Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation

Alice Turner, Michelle Needham, Matthew Simmonds, Paul Newby, Stephen Gough, Robert Stockley

Research output: Contribution to journalArticlepeer-review

23 Citations (Scopus)

Abstract

Alpha-1-antitrypsin deficiency is associated with variable development of airflow obstruction and emphysema. Index patients have greater airflow obstruction than subjects detected by screening, but it is unclear if this reflects smoking differences and/or ascertainment bias, or is due to additional genetic factors. In this study 72 sibling pairs with alpha-1-antitrypsin deficiency were compared using lung function measurements and HRCT chest. Tag single nucleotide polymorphisms to cover all common variation in four genes involved in relevant inflammatory pathways (Tumour necrosis factor alpha, Transforming growth Factor beta, Surfactant protein B and Vitamin D binding protein) were genotyped using TaqMan technology and compared between pairs for their frequency and relationship to lung function. 63.5% of non-index siblings had airflow obstruction and 59.5% an FEV(1) <80% predicted. Index siblings had lower FEV(1) and FEV(1)/FVC ratio, a higher incidence of emphysema (all P
Original languageEnglish
Pages (from-to)353-359
Number of pages7
JournalCOPD: Journal of Chronic Obstructive Pulmonary Disease
Volume5
Issue number6
DOIs
Publication statusPublished - 1 Dec 2008

Keywords

  • Genetics
  • Alpha 1-Antitrypsin Deficiency
  • Chronic Obstructive Pulmonary Disease
  • Population

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