Association of Common Variants in TCF4 and PTPRG with Fuchs' Corneal Dystrophy: A Systematic Review and Meta-Analysis

Abstract

TopicA meta-analysis of TCF4 and PTPRG gene variants in Fuchs' corneal dystrophy (FCD).Clinical relevanceTo identify novel genetic markers in patients with FCD in different ethnic populations.MethodsMEDLINE and EMBASE were searched for eligible genetic studies on TCF4 and PTPRG in FCD. Odds ratios (OR) and 95% confidence intervals (CI) of each single-nucleotide polymorphism (SNP) in allelic, dominant and recessive models were estimated using fixed-effect model if I2<50% in the test for heterogeneity, otherwise the random effects model was used.ResultsThirty-three records were obtained, with 8 being suitable for meta-analysis, which included five SNPs in TCF4 and two in PTPRG. There were 1610 FCD patients and 1565 controls tested for TCF4 rs613872. This SNP was strongly associated with FCD in Caucasians (P = 5.0×10−106), with the risk allele G conferring an OR of 3.95 (95% CI: 3.49–4.46). A further 4 TCF4 SNPs (rs17595731, rs2286812, rs618869 and rs9954153) were also significantly associated with FCD in Caucasians (P<10−8). However, we found no SNP associated with FCD in Chinese. In addition, there was no significant association between FCD and PTPRG.Conclusion TCF4 rs613872 is strongly associated with FCD in Caucasians but not in Chinese, which may suggest ethnic diversity in FCD SNP associations. SNPs in PTPRG were not associated with FCD in Caucasians or Chinese populations. Results of this meta-analysis indicate the need for larger-scale and multi-ethnic genetic studies on FCD to further explore the associated gene variants and their roles on the mechanism and genetic basis of FCD.

Association of Common Variants in LOX with Keratoconus: A Meta-Analysis

“…Familial studies were excluded due to the relationships between individuals biasing the allele counting analysis methods employed for meta-analysis; (2) subjects from case and control groups should come from the same geographically and temporally defined population, and control subjects were free of keratoconus or any form of ocular diseases; (3) Sufficient data for estimating odds ratio (OR) with 95% confidence interval (CI). Data from non-overlapped sample cohorts from the same study were considered as different sample collections as introduced previously [ 18 ].…”

E Proteins and ID Proteins: Helix-Loop-Helix Partners in Development and Disease

“…Multiple SNPs in E2-2 are associated with Fuchs corneal dystrophy (Baratz et al, 2010; Li et al, 2011; Thalamuthu et al, 2011; Eghrari et al, 2012; Stamler et al, 2013; Lau et al, 2014), a common, dominant, progressive, late onset disease in which endothelial cells are gradually lost from the internal surface of the cornea. The hallmark of this disease is the increasing density of tiny bumps, termed guttae, that form on the cornea, loss of the fluid-pumping function of the endothelium cells, decrease in corneal transparency and resultant loss of vision.…”

Corneal Backscatters as an Objective Index for Assessing Fuchs’ Endothelial Corneal Dystrophy: A Pilot Study

“…And the Na-K ATPase pump site density in endothelial cells may be decreased progressively in FECD, resulting in stromal edema and eventually full thickness edematous opacity [ 6 , 7 ]. Although the etiology of FECD is not fully understood, the genetic factors are suggested to be a major risk factor [ 7 – 9 ].…”