Objective-To investigate polymorphisms of both codon 54 allele and promoter
variants of the mannose binding lectin (MBL) gene in patients with primary
Sjogren's syndrome (SS).
Methods-Polymorphisms of codon 54 allele and promoter variants of the MBL g
ene in 104 patients with SS and 143 healthy controls were determined by pol
ymerase chain reaction-restriction fragment length polymorphism and allele
specific polymerase chain reaction respectively.
Results-The allele frequency of the wild type of MBL codon 54 was significa
ntly higher in patients with SS than in controls (0.836 v 0.741; p=0.011),
and the frequency of the homozygous wild type of MBL codon 54 was significa
ntly higher in patients with SS than in controls (0.692 v 0.539; p=0.024).
On the other hand, the allele frequencies of the MBL promoter gene did not
differ between patients and controls (chi (2)=4.01, df=2, p=0.135).
Conclusion-The polymorphism of the MBL gene may be one of the genetic facto
rs that determines susceptibility to SS.