چکیده (انگلیسی):

Background: Chronic obstructive pulmonary disease (COPD) is defined as a disease
characterised by partially reversible and progressive airflow limitation associated with an abnormal
inflammatory response of the lung with systemic manifestation. COPD is influenced by both environmental
and genetic factors. ADAM33 (a disintegrin and metalloproteinase 33) has been one of
the most exciting candidate genes for asthma and it was first associated with the disease in Caucasian
populations. Recently, ADAM33 was shown to be associated with excessive decline of lung
function and COPD. The aim of the study was to investigate the association of ADAM33 – S1 and
S2 polymorphisms with COPD.
Subjects and methods: A total of 150 COPD patients attending the Department of Pulmonary
Medicine, Government Chest Hospital, Erragadda, Hyderabad, India and 200 healthy control subjects
were considered for the present study. A standard PCR–RFLP method was carried out for
genotyping of ADAM33 S1-A/G and S2-C/G polymorphisms in all the participants.
Results: Genotypic distribution of the control and patient groups was compared with values predicted
by the Hardy–Weinberg equilibrium, odds ratios (OR) and their respective 95% confidence
intervals were used to measure the strength of association between ADAM33 S1 (A/G) and S2
(C/G) gene polymorphisms and COPD. The genotypic frequencies of ADAM33 gene S1 (A/G)
polymorphism were found to be AA/AG/GG – 36%, 56%, 8% in controls and 5.33%, 10.66%,
84% in COPD cases, respectively. Genotypic frequencies for S2 (C/G) polymorphism were found
to be CC/CG/GG – 14.47%, 78.20%, 5.92% in controls and 4%, 8% and 88% in COPD cases,
* Corresponding author at: Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, Telangana 500
016, India. Tel.: +91 40 23403681.