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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 12, No. 3, 2006, pp. 105-110
Bioline Code: hg06019
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 12, No. 3, 2006, pp. 105-110

 en Association of SP-D, MBL and I-NOS genetic variants with pulmonary tuberculosis
Vaid Mudit, Kaur Savneet, Taruna Madan, Singh Hari, Gupta VijayK, Murthy KJR, Sarma PuranamU


Background : Pulmonary tuberculosis is caused by Mycobacterium tuberculosis check for this species in other resources . It is a multifactorial disease with both host as well as pathogen factors contributing to susceptibility and protection from the disease. Various reports have highlighted important roles of lung surfactant protein D (SP-D), mannan-binding lectin (MBL) and I-NOS in innate immune defense against M. tuberculosis
Aims : The present study investigated the role of polymorphisms in three candidate genes encoding Lung surfactant protein D, Mannan binding lectin and Inducible Nitric oxide synthase, in susceptibility and protection to pulmonary tuberculosis.
Settings and Design : A case-control association study of SNP's in lung surfactant protein D (SP-D), mannan-binding lectin (MBL) and I-NOS with pulmonary tuberculosis in Indian population was carried out. This involved sequencing of all the coding exons of lung surfactant protein D (SP-D) , while, exon 1 (collagen region) and exon 4 (carbohydrate recognition domain) of mannan-binding lectin (MBL) and exons 2, 8 and 16 of I-NOS and their flanking intronic regions for single nucleotide polymorphisms in DNA samples isolated from 30 pulmonary tuberculosis patients and 30 controls of Indian population.
Statistical analysis: Various allele frequencies were calculated using online two by two table ( Odds ratio and P values were calculated at 95% confidence interval (CI).
Results : A total of fourteen single nucleotide polymorphisms (5 in SP-D , 5 in MBL and 4 in I-NOS ) were observed of which four (G459A SP-D , G274T I-NOS , G1011A and T357G MBL ) have not been reported earlier. Four single nucleotide polymorphisms viz. G459A of exon 7 of SP-D ( P =0.00, odds ratio (OR) = 4.96, 2.18 OR< 11.31), G875A of exon 1 of MBL ( P = 0.00 or= 3.85 1.66 OR< 8.88), G300A of intron 8 ( P =0.00 or=4.04, 2.20< OR< 7.42) and G274T of intron 16 of I-NOS ( P =0.00 or=4.46, 2.40 OR< 8.28) showed significant association with TB in Indian population.
Conclusion: The present study has led to identification of 4 SNP's in SP-D , MBL and I-NOS associated with pulmonary tuberculosis in Indian population.

Inducible nitric oxide synthase, lung surfactant protein D, mannan binding lectin, polymorphism, pulmonary tuberculosis

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