Abstract:
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 rs1516794, showed significant association with HM (p=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.
journal_name
Genet Test Mol Biomarkersjournal_title
Genetic testing and molecular biomarkersauthors
Yang X,Liu X,Peng J,Zheng H,Lu F,Gong B,Zhao G,Meng Y,Guan H,Ning M,Yang Z,Shi Ydoi
10.1089/gtmb.2013.0479subject
Has Abstractpub_date
2014-06-01 00:00:00pages
446-52issue
6eissn
1945-0265issn
1945-0257journal_volume
18pub_type
杂志文章abstract:OBJECTIVES:We aimed to investigate the influence of ulinastatin (UTI) on the serum levels of C-reactive protein (CRP), interleukin 6 (IL-6), and tumor necrosis factor alpha (TNF-α) in Asian patients with acute pancreatitis (AP) by performance of a meta-analysis. METHODS:Two investigators independently searched 11 data...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析
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更新日期:2016-03-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
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journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章
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journal_title:Genetic testing and molecular biomarkers
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析
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journal_title:Genetic testing and molecular biomarkers
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
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journal_title:Genetic testing and molecular biomarkers
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2013.0443
更新日期:2014-06-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
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更新日期:2012-08-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2016.0176
更新日期:2016-11-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章
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更新日期:2015-04-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析,评审
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更新日期:2013-12-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2010.0052
更新日期:2010-10-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2015.0186
更新日期:2016-06-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,评审
doi:10.1089/gtmb.2017.0105
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析
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更新日期:2017-08-01 00:00:00
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更新日期:2015-03-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0053
更新日期:2014-08-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
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doi:10.1089/gtmb.2010.0039
更新日期:2010-08-01 00:00:00
abstract:: Aims: Split-hand/split-foot malformation (SHFM) is a developmental and congenital limb malformation characterized by variable degrees of medial clefting or absence of one or more digits in hands and/or feet. The aim of this study was to identify the underlying cause of thr...
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pub_type: 杂志文章
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更新日期:2020-09-01 00:00:00
abstract::Sarcoidosis is a complex disease with autoimmune basis and still unknown etiology. We have screened for mutations in the cystic fibrosis conductance regulator (CFTR) gene and genotyped single-nucleotide polymorphisms in the tumor necrosis factor (TNF), interferon alpha-10 (IFNA10), IFNA17, and interferon gamma (IFNG) ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
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更新日期:2010-08-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2019.0159
更新日期:2020-01-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2009.0017
更新日期:2009-08-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章
doi:10.1089/gtmb.2011.0283
更新日期:2012-07-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章
doi:10.1089/gtmb.2011.0048
更新日期:2011-11-01 00:00:00
abstract:BACKGROUND:Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant inherited disease. This study was carried out to investigate the genetic and functional changes within the FOXL2 gene in two Chinese families with BPES. MATERIALS AND METHODS:DNA was extracted from the peripheral blood ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2018.0064
更新日期:2018-10-01 00:00:00
abstract::Genotypic profiles of the natural killer cell immunoglobulin-like receptors (KIR) have been reported to vary among different ethnic groups and variable clinical entities. This study represents the first report on its distribution among patients with familial Mediterranean fever (FMF). We studied 56 unrelated Lebanese ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2008.0081
更新日期:2009-02-01 00:00:00
abstract:AIM:Neurexin 1 has two major protein isoforms using alternative promoters, coding for the alpha-neurexin 1 (α-NRXN1) and beta-neurexin 1 (β-NRXN1) genes. This study is to explore the possibility that variants of the NRXN1 gene predispose to intellectual disability (ID) and autism spectrum disorder (ASD). METHODS:The c...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0003
更新日期:2014-07-01 00:00:00