Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy

Journal article


Publication Details

Author(s): Okumura N, Hayashi R, Nakano M, Tashiro K, Yoshii K, Aleff R, Butz M, Highsmith EW, Wieben ED, Fautsch MP, Baratz KH, Komori Y, Ueda E, Nakahara M, Weller J, Tourtas T, Schlötzer-Schrehardt U, Kruse F, Koizumi N
Journal: Cornea
Publication year: 2019
Volume: 38
Journal issue: 7
Pages range: 799-805
ISSN: 0277-3740
eISSN: 1536-4798


Abstract

PURPOSE: To investigate single nucleotide polymorphisms (SNPs) and trinucleotide repeat (TNR) expansion in the transcription factor 4 (TCF4) gene in a large cohort of German patients with Fuchs endothelial corneal dystrophy (FECD). METHODS: Genomic DNA was obtained from 398 patients with FECD and from 58 non-FECD controls. Thirty-seven previously reported SNPs were evaluated by genotyping. The 398 FECD samples were analyzed for TNR expansions by short tandem repeat assays and Southern blotting. The possible associations between the TNR length and clinical parameters (age, sex, visual acuity, and central corneal thickness) were analyzed in 132 patients. RESULTS: The SNPs in COL8A2, TCF8, LOXHD1, and AGBL1 showed no heterogeneity in 36 cases, although SLCA411 showed 3 nonsense mutations. SNPs were detected for TCF4 (rs613872, rs2123392, rs17089887, rs1452787, and rs1348047), but only rs613872 showed a significant association with FECD (P = 9.93 × 10). Overall, 315/398 (79%) patients harbored TNR lengths >50, whereas no non-FECD controls harbored TNR lengths >50. The TCF4 SNP rs613872 genotype was TT: 39 (67%), TG: 18 (31%), and GG: 1 (2%) in non-FECD controls; TT: 39 (47%), TG: 38 (46%), and GG: 6 (7%) in FECD cases harboring TNR <50; and TT: 23 (8%), TG: 224 (79%), and GG: 38 (13%) in FECD cases harboring TNR >50 (P = 2.93 × 10). No significant association was detected between the TNR length and clinical parameters. CONCLUSIONS: Our large German cohort demonstrated a significant association between the risk allele G in rs613872 and FECD, irrespective of TNR expansion, although this risk allele was more frequent in FECD cases with TNR expansion than without.


FAU Authors / FAU Editors

Kruse, Friedrich Prof. Dr.
Lehrstuhl für Augenheilkunde
Schlötzer-Schrehardt, Ursula apl. Prof. Dr.
Medizinische Fakultät


External institutions with authors

Doshisha University / 同志社大学
Kyoto Prefectural University of Medicine / 京都府立医科大学
Mayo Clinic


How to cite

APA:
Okumura, N., Hayashi, R., Nakano, M., Tashiro, K., Yoshii, K., Aleff, R.,... Koizumi, N. (2019). Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy. Cornea, 38(7), 799-805. https://dx.doi.org/10.1097/ICO.0000000000001952

MLA:
Okumura, Naoki, et al. "Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy." Cornea 38.7 (2019): 799-805.

BibTeX: 

Last updated on 2019-26-06 at 11:08