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Genomic profile of diabetic retinopathy in a north indian cohort

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Abstract

Background

Diabetic Retinopathy (DR) is one of the major microvascular complications of diabetes. Being a complex disease, it is important to delineate the genetic and environmental factors that influence the susceptibility to DR in a population. Therefore, the present study was designed to investigate the role of genetic and lifestyle risk factors associated with DR susceptibility in a North-Indian population.

Methods

A total of 848 subjects were enrolled, comprising of DR cases (n = 414) and healthy controls (n = 434). The Sequenom MassARRAY technology was used to perform target genome analysis of 111 SNPs across 57 candidate genes and 14 intergenic region SNPs that are involved in the metabolic pathways associated with type 2 diabetes (T2D) and DR. Allele, genotype and haplotype frequencies were determined and compared among cases and controls. Logistic regression models were used to determine genotype-phenotype and phenotype-phenotype correlations.

Results

The strongest association was observed with TCF7L2 rs12255372 T allele [p < 0.0001; odds ratio (OR) = 1.81 (1.44–2.27)] and rs11196205 C allele [p < 0.0008; OR = 1.62 (1.32–1.99)]. Genotype-phenotype and phenotype-phenotype correlations were found in the present study.

Conclusion

Our study provides strong evidence of association between the TCF7L2 variants and DR susceptibility.

Key points

  1. 1.

    Association of TCF7L2 rs12255372 and rs11196205 with Diabetic Retinopathy (DR).

  2. 2.

    Association of lifestyle risk factors with DR.

  3. 3.

    Genotype-Phenotype interactions among DR cases.

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Data Availability

Online:

All relevant aggregated data are within the manuscript and its Supporting Information files. The individual level data are available upon request from the corresponding author (Email: ruhisikka@gmail.com) for researchers who meet the criteria for access to confidential data.

Change history

  • 25 October 2023

    The publication year of the 53rd reference is corrected from 2020 to 2021. The correct reference is “Raina P, Sikka R, Gupta H, Matharoo K, Bali SK, Singh V, Bhanwer AJS (2021) Association of eNOS and MCP-1 genetic variants with diabetic nephropathy in type 2 diabetes. Biochem Genet 59:966–996”

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Acknowledgements

We are thankful to all the participants who donated their blood samples for the present study. We are grateful towards Dr. Sohan Singh Eye hospital and Dr. Om Prakash Eye Hospital in Amritsar, Punjab (India) for providing us the blood samples and clinical information of patients. We are also thankful to Dr. Subhabrata Chakrabarti, Associate Director (Research) at LVPEI, Hyderabad (India) and Dr. Jay Chhablani at University of Pittsburgh for their valuable comments and suggestions during the study. The financial assistance to AJSB by CSIR through grant (27(0304)/14/EMR-II Dated: 21st November 2014) is acknowledged. The financial assistance under the scheme of “Centre with Potential for Excellence in Particular Area” through grant number F.8 − 2/2008(NS/PE) (UGC, India); and “University with Potential for Excellence” through grant number F.14 − 2/2008(NS/PE) (UGC, India) to AJSB at Guru Nanak Dev University, Amritsar is humbly acknowledged.

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Authors and Affiliations

  1. Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India

    Ruhi Sikka, Priyanka Raina & A. J. S. Bhanwer

  2. Department of Biotechnology, Institute of Applied Sciences & Humanities, GLA University, Mathura, UP, India

    Ruhi Sikka & Himanshu Gupta

  3. Mosaic Therapeutics, Wellcome Genome Campus, Cambridge, UK

    Priyanka Raina

  4. Soni Eye Care Centre, Doraha, Punjab, India

    Rhibhu Soni

  5. Department of Genetics, Guru Ram Das University of Health Sciences, Amritsar, Punjab, India

    A. J. S. Bhanwer

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  1. Ruhi Sikka
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Contributions

AJSB and Ruhi Sikka (RS1) designed the study. RS1 and Rhibhu Soni (RS2) collected the samples and clinical information. RS1 and PR performed the experiments. AJSB provided the reagents, material, and analysis tools. RS1, PR, and HG analyzed the data. RS1, HG and AJSB wrote the paper.

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Correspondence to Ruhi Sikka.

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Sikka, R., Raina, P., Soni, R. et al. Genomic profile of diabetic retinopathy in a north indian cohort. Mol Biol Rep 50, 9769–9778 (2023). https://doi.org/10.1007/s11033-023-08772-z

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