Clinical Chemistry and Laboratory Medicine (CCLM)
Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)
Editor-in-Chief: Plebani, Mario
Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.
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Association of Polymorphisms in the Collagen Region of Human SP-A1 and SP-A2 Genes with Pulmonary Tuberculosis in Indian Population
Surfactant protein A (SP-A) binds to and modulates phagocytosis of Mycobacterium tuberculosis by macrophages. We investigated the relationship between polymorphisms in the collagen regions of SP-A1 and SP-A2 genes and pulmonary tuberculosis. In the present study, seven single nucleotide polymorphisms (SNPs) (4 exonic and 3 intronic) have been identified in the collagen regions of SP-A1 and SP-A2 genes in Indian population. Two intronic polymorphisms, SP-A1C1416T ((p = 0.0000, odds ratio (OR) = 20.767, 95% CI: 8.315<OR<51.870) and SP-A2C1382G (p = 0.0054; OR = 3.675, 95% CI: 1.400< OR<9.644), showed significant association with pulmonary tuberculosis (number of patients = 10, number of controls = 7). A redundant SNPA1660G of SP-A2 gene showed significant association with pulmonary tuberculosis (number of patients = 17, number of controls = 19, p = 0.0000, OR = 8.94, 95% CI: 3.31<OR<24.126). This polymorphism, when existing along with a non-redundant polymorphism, SP-A2G1649C (Ala91Pro) resulted in a stronger association with pulmonary tuberculosis (number of patients = 17, number of controls = 19, p = 0.000, OR = 16.3, 95% CI: 7.8644<OR<33.9244). The results indicated that these SNPs in the collagen region of SP-A2 may be one of the contributing factors to the genetic predisposition to pulmonary tuberculosis.
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