Mannose‐binding lectin polymorphisms and susceptibility to infection in systemic lupus erythematosus

Garred, Peter; Madsen, Hans O.; Halberg, P; Petersen, Jørgen; Kronborg, Gitte; Svejgaard, A.; Andersen, Vagn; Jacobsen, Søren

doi:10.1002/1529-0131(199910)42:10<2145::aid-anr15>3.0.co;2-#

Cited by 199 publications

(157 citation statements)

References 30 publications

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“…The association of MBL promoter polymorphisms with SLE has been reported in Hong Kong Chinese, 24 while in Caucasians, the genetic polymorphisms in the promoter region as well as the structural variants in exon 1 are not significant risk factors for SLE. 25 In conclusion, the present study showed that by using PCR/SSCP analysis of all the four exons of the MBL gene, only G54D mutation is common in Japanese and the other mutations including those previously reported in other ethnic groups are rare. In addition, G54D mutation was not associated with our SLE and RA patients.…”

supporting

confidence: 57%

Mannose binding lectin (MBL) gene mutation is not a risk factor for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Japanese

et al. 2000

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Mannose binding lectin (MBL) deficiency may be associated with increased susceptibility to infection and autoimmune disorders, such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). In the present study, we performed for the first systematic search for mutations in all the four exons of the MBL gene using polymerase chain reaction (PCR)/single-strand conformation polymorphism (SSCP) analysis. Of 49 healthy Japanese individuals studied, only the previously reported mutation at the codon 54 (substitution from Gly to Asp; G54D) was identified. The allele frequencies of G54D in 105 healthy Japanese individuals, 95 SLE patients and 59 RA patients, were 0.233, 0.226 and 0.178, respectively, which were not significantly different. In addition, two polymorhisms at positions of −550 and −221 in the promoter region were not associated with SLE and RA. It is unlikely that MBL deficiency plays a major role in the pathogenesis of SLE and RA in Japanese. Genes and Immunity (2000) 1, 464-466.Keywords: mannose binding lectin; mannose binding protein; Complement; autoimmune diseases; systemic lupus erythematosus; rheumatoid arthritis Mannose binding lectin (MBL), also known as mannose or mannan binding protein, is a member of the collectin family of proteins, characterized by the presence of collagen-like domains and carbohydrate recognition lectin domains. 1 MBL binds to high mannose and Nacetyl-glucosamine oligosaccharides present on the cell surface of yeasts, bacteria and viruses and serves as the initiator of the third pathway of complement system (lectin pathway). 2 MBL is considered to be involved in the innante immunity of host defence that works prior to the establishment of adaptive immune system. Previous studies suggest that homozygous deficiency of MBL is associated with recurrent infections in children 3,4 as well as increased susceptibility and shorter survival of human immunodeficiency virus (HIV) patients. 5,6 Although there are controversies, association of MBL deficiency with chronic hepatitis virus type B (HBV) infection 7 and its progression, 8 and with poor response to interferon in chronic hepatitis virus type C (HCV) 9 has also been reported. In addition MBL deficiency has also been implicated in the pathogenesis of autoimmune diseases. Studies in the UK and Spanish

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confidence: 57%

Mannose binding lectin (MBL) gene mutation is not a risk factor for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Japanese

et al. 2000

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“…118 Patients who are homozygous for the variant alleles are at risk of immunodeficiency. 121 Dysfunctional MBL variants have been studied in several SLE populations. A mutation at codon 54 in exon 1 of the MBL gene was analyzed in a Spanish population of 50 SLE patients and 49 matched controls.…”

Section: Fas and Fas Ligandmentioning

confidence: 99%

The genetics of systemic lupus erythematosus: putting the pieces together

2002

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“…12,13 This protective effect contrasts with the increased susceptibility of homozygotes (for the mutant MBL alleles) to various infections. [28][29][30][31] Similarly, subjects homozygous for the wild-type MBL allele display an increased risk of bacterial infections including tuberculosis. 12,13,32 To summarize, susceptibility to various infections, including HIV, increases progressively with the following MBL genotypes: (i) heterozygotes, (ii) homozygous for wild-type allele and (iii) homozygous or compound heterozygous for the mutant alleles.…”

Section: Mbl Genotypes and Infectionsmentioning

confidence: 99%

Mannose-binding lectin alleles in sub-Saharan Africans and relation with susceptibility to infections

Mombo

Ossari

et al. 2003

Genes Immun

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Mannose-binding lectin (MBL) plays an important role in the early stages of primary infections and during the decay of maternal antibodies in infants. Various studies have looked at the relation between serum MBL concentrations, MBL gene alterations and susceptibility to infections. We investigated the distribution of variant MBL alleles in 626 unrelated adults from sub-Saharan African countries and looked for a potential relation between these alleles and the incidence, prevalence and death rate of tuberculosis for sub-Saharan Africa. We also evaluated the relation between MBL genotypes and susceptibility to HIV-1 infection in 188 Gabonese adults. We found that (i) the prevalence of the common variant MBL alleles is correlated with the incidence of tuberculosis in sub-Saharan Africa (r ¼ 0.565), (ii) the mutant MBL G57E allele, in either the homozygous or compound heterozygous state, is associated with susceptibility to HIV-1 infection in the Gabonese population (P ¼ 0.019).Our data plus those in the literature suggest that individuals who are homozygous for the mutant MBL alleles display increased susceptibility to infections. Interestingly, we found that individuals who are heterozygous for MBL mutations are much less susceptible to infections than those who are homozygous for the wild-type MBL allele.

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Mannose‐binding lectin polymorphisms and susceptibility to infection in systemic lupus erythematosus

Cited by 199 publications

References 30 publications

Mannose binding lectin (MBL) gene mutation is not a risk factor for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Japanese

Mannose binding lectin (MBL) gene mutation is not a risk factor for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Japanese

The genetics of systemic lupus erythematosus: putting the pieces together

Mannose-binding lectin alleles in sub-Saharan Africans and relation with susceptibility to infections

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