Article Text

other Versions

PDF

The PHF11 gene is not associated with asthma or asthma phenotypes in two independent populations.
  1. Jane McClenaghan (jayne.blond007{at}gmail.com)
  1. Centre for Genetic Epidemiology and Biostatistics, University of Western Australia, Australia
    1. Nicole M Warrington (nwarrington{at}waimr.uwa.edu.au)
    1. Centre for Genetic Epidemiology and Biostatistics, University of Western Australia, Australia
      1. Euzebiusz J Jamrozik (zeb.jamrozik{at}gmail.com)
      1. Centre for Genetic Epidemiology and Biostatistics, University of Western Australia, Australia
        1. Jennie Hui
        1. PathWest Laboratory Medicine, Australia
          1. John P Beilby
          1. Diagnostic Molecular Genetics Department, Australia
            1. Janice Hansen
            1. Telethon Institute for Child Health Research, Australia
              1. Nicholas H de Klerk
              1. Telethon Institute for Child Health Research, Australia
                1. Alan L James
                1. School of Medicine and Pharmacology, UWA, Australia
                  1. William A Musk, Dr
                  1. School of Medicine and Pharmacology, UWA, Australia
                    1. Lyle J Palmer (lyle.palmer{at}gmail.com)
                    1. Centre for Genetic Epidemiology and Biostatistics, University of Western Australia, Australia

                      Abstract

                      Rationale: Numerous areas of the human genome have previously been associated with asthma and asthma related phenotypes, but few positive findings have been successfully replicated in independent populations. Initial studies have reported strong associations of variants in the plant homeodomain zinc finger protein 11 (PHF11) gene with serum immunoglobulin E levels, asthma, airway hyper-responsiveness, and childhood atopic dermatitis.

                      Objectives: To investigate the association of variants in the PHF11 gene with asthma and associated intermediate phenotypes in two independent Western Australian population-based samples.

                      Methods: A linkage-disequilibrium (LD)-tagging set of 20 single nucleotide polymorphisms (SNPs) was genotyped in PHF11 in two separate populations (total n=2,315): a family-based twin study consisting of 992 individuals; and a population-based, nested case-control study consisting of 1,323 unrelated subjects. Information regarding asthma, respiratory physiology, atopy, and environmental exposures was collected. Transmission disequilibrium tests, variance components models and generalized linear models were used to test for association between PHF11 SNPs and selected asthma outcomes (including longitudinal change in lung function).

                      Measurements and main results: Several marginally significant associations were found between PHF11 and spirometry measures and asthma in the Busselton population, however these findings did not remain significant after adjustment for multiple testing. No other significant associations were found with asthma-associated phenotypes in either population.

                      Conclusions: Previously reported associations of PHF11 with asthma outcomes were not replicated in this study. This study suggests that PHF11 is unlikely to contain polymorphic loci that have a major impact on asthma susceptibility in our populations.

                      Statistics from Altmetric.com

                      Request permissions

                      If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.