|
Congenital Hypothyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Gene variants have been reported to be associated with congenital hypothyroidism (CH), the purpose of this study was to analyze the mutation spectrum and prevalence of 12 known causative genes (TSHR, PAX8, NKX2.1, NKX2.5, FOXE1, DUOX2, TG, TPO, GLIS3, NIS, SLC26A4 and DEHAL1) in CH in China.
|
28215547 |
2017 |
|
Congenital Hypothyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date.
|
28253873 |
2017 |
|
Congenital Hypothyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.
|
16715098 |
2006 |
|
Congenital Hypothyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
The association of permanent neonatal diabetes and congenital hypothyroidism was first reported in 2003 and subsequently led to the identification GLIS3 as the mutation responsible for this presentation.
|
28648506 |
2017 |
|
Congenital Hypothyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We also report the first case of a recessive GLIS3 mutation causing neonatal diabetes and congenital hypothyroidism in a child from a non-consanguineous pedigree, highlighting the importance of molecular genetic testing in any patient with this phenotype.
|
21139041 |
2011 |
|
Congenital Hypothyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Loss of GLIS3 function in humans and mice leads to the development of several pathologies, including neonatal diabetes and congenital hypothyroidism, polycystic kidney disease, and infertility.
|
29779043 |
2018 |
|
Congenital Hypothyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Deficiency in Krüppel-like zinc finger transcription factor GLI-similar 3 (GLIS3) in humans is associated with the development of congenital hypothyroidism.
|
29083325 |
2017 |
|
Congenital Hypothyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The Glis3 mutant mice have been characterized for their propensity to develop congenital hypothyroidism, polycystic kidney disease, and some types of cancer.
|
28523428 |
2017 |
|
Congenital Hypothyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism.
|
29146476 |
2018 |
|
Congenital Hypothyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations in the GLIS3 gene have been typically associated with Neonatal Diabetes and Congenital Hypothyroidism (CH) in a syndrome called NDH.
|
31797737 |
2020 |
|
Congenital Hypothyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report the first case of a patient with a compound heterozygous mutation in GLIS3 who did not present with congenital hypothyroidism.
|
26259131 |
2015 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our results indicate the associations of GLIS3 locus with type 2 diabetes and impaired fasting glucose in Chinese Hans, partially mediated through impaired beta-cell function.
|
21747906 |
2011 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The GLIS3 SNP (rs180867004) associated with T2DM only in men (P = .00006, OR = 1.94 [1.40-2.68]).
|
27862917 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
Biomarker
|
disease |
BEFREE |
Four of eight T1D-specific regions contained known type 2 diabetes (T2D) candidate genes (COBL, GLIS3, RNLS and BCAR1), suggesting a shared cellular etiology.
|
26053495 |
2015 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We analyzed nine single-nucleotide polymorphisms (SNPs), including rs340874 (PROX1), rs4607517 (GCK), rs2191349 (DGKB-TMEM195), rs7034200 (GLIS3), rs10885122 (ADRA2A), rs174550 (FADS1), rs11605924 (CRY2), rs10830963 (MTNR1B) and rs35767 (IGF1). rs340874 (PROX1) and rs174550 (FADS1) were significantly associated with T2D (P=0.0078, OR: 1.12; and P=0.0071, OR: 1.12, respectively).
|
22992776 |
2012 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association studies revealed that GLIS3 variants are associated with both common type 1 and type 2 diabetes.
|
27813676 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
With the exception of four SNPs (CMIP rs16955379, PEPD rs3786897, PSMD6 rs831571, ZFAND3 rs9470794), the other SNPs had the same direction of effect (odds ratio [OR]>1.0) as in the original reports, especially GLIS3 rs7041847 and KCNK16 rs1535500 were significantly associated with type 2 diabetes (rs1535500: p=0.005, OR=1.224, 95% CI 1.062-1.409; rs7041847: p=0.035, OR=1.118, 95% CI 1.070-1.388).
|
31145772 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
Biomarker
|
disease |
BEFREE |
In addition, GLIS3 is also required for the compensatory β cell proliferation and mass expansion in response to insulin resistance, which if disrupted may predispose to T2D.
|
27899417 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The GLIS3 gene region has also been identified as a susceptibility risk locus for both type 1 and type 2 diabetes.
|
23737756 |
2013 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Five SNPs exhibited associations with pediatric-onset T2D in the combined case-parent trio and case-control analysis: LINGO/rs10968576 (odds ratio [OR] 1.82, P = 0.003), POC5/rs2112347 (OR 1.96, P = 2.4E-5), RPS10-NUDT3/rs206936 (OR 1.40, P = 0.023), GLIS3/rs7034200 (OR 2.34, P = 1.2E-6), and VEGFA/rs6905288 (OR 1.58, P = 0.015).
|
30652413 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Single nucleotide polymorphisms in GLIS3 genes have been associated with increased risk of several diseases, including type 1 and type 2 diabetes, glaucoma, and neurological disorders.
|
29779043 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Naturally-occurring coding polymorphisms in Glis3 in the Goto-Kakizaki rat model of type 2 diabetes were associated with increased insulin production in vitro and in vivo, suggestive alteration of autophagy in PC12 and INS1 and abnormal neurogenesis in hippocampus neurons.
|
28911974 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
HHEX, HMGA2, GLIS3, MTNR1B and PARK2) and some overlap with SNPs associated with T2D (e.g. rs3821943 near WFS1 and rs508419 near ANK1).
|
31123324 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
GLIS3 rs7034200 and GRK5 rs10886471 were significantly associated with increased T2DM risk (GLIS3 rs7034200 under dominant model: P=0.0307; GRK5 rs10886471 under recessive model: P=0.0092).
|
26919830 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.500 |
Biomarker
|
disease |
BEFREE |
SNPs from GIPR, TCF7L2, CRY2, GLIS3 and SLC30A8 were also associated with type 2 diabetes (p = 0.0487∼2.0×10(-8)).
|
21103350 |
2010 |