Objective:

The association between transforming growth factor beta 1 (TGF-β1) and primary open angle glaucoma (POAG) has been scarcely studied. The aim of this study was to explore the association between functional single nucleotide polymorphisms (PNU) in the TGF-β1 gene; -509C/T (rs1800469), -800G/A (rs1800468) and +915G/C (rs1800471) with POAG in a Mexican population.

Method:

The PNUs were genotyped by real time polymerase chain reaction. Allelic, genotypic, haplotypic and model-based (dominant, recessive, codominant and overdominant) associations of the PNUs with POAG were analyzed with Chi square test and logistic regression.

Results:

237 non-related Mexican subjects were included; 135 were POAG patients and 102 were control subjects. The minor allele from the -800G/A PNU conferred a significant risk for POAG (oddsratio [OR]: 3.38; confidence interval [CI]: 1.46-8.23; p = 0.0051). Concurrently, in the model-based analysis, the codominant (OR: 3.29; CI: 1.18-9.14; p = 0.018), dominant (OR: 3.46; CI: 1.36-8.82; p = 0.0046) and overdominant models (OR: 3.18; CI: 1.14-8.82; p = 0.016) showed an increase in POAG risk with the GA, GA-AA and GA genotypes, respectively. Besides, the -509C/T PNU conferred protection in the overdominant model (OR: 0.55; CI: 0.32-0.94; p = 0.028) with the CT genotype. Haplotype analysis showed that carrying the C allele from the -509C/T, the A allele from the -800G/A, and the C allele from the +915G/C PNU, conferred an increased risk of POAG (OR: 2.74; CI: 1.20-6.25; p = 0.018).

Conclusions:

The PNU related to under expression (-800 G/A) of TGF-β1 was associated with risk of POAG while the PNU related to overexpression (-509C/T) with protection. These results may suggest new insights into the microenvironment of the trabecular meshwork.

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