rs8012311 and rs9900085 polymorphisms of GAS7 were first identified to be related to POAG among people in Shenyang, China.

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来源期刊
Experimental Biology and Medicine
Experimental Biology and Medicine 医学-医学:研究与实验
CiteScore
6.00
自引率
0.00%
发文量
157
审稿时长
1 months
期刊介绍: Experimental Biology and Medicine (EBM) is a global, peer-reviewed journal dedicated to the publication of multidisciplinary and interdisciplinary research in the biomedical sciences. EBM provides both research and review articles as well as meeting symposia and brief communications. Articles in EBM represent cutting edge research at the overlapping junctions of the biological, physical and engineering sciences that impact upon the health and welfare of the world''s population. Topics covered in EBM include: Anatomy/Pathology; Biochemistry and Molecular Biology; Bioimaging; Biomedical Engineering; Bionanoscience; Cell and Developmental Biology; Endocrinology and Nutrition; Environmental Health/Biomarkers/Precision Medicine; Genomics, Proteomics, and Bioinformatics; Immunology/Microbiology/Virology; Mechanisms of Aging; Neuroscience; Pharmacology and Toxicology; Physiology; Stem Cell Biology; Structural Biology; Systems Biology and Microphysiological Systems; and Translational Research.
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