The VDR gene confers a genetic predisposition to Graves' disease and Graves' ophthalmopathy in the Southwest Chinese Han population.
Adult
Alleles
Asian People
Case-Control Studies
Deoxyribonucleases, Type II Site-Specific
/ chemistry
Female
Gene Expression
Gene Frequency
Genetic Predisposition to Disease
Genome-Wide Association Study
Graves Ophthalmopathy
/ ethnology
Humans
Interleukin-17
/ genetics
Male
Middle Aged
Polymorphism, Restriction Fragment Length
Polymorphism, Single Nucleotide
RNA, Messenger
/ genetics
Receptors, Calcitriol
/ genetics
Transforming Growth Factor beta1
/ genetics
Graves’ disease
Graves’ ophthalmopathy
Single nucleotide polymorphism
Vitamin D receptor
Journal
Gene
ISSN: 1879-0038
Titre abrégé: Gene
Pays: Netherlands
ID NLM: 7706761
Informations de publication
Date de publication:
15 Aug 2021
15 Aug 2021
Historique:
received:
13
04
2021
revised:
25
05
2021
accepted:
27
05
2021
pubmed:
3
6
2021
medline:
24
6
2021
entrez:
2
6
2021
Statut:
ppublish
Résumé
Graves' disease (GD) is a common autoimmune disease manifesting with diffuse symmetric thyroid gland enlargement, pretibial myxedema, and Graves' ophthalmopathy (GO). Recently, the vitamin D receptor (VDR) gene has been linked to various autoimmune diseases. This study aimed to investigate the association of VDR gene polymorphisms with susceptibility to GD and GO in the Southwest Chinese Han population. A two-stage association study was performed in 1,209 controls and 650 GD patients by PCR-RFLP assay. Real-time PCR and ELISA were carried out to quantify gene expression and cytokine production. The first-stage study showed that the frequency of VDR/Apa I AA genotype was significantly increased in GD (Pc = 1.67 × 10 The VDR/Apa I polymorphism is significantly associated with GD and GO, and it may be involved in the development of GD and GO by influencing VDR mRNA expression levels and the secretion levels of cytokines.
Identifiants
pubmed: 34077777
pii: S0378-1119(21)00344-9
doi: 10.1016/j.gene.2021.145750
pii:
doi:
Substances chimiques
Interleukin-17
0
RNA, Messenger
0
Receptors, Calcitriol
0
TGFB1 protein, human
0
Transforming Growth Factor beta1
0
VDR protein, human
0
Deoxyribonucleases, Type II Site-Specific
EC 3.1.21.4
GGGCCC-specific type II deoxyribonucleases
EC 3.1.21.4
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
145750Informations de copyright
Copyright © 2021 Elsevier B.V. All rights reserved.