Polymorphism in rs2229783 of the Alpha 1(XI) Collagen Gene Is Associated with Susceptibility to but not Severity of Kashin-Beck Disease in a Northwest Chinese Han Population / 生物医学与环境科学(英文)
Biomedical and Environmental Sciences
;
(12): 322-326, 2018.
Article
Dans Anglais
| WPRIM
| ID: wpr-690653
ABSTRACT
A case-control study was conducted to investigate associations between organophosphate pesticide (OP) exposure, aggression, impulsivity, and attempted suicide. The purpose of this study was to explore whether genomic polymorphisms in the alpha 1(XI) collagen gene (COL11A1) were associated with the risk and severity of Kashin-Beck disease (KBD). Twenty-two single nucleotide polymorphisms (SNPs) in COL11A1 were genotyped in 274 KBD cases and 249 healthy controls using the Sequenom MassARRAY system. The expression of type XI collagen (COL11A) in the knee articular cartilage of 22 KBD patients and 21 controls was analyzed by immunohistochemistry. Our results showed that the frequency distribution of genotypes of the rs2229783 polymorphism in COL11A1 was significantly different between the KBD and control groups (P = 0.0003). Moreover, the expression level of COL11A in cartilage was significantly lower in the KBD group than in the controls (t = 2.637, P = 0.02). However, no association was found between the rs2229783 and the severity of KBD, suggesting a role of COL11A1 in the susceptibility to but not the severity of KBD.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Études cas-témoins
/
Prédisposition génétique à une maladie
/
Polymorphisme de nucléotide simple
/
Collagène de type XI
/
Asiatiques
/
Maladie de Kashin-Beck
/
Génétique
/
Génotype
Type d'étude:
Étude observationnelle
/
Facteurs de risque
Limites du sujet:
Humains
langue:
Anglais
Texte intégral:
Biomedical and Environmental Sciences
Année:
2018
Type:
Article
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