Staphylococcus aureus colonization of the human nares predisposes to sometimes severe auto-infection. To investigate whether genetic polymorphism affects the S. aureus carriage status, sequence variation in α-defensin and β-defensin, and mannose-binding lectin (MBL) genes were determined for a group of volunteers (n = 109) with known S. aureus nasal carriage status. DEFA1/3 expression was measured in a subset of the volunteers (n = 32). None of the single nucleotide polymorphisms studied could clearly distinguish the (non) carriage groups. S. aureus carriers differed from non-carriers in baseline level of HNP1-3 peptide production (median: 218 versus 89 μg/ml, P = 0.016). No association between HNP1-3 levels and the individual sequence polymorphisms was documented. The combined copy numbers of DEFA1/A3 genes ranged from 5 to 23 per diploid genome. A linear correlation between combined copy numbers and HNP1-3 peptide concentrations in nasal secretions of non-carriers was noted (r2= 0.8991). DEFA3 gene was absent in 25% of the individuals. MBL haplotype A was overrepresented in persistent S. aureus carriers (87% vs. 67%; P = 0.038). In conclusion, defensin gene polymorphism, both in sequence and in gene copy numbers, does not seem to be involved in S. aureus carriage predisposition. However, MBL haplotypes do so significantly. Baseline HNP1-3 production is more the consequence of S. aureus colonization than a reason for the (non) carrier status.

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Keywords Gene polymorphism, Human nasal colonization, Innate immunity, Staphylococcus aureus
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Journal Microbes and Infection: a journal on infectious agents and host defenses
van Belkum, A.F, Emonts, M, Wertheim, H.F.L, de Jongh, C.E, Nouwen, J.L, Bartels, H, … van Leeuwen, W.B. (2007). The role of human innate immune factors in nasal colonization by Staphylococcus aureus. Microbes and Infection: a journal on infectious agents and host defenses, 9(12-13), 1471–1477. doi:10.1016/j.micinf.2007.08.003