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Evaluation of MYOC, ACAN, HGF, and MET as Candidate Genes for High Myopia in a Han Chinese Population

机译:MYOC,ACAN,HGF和MET作为中国汉族高度近视候选基因的评估

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摘要

Aim: To investigate the association between high myopia (HM) and single nucleotide polymorphisms (SNPs) in the myocilin (MYOC), hepatocyte growth factor (HGF), hepatocyte growth factor receptor (MET), and aggrecan (ACAN) genes in a Han Chinese population. Methods: Sixteen SNPs were genotyped by the SNaPshot method in a subject group composed of 1052 HM patients and 1070 controls. Statistical analysis was performed to determine the association between the SNPs and the susceptibility of HM. Results: Two SNPs (rs3784757 and rs1516794) in ACAN were significantly associated with HM (p = 0.0334 and 0.0236, odds ratio [OR] = 0.83 and 0.79, respectively). The risk haplotype CA and the protective haplotype TT, generated by rs3784757 and rsl516794, showed significant association with HM 0 = 0.0327 and 0.0304, OR= 1.21 and 0.80, respectively). Two SNPs (rs38857 and rs10215153) in MET and one SNP (rs3784757) in ACAN showed significant association with HM (p = 0.0064, 0.0113, and 0.0373; OR = 4.14, 5.74 and 0.52; respectively) in the recessive model. None of the other SNPs showed significant association with HM. Conclusions: Our results suggested that genetic variants in ACAN and MET are associated with HM. Functional roles of ACAN and MET in the development of HM need to be further investigated.
机译:目的:研究汉族人群中高度近视(HM)与肌球蛋白(MYOC),肝细胞生长因子(HGF),肝细胞生长因子受体(MET)和聚集蛋白聚糖(ACAN)基因中的单核苷酸多态性(SNP)之间的关联中国人口。方法:采用SNaPshot方法对16个SNP进行基因分型,研究对象为1052名HM患者和1070名对照。进行统计分析,以确定SNP与HM的易感性之间的关联。结果:ACAN中的两个SNP(rs3784757和rs1516794)与HM显着相关(p = 0.0334和0.0236,优势比[OR]分别为0.83和0.79)。 rs3784757和rs1516794生成的风险单倍型CA和保护性单倍型TT与HM 0 = 0.0327和0.0304,OR = 1.21和0.80显着相关。在隐性模型中,MET中的两个SNP(rs38857和rs10215153)和ACAN中的一个SNP(rs3784757)显示与HM显着相关(分别为p = 0.0064、0.0113和0.0373; OR = 4.14、5.74和0.52)。其他SNP均未显示与HM显着相关。结论:我们的结果表明,ACAN和MET的遗传变异与HM有关。 ACAN和MET在HM发展中的功能作用有待进一步研究。

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  • 来源
    《Genetic testing and molecular biomarkers》 |2014年第6期|446-452|共7页
  • 作者单位

    Department of Ophthalmology, Qingdao University School of Medicine, Affiliated Hospital of Qingdao University School of Medicine, Qingdao, China ,Department of Ophthalmology Affiliated Hospital of Qingdao University School of Medicine 16th Jiangsu Road Qingdao Shandong 266003 China;

    The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Clinical Laboratory Department, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China ,Key Laboratory for Neurolnformation of Ministry of Education, School of Life Science and Technology, University of Electronic Science and Technology of China, Chengdu, China ,School of Life Science and Engineering, Southwest Jiaotong University, Chengdu, China;

    Department of Ophthalmology, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China;

    The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Clinical Laboratory Department, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China;

    The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Clinical Laboratory Department, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China;

    The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Clinical Laboratory Department, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China;

    Department of Ophthalmology, Qingdao University School of Medicine, Affiliated Hospital of Qingdao University School of Medicine, Qingdao, China;

    Department of Ophthalmology, Qingdao University School of Medicine, Affiliated Hospital of Qingdao University School of Medicine, Qingdao, China;

    Department of Ophthalmology, Qingdao University School of Medicine, Affiliated Hospital of Qingdao University School of Medicine, Qingdao, China;

    Department of Ophthalmology, Qingdao University School of Medicine, Affiliated Hospital of Qingdao University School of Medicine, Qingdao, China;

    The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Clinical Laboratory Department, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China ,School of Life Science and Engineering, Southwest Jiaotong University, Chengdu, China;

    The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Clinical Laboratory Department, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China ,Key Laboratory for Neurolnformation of Ministry of Education, School of Life Science and Technology, University of Electronic Science and Technology of China, Chengdu, China ,School of Life Science and Engineering, Southwest Jiaotong University, Chengdu, China ,The Sichuan Provincial Key Laboratory for Human Disease Gene Study Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital 32 the First Ring Road West 2 Chengdu Sichuan 610072 China;

  • 收录信息 美国《科学引文索引》(SCI);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
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