Polymorphisms and haplotypes in MyD88 are associated with the development of sarcoidosis: a candidate-gene association study.

Détails

ID Serval
serval:BIB_083CA6D82427
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Polymorphisms and haplotypes in MyD88 are associated with the development of sarcoidosis: a candidate-gene association study.
Périodique
Molecular biology reports
Auteur(s)
Daniil Z., Mollaki V., Malli F., Koutsokera A., Antoniou K.M., Rodopoulou P., Gourgoulianis K., Zintzaras E., Vassilopoulos G.
ISSN
1573-4978 (Electronic)
ISSN-L
0301-4851
Statut éditorial
Publié
Date de publication
07/2013
Peer-reviewed
Oui
Volume
40
Numéro
7
Pages
4281-4286
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
Sarcoidosis is considered as a disorder of protracted immune response to an as yet unidentified causative agent that leads to granuloma formation. Material from M. tuberculosis and P. acne has been repeatedly detected in the sarcoidosis lesions, implying the involvement of the Toll-like receptor2 (TLR2) gene that responds to these intracellular pathogens. Since TLR2 association studies have produced controversial results, we sought to investigate whether the downstream signalling molecule MyD88 could be linked to disease susceptibility. We analyzed a total of 93 cases with sarcoidosis and of 89 controls for the most common MyD88 SNPs: -938C>A (rs4988453) and 1944C>G (rs4988457). There is evidence that the genotype distributions of both variants are associated with the development of sarcoidosis (p = 0.038 for -938C>A and p = 0.026 for 1944C>G). In particular, -938A and 1944G carriers were associated with risk of sarcoidosis [OR = 2.48 (1.23-5.02) and OR = 0.33 (0.14-0.76)], respectively, indicating dominance of the mutant alleles; however, the adjustment of the effect size for age and sex diminished the significance. The haplotype analysis showed association for the -938A/1944G haplotype (p < 0.001). Since genetic association studies have linked MyD88 to Hodgkin's lymphoma it is tempting to speculate that MyD88 may contribute to the granuloma formation that characterizes sarcoidosis.
Mots-clé
Adult, Alleles, Case-Control Studies, Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Haplotypes, Humans, Linkage Disequilibrium, Male, Middle Aged, Myeloid Differentiation Factor 88/genetics, Odds Ratio, Polymorphism, Genetic, Polymorphism, Single Nucleotide, Sarcoidosis/genetics
Pubmed
Web of science
Création de la notice
19/07/2019 18:31
Dernière modification de la notice
21/08/2019 5:32
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