SP-D polymorphisms and the risk of COPD

• Published in: Disease markers 2012-01, Vol.33 (2), p.91-100
• Main Authors: Shakoori, Tania A, Sin, Don D, Bokhari, S Nazim Hussain, Ghafoor, Farkhanda, Shakoori, A R
• Format: Article
• Language: English
• Subjects: Other
• ISSN: 0278-0240; 1875-8630
• DOI: 10.3233/DMA-2012-0909

INTRODUCTIONThere are limited data linking serum levels of surfactant protein D, its genetic polymorphisms to the risk of Chronic Obstructive Pulmonary Disease (COPD). OBJECTIVESWe sought to investigate these relationships using a case control study design. METHODSPost 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. RESULTSAllele '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. CONCLUSIONSWe 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.