Association of TCF4 polymorphisms and fuchs’ endothelial dystrophy: a meta-analysis

Li, Dan; Peng, Xiaoyan; Sun, Haibin

doi:10.1186/s12886-015-0055-6

Cited by 11 publications

(7 citation statements)

References 37 publications

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“…The following items were extracted: (1) the name of the first author; (2) the year of publication; (3) the origin country; (4) the racial descent of the study population; (5) the sample size of the cases and controls; (6) duration of diabetes; (7) gender ration (male, %); (8) HbA1c level; (9) the genotype frequency; (10) the genotyping methods; and (11) the HWE (for the studies in which there was no HWE assessment, we calculated this parameter) [ 26 ]. The Newcastle–Ottawa Scale (NOS) tools, which were recommended by Cochrane, were used to evaluate the quality of the eligible studies, like a previous study [ 27 ].…”

Section: Methodsmentioning

confidence: 99%

Association between a vascular endothelial growth factor gene polymorphism (rs2146323) and diabetic retinopathy: a meta-analysis

et al. 2015

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BackgroundVascular endothelial growth factor (VEGF) is thought to play an important role in the pathogenesis of diabetic retinopathy (DR). Previous studies have associated the VEGF rs2146323 polymorphism with the risk of DR. However, the results of these studies are inconsistent. A meta-analysis was performed to evaluate the association between the VEGF rs2146323 polymorphism and the risk of DR.MethodsThe PubMed, EMBASE, Web of Science and Google Scholar literature databases until March 2015 were searched. The differences in the studies were expressed in the form of an odds ratio (OR) and the corresponding 95 % confidence interval (CI). Heterogeneity among the studies was tested using the I2 statistic based on the Q test.ResultsA total of four studies (598 cases and 709 controls) were included in the meta-analysis. A significant association was found involving the rs2146323 polymorphism in the dominant model (CA + AA VS. CC) (OR = 1.38, CI = 1.10–1.72, P = 0.005) and the co-dominant model (CA VS. CC) (OR = 1.37, CI = 1.08–1.74, P = 0.008).ConclusionsOur meta-analysis confirmed the association between the VEGF rs2146323 polymorphism and the risk of DR.

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Section: Methodsmentioning

confidence: 99%

Association between a vascular endothelial growth factor gene polymorphism (rs2146323) and diabetic retinopathy: a meta-analysis

et al. 2015

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“…[ 9 10 ] Single nucleotide polymorphisms (rs17595731, rs9954153, rs613872, and rs2286812) and CTG trinucleotide repeat expansion in the intron of TCF4 gene are associated with an increased risk for sporadic late-onset FECD and have been significantly replicated in cohorts from different populations. [ 11 12 13 14 15 16 17 18 19 20 21 ] In this study, the association of these polymorphisms and CTG trinucleotide repeat expansion in the intronic region of TCF4 gene to late-onset FECD has been comprehensively assessed.…”

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confidence: 99%

Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study

Rao

Arokiasamy

Rachapalli

et al. 2017

Indian J Ophthalmol

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Purpose:Fuchs endothelial corneal dystrophy (FECD) is a progressive degenerative disease of the corneal endothelium. It is genetically heterogeneous and follows either an autosomal dominant or sporadic pattern of inheritance. Here, we have explored the association of four previously reported intronic single nucleotide polymorphisms and intronic CTG repeat expansions in TCF4 gene to FECD in an Indian cohort.Methods:The cohort consisting of 52 sporadic late-onset cases, 5 early-onset cases, and 148 controls was taken for the study. rs2286812 and rs613872 were genotyped by allele specific polymerase chain reaction (ASPCR) and PCR-based restriction digestion, respectively; rs17595731 and rs9954153 were genotyped by Taqman assay using real-time PCR. The quantitative assessment of the CTG repeat region was performed by PCR/Sanger DNA sequencing. The repeats were assessed qualitatively by short tandem repeat and triplet repeat primed PCR assays. The statistical analysis was performed using two-tailed Fisher's exact probability test.Results:SNPsrs613872 (G/T) for the ‘G’ allele (P value: 4.57 × 10−5) and rs17595731 (C/T) for the ‘C’ allele (P value: 1.87 × 10−5), respectively, showed a significant association to sporadic late-onset FECD. CTG repeat expansions were found to be associated with FECD with a P value = 2.4 × 10−3.Conclusion:rs613872, rs17595731, and CTG repeat expansions in intronic region of TCF4 are associated with increased risk of sporadic late-onset FECD in the Indian cohort studied.

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“…endothelium (1,2). FECD is characterized by thickening of the Descemet's membrane and microscopic collagenous protuberances known as guttae (3).…”

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confidence: 99%

“…TCF4 gene is located on chromosome 18q (25), encodes a transcription factor protein E2-2, which is expressed in the cornea during development, and is involved in regulating cellular growth and differentiation (26). TCF4 gene mutations have been associated with several diseases, such as schizophrenia, primary sclerosing cholangitis and Pitt-Hopkins syndrome (2,24). TCF4 polymorphisms have also attracted attention for their association with FECD (24,27).…”

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confidence: 99%

“…TCF4 polymorphisms have also attracted attention for their association with FECD (24,27). More specifically, it has been suggested by Baratz et al that a significant association exists between FECD and four single nucleotide polymorphisms (SNPs) (rs17595731, rs613872, rs9954153, and rs2286812) of the TCF4 gene (2,24). However, this suggestion was rejected by a study performed in India, underlying that differences in ethnic groups may affect this association (28).…”

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confidence: 99%

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TCF4andCOL8A2Gene Polymorphism Screening in a Greek Population of Late-onset Fuchs Endothelial Corneal Dystrophy

Moschos

Diamantopoulou

Gouliopoulos

et al. 2019

In Vivo

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Background/Aim: Fuchs' endothelial corneal dystrophy (FECD) is a hereditary, progressive, bilateral, and irreversible disorder of the corneal endothelium. The purpose of this study was to develop a novel, accurate and highthroughput real-time polymerase chain reaction (PCR) method and melting-curve analysis in order to genotype the rs613872 polymorphism in the transcription factor 4 (TCF4) gene and to implement it on a well-ascertained sample of 22 Greek FECD patients and 58 healthy individuals, age-and sexmatched. Patients and Methods: DNA was extracted from blood samples, which were screened with the DNA sequencing method in order to detect the g.31753T>G/p.L450W (rs8035192) and g.31767C>A/p.Q455K (rs8035191) mutations in a COL8A2 genomic region. Results: TCF4 risk G allele frequency increased to 48% in FECD patients compared to 17% in healthy-subjects [OR=4.82 (95% CI=1.98-11.73)]. No p.L450W and p.Q455K COL8A2 gene mutations were detected. Conclusion: We confirmed that rs613872 in the TCF4 gene is strongly and statistically associated with late-onset FECD in a Greek population.Fuchs' endothelial corneal dystrophy (FECD) is a hereditary, progressive, bilateral, and irreversible disorder of the corneal 963 This article is freely accessible online.

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Association of TCF4 polymorphisms and fuchs’ endothelial dystrophy: a meta-analysis

Cited by 11 publications

References 37 publications

Association between a vascular endothelial growth factor gene polymorphism (rs2146323) and diabetic retinopathy: a meta-analysis

Association between a vascular endothelial growth factor gene polymorphism (rs2146323) and diabetic retinopathy: a meta-analysis

Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study

TCF4andCOL8A2Gene Polymorphism Screening in a Greek Population of Late-onset Fuchs Endothelial Corneal Dystrophy

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