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Series GSE219272 Query DataSets for GSE219272
Status Public on Apr 30, 2023
Title Study of variants associated with Fuchs corneal endothelial dystrophy cases without expansion of CTG18.1 repeats
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
Summary Fuchs' endothelial corneal dystrophy (FECD) is an inherited bilateral eye disease associated with a reduction in the density and functionality of the corneal endothelium. FECD is a genetic disease with autosomal-dominant inheritance. Genetic variants in the TCF4 gene have the most direct association with sporadic late-onset FECD in Caucasian patients. Association of the intronic single-nucleotide polymorphism (SNP) rs613872 in TCF4 gene with FECD was discovered in the Genome-Wide Association Study (GWAS) performed by Baratz et al. (2010; doi: 10.1056/NEJMoa1007064).The most specific genetic marker of the late-onset FECD also in TCF4 gene - the CTG18.1 expansion of trinucleotide repeats was discovered by Wieben et al. (2012; doi: 10.1371/journal.pone.0049083). Expansion of the CTG18.1 trinucleotide repeats is detected in approximately 70% of FECD patients of European descent populations and considered to be causal for FECD. Later the additional bigger GWAS on 1404 FECD cases and 2564 controls was conducted by Afshari with coauthors (2017; doi: 10.1038/ncomms14898). However, there was no information on the CTG18.1 expansion status available for the whole set of participants. Participants of our set were genotyped for CTG181.1 expansion. We used our set to mark the haplotype associated with the CTG181.1 expanded allele.
 
Overall design The overall set included 31 sample. There are two groups divided by condition and the CTG18.1 expansion status: patients with Fuchs endothelial corneal dystrophy without CTG18.1 expansion (n = 26) and control group with CTG18.1 expansion (n = 5). All of the patients from the Fuchs endothelial corneal dystrophy group were Caucasian.
 
Contributor(s) Skorodumova LO, Iulmetova LN
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Submission date Dec 02, 2022
Last update date Apr 30, 2023
Contact name Liubov Skorodumova
E-mail(s) lo.skorodumova@gmail.com
Organization name Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency
Lab Human Molecular Genetics
Street address Malaya Pirogovskaya st., 1A
City Moscow
ZIP/Postal code 119435
Country Russia
 
Platforms (1)
GPL32909 InfiniumOmni2-5-8v1-5_A1
Samples (31)
GSM6781635 45_1: blood_FECD_noexp_1
GSM6781636 49_2: blood_FECD_noexp_2
GSM6781637 50_1: blood_FECD_noexp_3
Relations
BioProject PRJNA907846

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE219272_Matrix_processed.tab.gz 999.6 Mb (ftp)(http) TAB
GSE219272_Matrix_signal_intensities.tab.gz 554.0 Mb (ftp)(http) TAB
Processed data are available on Series record

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