منابع مشابه
REVIEW SERIES a1-Antitrypsin deficiency ? 2: Genetic aspects of a1- antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk
Correspondence to: Dr D L DeMeo, Channing Laboratory and Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women’s Hospital, 181 Longwood Avenue, Boston, MA 02446, USA; dawn. [email protected]. edu . . . . . . . . . . . . . . . . . . . . . . . T he susceptibility to develop chronic obstructive pulmonary disease (COPD) results from a combination of geneti...
متن کاملComparing family-based rare variant association tests for dichotomous phenotypes
BACKGROUND It has been repeatedly stressed that family-based samples suffer less from genetic heterogeneity and that association analyses with family-based samples are expected to be powerful for detecting susceptibility loci for rare disease. Various approaches for rare-variant analysis with family-based samples have been proposed. METHODS In this report, performances of the existing methods...
متن کاملSERPINA1 11478G/A variant, serum a1-antitrypsin, exacerbation frequency and FEV1 decline in COPD
Background The a1-antitrypsin 11478G/A polymorphism may be associated with attenuated acute a1-antitrypsin responses. It was hypothesised that patients with chronic obstructive pulmonary disease (COPD) and this mutation have accelerated lung function
متن کاملCirculating polymers in a1-antitrypsin deficiency
Most individuals carry two wild-type M alleles of the SERPINA1 gene which encodes a1-antitrypsin. 95% of severe deficiency of a1-antitrypsin is associated with the Z allele (Glu342Lys; denoted PiZZ in the homozygote), and with the retention and polymerisation of a1-antitrypsin within hepatocytes [1]. These polymers are contained within periodic acid–Schiff-positive, diastase-resistant inclusion...
متن کاملIgA-a1 antitrypsin complexes in ankylosing spondylitis
A study of 95 serum samples from 61 patients with ankylosing spondylitis (AS) showed that 21 patients (34%) had raised levels of IgA-al antitrypsin complexes. These were associated with active disease as measured by a clinical index and also with erythrocyte sedimentation rate, C reactive protein, and serum IgA. In particular, an association was noted between 'extraspinal' manifestations of AS ...
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ژورنال
عنوان ژورنال: American Journal of Clinical Pathology
سال: 2015
ISSN: 0002-9173,1943-7722
DOI: 10.1093/ajcp/144.suppl2.050