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

Huang, Y.F., Wang, W., Han, J.Y., Wu, X.W., Zhang, S.T., Liu, C.J., Hu, Q.G., Xiong, P., Hamvas, R.M.J., Wood, N., Gong, F.L. and Bittles, A.H. (2003) Increased frequency of the mannose-binding lectin LX haplotype in Chinese systemic lupus erythematosus patients. European Journal of Immunogenetics, 30 (2). pp. 121-124.

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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.

Item Type: Journal Article
Publisher: Wiley-Blackwell
Copyright: © 2003 Blackwell Publishing Ltd
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