Journal article
Increased frequency of the mannose-binding lectin LX haplotype in Chinese systemic lupus erythematosus patients
European Journal of Immunogenetics, Vol.30(2), pp.121-124
2003
Abstract
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 "12550 and "12221 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.
Details
- Title
- Increased frequency of the mannose-binding lectin LX haplotype in Chinese systemic lupus erythematosus patients
- Authors/Creators
- Y.F. Huang (Author/Creator) - Huazhong University of Science and TechnologyW. Wang (Author/Creator)J.Y. Han (Author/Creator)X.W. Wu (Author/Creator)S.T. Zhang (Author/Creator)C.J. Liu (Author/Creator)Q.G. Hu (Author/Creator)P. Xiong (Author/Creator)R.M.J. Hamvas (Author/Creator)N. Wood (Author/Creator)F.L. Gong (Author/Creator)A.H. Bittles (Author/Creator)
- Publication Details
- European Journal of Immunogenetics, Vol.30(2), pp.121-124
- Publisher
- Wiley-Blackwell
- Identifiers
- 991005541787907891
- Copyright
- © 2003 Blackwell Publishing Ltd
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.286 Immunology & Hematology
- 1.286.845 Complement System
- Web Of Science research areas
- Genetics & Heredity
- Immunology
- ESI research areas
- Immunology