Increased frequency of the mannose-binding lectin LX haplotype in Chinese systemic lupus erythematosus patients

Mannose-binding lectin (MBL) is an important complement-activating protein of the human immune system. As a result of one of three structural gene mutations in exon 1 (variants B, C and D) and/or the presence of a low-efficiency promoter polymorphism, MBL deficiency may be associated with increased susceptibility to infectious diseases and to autoimmune disorders, including systemic lupus erythematosus (SLE). Using a combined approach of heteroduplex generator and polymerase chain reaction, a systematic search for mutations in exon 1 and the promoter region of the MBL gene was performed in a Chinese study population comprising 41 SLE patients and 111 healthy controls. Two alleles, a wild-type allele A and a variant allele B (a previously reported mutation of GGC to GAC at codon 54), were identified in MBL exon 1. The frequency of the B allele (0.15) was higher in the SLE patients than in the healthy controls (0.09), but the difference did not attain statistical significance (P > 0.05). However, for two polymorphisms at positions -550 and -221 in the promoter region, the frequency of the low-MBL-producing haplotype (LX) in the patients (0.2073) was significantly higher than that in the controls (0.0855) (P = 0.003, relative risk = 2.79). Our results suggest that the LX haplotype represents a strong risk factor among Chinese SLE patients. Although of lesser importance, the MBL B allele also may be a risk component in the developing process of SLE in Chinese patients.