Purchase this article with an account.
Gonzalez-de la Rosa Alejandro, JOSE NAVARRO-PARTIDA, Nicole Macriz-Romero, RAMSES ROSALES DIAZ, ABRIL BERNARDETTE MARTINEZ-RIZO, ARTURO SANTOS; Proapoptotic TLR4 polymorphism is more frequent in Stargardt disease patients. A family study.. Invest. Ophthalmol. Vis. Sci. 2017;58(8):2776.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Inherited macular dystrophies are characterized by bilateral visual loss and generally symmetrical macular abnormalities on ophthalmoscopy. Stargardt macular dystrophy (STGD) is the most common inherited macular dystrophy with an autosomal recessive mode of inheritance. Retinal pigment epithelium cells in STGD patients exhibits a propensity for apoptosis. Previously, single nucleotide polymorphisms (SNPs) in TLR4 gene have been related to apoptosis and inflammation response. Therefore, this study was undertaken to investigate whether TLR4 SNPs are associated with STGD on a family based study.
Four blood-related Mexican patients with clinical diagnosis of STGD (4 women) and 12 of their unaffected relatives were included. 109 subjects (40 men and 69 women; age, 63.28 ± 7.93 years) without macular affections or family history nor inherited macular dystrophies were used as control. SNPs rs4986790, rs1927911, rs12377632, rs2149356 and rs11536889 of the TLR4 gene were genotyped by a Taqman® Allelic Discrimination Assay.
The frequency of the minor allele of rs4986790 was significantly higher in the cases of STGD when comparing to control subjects (25% vs 1%, P= 0.0012). The genotype carrying the minor allele of rs4986790 was more frequent in the STGD cases (50%) when compared with their relatives and unrelated control subjects (8 and 2.75% respectively) in a significant manner (P= 0.0048). The allele and genotype frequencies of remaining SNPs were non-significant between cases and control subjects (P> 0.5). Unaffected relatives of STGD patients shown an allelic and genotypic frequencies similar to those found in control subjects.
Minor allele of the SNPs rs4986790 and genotypes carrying it were related to clinical STGD in one family. Interestingly, the rs4986790 has been described as promotor of apoptosis. Therefore, this TLR4 gene polymorphism should be considered as a diagnostic or prognostic genetic marker in future studies.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
This PDF is available to Subscribers Only