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Association between early onset and organ manifestations of systemic lupus erythematosus (SLE) and a down-regulating promoter polymorphism in the MBL2 gene |
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| Authors: | Jakab L Laki J Sallai K Temesszentandrási Gy Pozsonyi T Kalabay L Varga L Gombos T Blaskó B Bíró A Madsen H O Radics J Gergely P Füst G Czirják L Garred P Fekete B |
| Affiliation: | 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary. |
| Abstract: | The serum concentration of mannose-binding lectin (MBL) is genetically determined by a series of allelic polymorphisms in the MBL2 gene. Since several polymorphisms of the MBL2 gene have been suggested to be risk locus for systemic lupus erythematosus (SLE), we investigated MBL2 polymorphisms in 315 SLE patients from Hungary and 182 geographically matched healthy controls. Within the group of patients, we found that homozygotes for an MBL2 down-regulating promoter polymorphism at position -221 (YA to XA) (rs7096206) were significantly (p=0.017) younger at diagnosis than the other patients. The frequency of juvenile-onset SLE ( |
| Keywords: | SLE Systemic lupus erythematosus MBL MBL2 X/Y polymorphism MBL promoter polymorphism Juvenile-onset SLE Skin manifestations |
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