Association between mannose-binding lectin gene polymorphisms and susceptibility to severe acute respiratory syndrome coronavirus infection

Background. Genetic determinants of susceptibility to severe acute respiratory syndrome coronavirus (SARSCoV) infection remain unknown. We assessed whether mannose-binding lectin ( MBL) gene polymorphisms were associated with susceptibility to SARS-CoV infection or disease severity in an ethnically homogeneous population born in northern China. Methods. The frequencies of 1 mutation in codon 54 and 3 promoter polymorphisms at nt - 550, - 221, and 4 were ascertained in 352 patients with SARS and 392 control subjects, by means of polymerase chain reaction direct sequencing. Results. Of 352 patients with SARS and 392 control subjects, 120 (34.4%) and 91 (23.2%) were carriers of the codon 54 variant, respectively ( odds ratio [ OR], 1.73 [ 95% confidence interval {CI}, 1.25-2.39];). Pp. 00086 A total of 123 (36.0%) of 352 patients with SARS and 100 ( 25.5%) of 392 control subjects had haplotype pairs associated with medium or low expression of MBL ( OR, 1.67 [ 95% CI, 1.21-2.29];). The population-. 00187 attributable fraction of patients with SARS that was associated with having the codon 54 variant was 20.1% ( 95% CI, 7.9%-32.3%). Conclusions. MBL gene polymorphisms were significantly associated with susceptibility to SARS-CoV infection; this might be explained by the reduced expression of functional MBL secondary to having the codon 54 variant.