TBK1 duplication is found in normal tension and not in high tension glaucoma patients of Indian origin
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Duplication in TANK-binding kinase 1 (TBK1) gene has been shown to be associated with normal tension glaucoma (NTG), a subtype of the neurodegenerative disease glaucoma, which is the largest cause of irreversible blindness. A specific Taqman assay was used in exploring the genetic contribution of the duplication in TBK1 on 158 NTG and 161 high tension glaucoma (HTG) patients as well as in 197 controls from West Bengal, eastern part of India. We identified two patients in NTG subgroup harbouring the duplication (1.26%). Both the patients harboured one extra copy for the genomic segment analysed. No copy number change was observed in the HTG subgroup or in the controls. This is the first report showing presence of duplication in TBK1 in Indian primary open angle glaucoma (POAG) cohort, especially for the NTG subtype. Our finding correlates with the previous findings where duplication in TBK1 is shown to be associated with NTG in various populations.
Glaucoma is a...
KeywordsTBK1 gene copy number variation primary open angle glaucoma normal tension glaucoma.
We acknowledge Dr John Fingert for providing us the DNA sample to be used as positive control to standardize the assay for the duplication. Funding from the Council of Scientific and Industrial Research (CSIR) supported the work (grant numbers BSC-0123 and MLP-0016). LK and MV acknowledge CSIR and Indian Council of Medical Research (ICMR) for their senior research fellowships.