The significance of mannan-binding lectin gene alleles in patients with primary Sjo¨gren's syndrome

Aittoniemi, Janne; Pertovaara, Marja; Hulkkonen, Janne; Pasternack, Amos; Hurme, Mikko; Laippala, Pekka; Antonen, Jaakko

doi:10.1080/030097402320817095

Cited by 15 publications

(10 citation statements)

References 22 publications

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“…This association, however, is not observed in patients who did not produce anti-Ro52 autoantibodies [38]. Wang et al [40] 104 (143) Mullighan et al [42] 97 (106) Aittoniemi et al [43] 65 (138) Homozygous mutant allele Lupus and SS and rheumatoid factor…”

Section: Other Polymorphisms and Candidate Genes Ro52mentioning

confidence: 85%

“…This study group consisted of 97 patients with primary SS and 106 ethnically matched healthy control individuals from Australia. Similarly, Aittoniemi et al [43] did not find any difference in the frequency of MBL polymorphisms in a group of 65 patients with primary SS compared with 138 control individuals. However, they associated lower concentrations of MBL with the 52/W genotype in patients who also had less salivary gland destruction [43].…”

Section: Mannose-binding Lectinmentioning

confidence: 94%

“…Similarly, Aittoniemi et al [43] did not find any difference in the frequency of MBL polymorphisms in a group of 65 patients with primary SS compared with 138 control individuals. However, they associated lower concentrations of MBL with the 52/W genotype in patients who also had less salivary gland destruction [43]. This finding supports the possible role of MBL in the inflammatory process in primary SS, but has not been confirmed.…”

Section: Mannose-binding Lectinmentioning

confidence: 94%

“…Wang et al [40] 104 (143) Mullighan et al [42] 97 (106) Aittoniemi et al [43] 65 (138) Fas gene SS-Sjögren's syndrome; TAP-transporter associated with antigen processing; TNF␣-tumor necrosis factor-alpha.…”

Section: Mbl Promotermentioning

confidence: 98%

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The genetics of primary Sjögren’s syndrome

Sawalha¹,

Potts²,

Schmid³

et al. 2003

Curr Rheumatol Rep

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Primary Sjögren's syndrome is an autoimmune disease characterized clinically by dryness of the eyes and mouth. The use of different classification criteria for primary Sjögren's syndrome has led to dramatically different estimates of prevalence and incidence. Despite this, several genetic and environmental factors are thought to play a role in the susceptibility to primary Sjögren's syndrome, as is the current conceptual formulation of the pathogenesis of many other autoimmune maladies. Primary Sjögren's syndrome appears a complicated polygenic disorder with many genes interacting with environmental factors. Similar to many other polygenic autoimmune rheumatic diseases, human leukocyte antigen associations have been reported and confirmed. Additionally, other non-human leukocyte antigen candidate genes have been reported to reveal association with primary Sjögren's syndrome, but, in general, these effects are not confirmed. The authors review the human leukocyte antigen and non-human leukocyte antigen genetic associations herewith, knowing that new technologies are providing access to the entire genome for association studies. No doubt a much more comprehensive description of the genetics of this disorder will soon emerge.

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Section: Other Polymorphisms and Candidate Genes Ro52mentioning

confidence: 85%

Section: Mannose-binding Lectinmentioning

confidence: 94%

Section: Mannose-binding Lectinmentioning

confidence: 94%

Section: Mbl Promotermentioning

confidence: 98%

See 2 more Smart Citations

The genetics of primary Sjögren’s syndrome

Sawalha¹,

Potts²,

Schmid³

et al. 2003

Curr Rheumatol Rep

View full text Add to dashboard Cite

show abstract

“…Exon 1 of the MBL gene was amplified by polymerase chain reaction (PCR). Genotyping of codon 52 (CGT TGT; 52), 54 (GGC GAC; 54) and 57 (GGA GAA; 57) mutations was performed by restriction fragment length polymorphism (RFLP) as described elsewhere [9,10]. Alleles lacking these point mutations were classified as wild-type (w).…”

mentioning

confidence: 99%