Genetic Association Study of KCNQ5 Polymorphisms with High Myopia.

Identification of genetic variations related to high myopia may advance our knowledge of the etiopathogenesis of refractive error. This study investigated the role of potassium channel gene (KCNQ5) polymorphisms in high myopia. We performed a case-control study of 1563 unrelated Han Chinese subjects...

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Publicado en:BioMed Research International Vol. 2017; pp. 1 - 8
Autores principales: Liao, Xuan, Yap, Maurice K. H., Leung, Kim Hung, Kao, Patrick Y. P., Liu, Long Qian, Yip, Shea Ping
Formato: research tables/charts Journal Article
Publicado: Wiley-Blackwell 8/13/2017
Acceso en línea:Ver este registro en EBSCOhost
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      dt: 8/13/2017
      vid: 2017
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      pub: Wiley-Blackwell
      place: Malden, Massachusetts
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        10.1155/2017/3024156
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        atl: Genetic Association Study of KCNQ5 Polymorphisms with High Myopia.
      aug:
        au:
          Liao, Xuan
          Yap, Maurice K. H.
          Leung, Kim Hung
          Kao, Patrick Y. P.
          Liu, Long Qian
          Yip, Shea Ping
        affil: Department of Ophthalmology, Affiliated Hospital of North Sichuan Medical College and Department of Ophthalmology and Optometry, North Sichuan Medical College, Nanchong, Sichuan, China
      sug:
        subj:
          Myopia Familial and Genetic
          Genetics
          Polymorphism, Genetic
          Myopia Diagnosis
          Refractive Errors Physiopathology
          Potassium Physiology
          China
          Geographic Locations
          Chinese Persons
          Nucleotides
          Logistic Regression
          Male
          Female
          Ophthalmology
          Eye Diseases
          Myopia Epidemiology
          Optometry
          Research Subject Recruitment
          Data Analysis Software
          Odds Ratio
          Chi Square Test
          Confidence Intervals
          Descriptive Statistics
          Control Group
          Genotype
          Alleles
          Funding Source
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      ab: Identification of genetic variations related to high myopia may advance our knowledge of the etiopathogenesis of refractive error. This study investigated the role of potassium channel gene (KCNQ5) polymorphisms in high myopia. We performed a case-control study of 1563 unrelated Han Chinese subjects (809 cases of high myopia and 754 emmetropic controls). Five tag single-nucleotide polymorphisms (SNPs) of KCNQ5 were genotyped, and association testing with high myopia was conducted using logistic regression analysis adjusted for sex and age to give Pasym values, and multiple comparisons were corrected by permutation test to give Pemp values. All five noncoding SNPs were associated with high myopia. The SNP rs7744813, previously shown to be associated with refractive error and myopia in two GWAS, showed an odds ratio of 0.75 (95% CI 0.63–0.90; Pemp = 0.0058) for the minor allele. The top SNP rs9342979 showed an odds ratio of 0.75 (95% CI 0.64–0.89; Pemp = 0.0045) for the minor allele. Both SNPs are located within enhancer histone marks and DNase-hypersensitive sites. Our data support the involvement of KCNQ5 gene polymorphisms in the genetic susceptibility to high myopia and further exploration of KCNQ5 as a risk factor for high myopia.
      pubtype: Academic Journal
      doctype:
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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