scholarly journals Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

2019 ◽  
Vol 6 (2) ◽  
pp. 201-211 ◽  
Author(s):  
Feifei Tao ◽  
Gary W. Beecham ◽  
Adriana P. Rebelo ◽  
Susan H. Blanton ◽  
John J. Moran ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Disease Type ◽  
Modifier Gene ◽  
Genome Wide Association ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Genome Wide ◽  
Tooth Disease

scholarly journals Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

2015 ◽  
Vol 62 (3) ◽  
pp. 664-672 ◽  
Author(s):  
Marie de Tayrac ◽  
Marie-Paule Roth ◽  
Anne-Marie Jouanolle ◽  
Hélène Coppin ◽  
Gérald le Gac ◽  
...  
Keyword(s):  
Association Study ◽  
Iron Metabolism ◽  
Genome Wide Association Study ◽  
Modifier Gene ◽  
Genome Wide Association ◽  
Genome Wide

scholarly journals Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicingSBF2 (MTMR13)genetic variant: a new spontaneous clinical model

PeerJ ◽  
2019 ◽  
Vol 7 ◽  
pp. e7983 ◽  
Author(s):  
Nicolas Granger ◽  
Alejandro Luján Feliu-Pascual ◽  
Charlotte Spicer ◽  
Sally Ricketts ◽  
Rebekkah Hitti ◽  
...  
Keyword(s):  
Genetic Variant ◽  
Chromosome 21 ◽  
Genome Wide Association ◽  
Splice Donor Site ◽  
Positional Candidate ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Genome Wide ◽  
A Genome ◽  
Tooth Disease

BackgroundCharcot-Marie-Tooth (CMT) disease is the most common neuromuscular disorder in humans affecting 40 out of 100,000 individuals. In 2008, we described the clinical, electrophysiological and pathological findings of a demyelinating motor and sensory neuropathy in Miniature Schnauzer dogs, with a suspected autosomal recessive mode of inheritance based on pedigree analysis. The discovery of additional cases has followed this work and led to a genome-wide association mapping approach to search for the underlying genetic cause of the disease.MethodsFor genome wide association screening, genomic DNA samples from affected and unaffected dogs were genotyped using the Illumina CanineHD SNP genotyping array.SBF2and its variant were sequenced using primers and PCRs. RNA was extracted from muscle of an unaffected and an affected dog and RT-PCR performed. Immunohistochemistry for myelin basic protein was performed on peripheral nerve section specimens.ResultsThe genome-wide association study gave an indicative signal on canine chromosome 21. Although the signal was not of genome-wide significance due to the small number of cases, theSBF2(also known asMTMR13)gene within the region of shared case homozygosity was a strong positional candidate, as 22 genetic variants in the gene have been associated with demyelinating forms of Charcot-Marie-Tooth disease in humans. Sequencing ofSBF2in cases revealed a splice donor site genetic variant, resulting in cryptic splicing and predicted early termination of the protein based on RNA sequencing results.ConclusionsThis study reports the first genetic variant in Miniature Schnauzer dogs responsible for the occurrence of a demyelinating peripheral neuropathy with abnormally folded myelin. This discovery establishes a genotype/phenotype correlation in affected Miniature Schnauzers that can be used for the diagnosis of these dogs. It further supports the dog as a natural model of a human disease; in this instance, Charcot-Marie-Tooth disease. It opens avenues to search the biological mechanisms responsible for the disease and to test new therapies in a non-rodent large animal model. In particular, recent gene editing methods that led to the restoration of dystrophin expression in a canine model of muscular dystrophy could be applied to other canine models such as this before translation to humans.

Genome wide association study on memory in schizophrenia patients and unaffected probands

2009 ◽  
Vol 42 (05) ◽  
Author(s):  
B Konte ◽  
I Giegling ◽  
AM Hartmann ◽  
H Konnerth ◽  
P Muglia ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Genome Wide

1701-P: Genome-Wide Association Study Identifies Novel Potential Associations with Birth Weight in a Southwestern American Indian Population

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 1701-P
Author(s):  
LAUREN E. WEDEKIND ◽  
WEN-CHI HSUEH ◽  
SAYUKO KOBES ◽  
MUIDEEN T. OLAIYA ◽  
WILLIAM C. KNOWLER ◽  
...  
Keyword(s):  
Birth Weight ◽  
American Indian ◽  
Association Study ◽  
Indian Population ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
American Indian Population ◽  
Genome Wide

The First Genome-Wide Association Study (GWAS) for Type 2 Diabetes in Youth from the Progress in Diabetes Genetics in Youth (ProDiGY) Collaboration

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 1703-P ◽  
Author(s):  
SHYLAJA SRINIVASAN ◽  
JENNIFER TODD ◽  
LING CHEN ◽  
JASMIN DIVERS ◽  
SAM GIDDING ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Genome Wide ◽  
Diabetes Genetics ◽  
Diabetes In Youth
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