Vol 17: WDR36 variants in East Indian primary open-angle glaucoma patients.Reportar como inadecuado



 Vol 17: WDR36 variants in East Indian primary open-angle glaucoma patients.


Vol 17: WDR36 variants in East Indian primary open-angle glaucoma patients. - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Descargar gratis o leer online en formato PDF el libro: Vol 17: WDR36 variants in East Indian primary open-angle glaucoma patients.
This article is from Molecular Vision, volume 17.AbstractPurpose: Glaucoma is a heterogeneous group of optic neuropathies with a complex genetic basis. To date, only the following four genes have been identified: viz. myocilin MYOC, optineurin OPTN, WD repeat domain 36 WDR36, and neurotrophin 4 NTF4. However, there are conflicting reports regarding the involvement of WDR36 in the pathogenesis of primary open-angle glaucoma POAG. In the Asian population, mutations in WDR36 appear to play a minor role in POAG pathogenesis but polymorphic variants have been found to be associated with POAG, especially in patients with high tension glaucoma HTG. The purpose of this study is to determine the role of WDR36 in East Indian POAG patients. To date, no other studies have yet examined this role. Methods: Ten single nucleotide polymorphisms SNPs; rs1971050, rs1993465, rs13153937, rs10038177, rs11241095, rs10043631, rs10038058, rs10491424, rs17553936, and rs13186912 spanning almost the entire WDR36 gene were selected and their association with eastern Indian POAG patients was evaluated. Our study pool consisted of 323 POAG patients. Of these 116 were patients who had HTG with intraocular perssure IOP 21mmHg and 207 were found to be non-HTG patients presenting IOPT was found to be strongly associated with the HTG cases OR=2.186; 95% CI=1.458–3.277; p=1.4×10−4. To increase the significance of the study, the SNP was genotyped in an additional 184 of the participants in the control group and it was observed that the SNP retained the association OR=1.216; 95% CI=1.064–2.306; p=0.002. However, no haplotype was found to have any sustainable association with POAG. Based on the LD pattern and location of rs10038177, exon 5 of WDR36 was sequenced but no suspected disease-causing variant was detected. Conclusions: Our study suggests a possible association between WDR36 SNP in a cohort of eastern Indian POAG patients who also have high intraocular pressure IOP. This study needs to be further validated in a larger patient cohort.



Autor: Mookherjee, Suddhasil; Chakraborty, Subhadip; Vishal, Mansi; Banerjee, Deblina; Sen, Abhijit; Ray, Kunal

Fuente: https://archive.org/







Documentos relacionados