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Journal of Genetics

, Volume 95, Issue 2, pp 459–461 | Cite as

TBK1 duplication is found in normal tension and not in high tension glaucoma patients of Indian origin

  • LALIT KAURANI
  • MANSI VISHAL
  • JHARNA RAY
  • ABHIJIT SEN
  • KUNAL RAYEmail author
  • ARIJIT MUKHOPADHYAYEmail author
RESEARCH NOTE

Introduction

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...

Keywords

TBK1 gene copy number variation primary open angle glaucoma normal tension glaucoma. 

Notes

Acknowledgements

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.

Supplementary material

12041_2016_637_MOESM1_ESM.pdf (541 kb)
(PDF 541 KB)

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Copyright information

© Indian Academy of Sciences 2016

Authors and Affiliations

  1. 1.Genomics and Molecular MedicineCSIR-Institute of Genomics and Integrative BiologyNew DelhiIndia
  2. 2.Molecular and Human Genetics DivisionCSIR-Indian Institute of Chemical BiologyKolkataIndia
  3. 3.Sachindra Nath Pradhan Centre for NeurosciencesUniversity of CalcuttaKolkataIndia
  4. 4.Dristi PradipKolkataIndia
  5. 5.Academy of Scientific and Innovative Research (AcSIR)New DelhiIndia

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