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Article type: Research Article
Authors: Shakoori, Tania A. | Sin, Don D. | Bokhari, S. Nazim Hussain | Ghafoor, Farkhanda | Shakoori, A.R.
Affiliations: University of Health Science, Lahore, Pakistan | Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada | National Health Research Complex, SZMC, Lahore, Pakistan | School of Biological Sciences, University of the Punjab, Lahore, Pakistan
Note: [] Corresponding author: Dr. Tania Ahmed Shakoori, Ph.D., University of Health Science, Lahore, Pakistan. E-mail: drtaniashakoori@yahoo.com
Abstract: Introduction: There are limited data linking serum levels of surfactant protein D, its genetic polymorphisms to the risk of Chronic Obstructive Pulmonary Disease (COPD). Objectives: We sought to investigate these relationships using a case control study design. Methods: Post bronchodilator values of FEV1/FVC < 0.7 were used to diagnose COPD patients (n=115). Controls were healthy subjects with normal spirometry (n=106) Single nucleotide polymorphisms (rs721917, rs2243639, rs3088308) were genotyped using polymerase chain reaction (PCR) and restriction analysis. Serum SP-D levels were measured using a specific immunoassay. Results: Allele 'A' at rs3088308 (p < 0.00, B= −0.41) and 'C' allele at rs721917 (p=0.03; B= −0.30) were associated with reduced serum SP-D levels. Genotype 'T/T' at rs721917 was significantly associated with risk of COPD (p=0.01). Patients with repeat exacerbations had significantly higher serum SP-D even after adjusting for genetic factors. Conclusions: We report for the first time that rs3088308 is an important factor influencing systemic SP-D levels and confirm the previous association of rs721917 to the risk of COPD and serum SP-D levels.
Keywords: Surfactant protein D, SP-D SNPs, serum SP-D levels, COPD risk, SP-D haplotypes
DOI: 10.3233/DMA-2012-0909
Journal: Disease Markers, vol. 33, no. 2, pp. 91-100, 2012
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