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

作者：Li, Dan; Peng, XiaoYan^*; Sun, HuiYu

来源：BMC Ophthalmology, 2015, 15(1): 61.

DOI：10.1186/s12886-015-0055-6

• CORNEAL-DYSTROPHY
• MISSENSE MUTATIONS
• REPEAT EXPANSION
• GENE
• CTG18.1
• PROTEIN
• RISK
• DISEASE
• LOCUS

Background: Studies investigating the associations between transcription factor 4 (TCF4) genetic polymorphisms and Fuchs' endothelial dystrophy (FED) have reported controversial results. Therefore, this meta-analysis aims to clarify the effects of TCF4 polymorphisms on FED risk.
Methods: A meta-analysis was conducted to assess the association between four single nucleotide polymorphisms (SNPs) inTCF4 and the risk of FED. Relevant studies were selected through an extensive search of PubMed, EMBASE, and the Web of Science databases. Pooled odds ratio (OR) and 95 % confidence interval (CI) were calculated using the random-effects model.
Results: Thirteen studies were included in this systematic review and meta-analysis. The pooled results showed that there was a strong positive association between the TCF4 rs613872 polymorphism and FED risk in all the genetic models tested (G allele vs. T allele: OR = 4.19, 95 % CI = 3.53-4.97; GG vs. GT/TT: OR = 4.27, 95 % CI = 2.54-7.19; GG/GT vs. TT: OR = 6.29, 95 % CI = 4.23-8.93; GG VS. TT: OR = 10.64, 95 % CI = 5.28-21.41; GT VS. TT: OR = 6.08, 95 % CI = 4.28-8.64). Statistic evidence was also detected for a significant association between three other SNPs and the risk of FED.
Conclusions: This meta-analysis suggested a genetic association between four TCF4 polymorphisms (rs613872, rs2286812, rs17595731, and rs9954153) and the risk of FED.

• 出版日期2015-6-19
• 单位北京地坛医院; 首都医科大学