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Association of TP53 polymorphisms with primary open-angle glaucoma: a meta-analysis
Yatu Guo1, Hongtuan Zhang, Xia Chen
1Tianjin Medical University, Tianjin, China.
Investigative Ophthalmology & Visual Science
|May 8, 2012
Summary
TP53 gene polymorphisms, specifically codon 72 and intron 3 16-bp insertion, are associated with primary open-angle glaucoma (POAG) risk. The codon 72 polymorphism showed increased POAG risk in Asian populations, while the intron 3 insertion was linked to decreased risk overall.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness worldwide.
- Genetic factors play a significant role in POAG pathogenesis, but specific gene associations require further elucidation.
- The TP53 tumor suppressor gene is involved in various cellular processes, including DNA repair and apoptosis, making it a candidate for glaucoma-related genetic studies.
Purpose of the Study:
- To conduct a systematic review and meta-analysis evaluating the association between TP53 gene polymorphisms and POAG risk.
- To investigate two specific TP53 polymorphisms: codon 72 in exon 4 and the 16 base-pair (bp) insertion in intron 3.
- To assess the influence of ethnicity and glaucoma subtypes on these genetic associations.
Main Methods:
- A comprehensive literature search was performed across multiple databases (Medline, Embase, Science Citation Index, Cochrane Library) up to January 20, 2012.
- Two independent investigators screened studies and extracted data.
- Pooled odd ratios (ORs) with 95% confidence intervals (CIs) were calculated to determine the strength of associations between TP53 polymorphisms and POAG, using statistical software.
Main Results:
- Nine studies on the TP53 codon 72 polymorphism (1930 cases, 1463 controls) and four on the intron 3 16-bp insertion (858 cases, 683 controls) were included.
- A significant association was found between the TP53 codon 72 genotype and increased POAG risk under a recessive model (OR = 1.31).
- The TP53 intron 3 16-bp insertion polymorphism was associated with a decreased POAG risk (OR = 0.75).
- Subgroup analysis revealed the codon 72 polymorphism's association with POAG risk was significant in Asian populations (OR = 1.36) but not in Caucasians.
Conclusions:
- The TP53 codon 72 and intron 3 16-bp insertion polymorphisms show evidence of influencing individual susceptibility to POAG.
- The effect of the TP53 codon 72 polymorphism on POAG risk appears to be ethnicity-dependent.
- Further research with larger sample sizes is recommended to confirm these genetic associations and their clinical implications.
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