title: MBL2 gene variation affecting serum MBL is associated with prosthetic joint infection in Czech patients after total joint arthroplasty.
abstract: Prosthetic joint infection (PJI) is a serious complication of the total joint arthroplasty (TJA). Serum mannose-binding lectin (MBL), a pattern recognition receptor, is involved in antibacterial immune response. This study investigated whether functional variants of the MBL2 gene may be associated with the risk of PJI. MBL2 -550 (H/L, rs11003125), MBL2 -221 (Y/X, rs7096206) and MBL2 +54 (G/A, rs1800450) single nucleotide polymorphisms (SNP) were genotyped in 112 PJI patients and two control groups: 245 patients with aseptic TJA and 196 Czech population controls without TJA. Serum MBL concentration was assessed in PJI patients (n = 92) and aseptic TJA controls (n = 56). The distribution of MBL2 genotypes complied with the Hardy-Weinberg equilibrium in all investigated groups. Importantly, MBL2 -550 L allele (allelic frequency, 0.72) and LL genotype (genotype frequency, 0.51) were more frequent among PJI patients compared to aseptic TJA controls (L allele: 0.63, P = 0.016, P(c) = 0.048; LL genotype: 0.39, P = 0.037, P(c) > 0.05) and to Czech population controls (L allele: 0.61, P = 0.010, P(c) = 0.030; LL genotype: 0.35, P = 0.006, P(c) = 0.018), respectively. Regarding MBL protein, the MBL2 -550 L carriers presented with lower serum MBL concentrations than non-carriers (median; 593 vs 1876 ng/ml; P < 0.01). Similarly, the carriage of MBL2 -221 X and 54 A alleles was associated with lower serum MBL concentrations (P < 0.01). In conclusion, MBL2 -550 genetic variant(s) associated with low serum concentration of MBL protein can increase the risk of PJI.
authors.affiliation: Laboratory of Immunogenomics and Immunoproteomics, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic.
authors.forename: Z
authors.initials: Z
authors.lastname: Navratilova
authors.forename: J
authors.initials: J
authors.lastname: Gallo
authors.forename: F
authors.initials: F
authors.lastname: Mrazek
authors.forename: J
authors.initials: J
authors.lastname: Lostak
authors.forename: M
authors.initials: M
authors.lastname: Petrek
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001178:Arthroplasty / Q000009:adverse effects*; D016022:Case-Control Studies; D018153:Czech Republic; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007249:Inflammation / Q000209:etiology / Q000235:genetics* / Q000601:surgery; D007596:Joints / Q000378:metabolism* / Q000473:pathology / Q000601:surgery; D008297:Male; D037601:Mannose-Binding Lectin / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D010003:Osteoarthritis / Q000097:blood / Q000235:genetics* / Q000601:surgery; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D044465:White People
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin