A genome-wide association study implicates that the TTC39C gene is associated with diabetic maculopathy with decreased visual acuity

Weihua Meng (Lead / Corresponding author), Brian Chan, Chinenyenwa Ezeonwumelu, Harry Hebert, Amy Campbell, Vincent Soler, Colin Palmer

Research output: Contribution to journalArticle

Abstract

Background: Diabetic maculopathy is a form of diabetic retinopathy. The visual acuity of one third of patients with diabetic maculopathy will be affected. The purpose of this study was to identify genetic contributors of diabetic maculopathy with decreased visual acuity based on a genome-wide association approach using a well-defined Scottish diabetic cohort.

Methods: We used linked e-health records of diabetic patients to define our cases and controls. The cases in this study were defined as type 2 diabetic patients who had ever been recorded in the linked e-health records as having maculopathy (observable or referable) in at least one eye and whose visual acuity of the eye was recorded to have decreased between the first and the last visual acuity record of that eye in the longitudinal e-health records. The first and the last visual acuity record of that eye in the longitudinal e-health records. The controls were defined as a type 2 diabetic individual who had never been diagnosed with maculopathy or retinopathy in the linked e-health records. Anyone who had laser photocoagulation treatment was also excluded from the controls. A standard genome-wide association approach was applied.

Results: Overall, we identified 469 cases and 1,374 controls within the Genetics of Diabetes Audit and Research in Tayside Scotland (GoDARTS) dataset. We found that the P value of rs9966620 in the TTC39C gene was 4.13x10-8, which reached genome-wide significance.

Conclusions: We suggest that the TTC39C gene is associated with diabetic maculopathy with decreased visual acuity. This needs to be confirmed by further replication studies and functional studies.
Original languageEnglish
Pages (from-to)252-258
Number of pages7
JournalOphthalmic Genetics
Volume40
Issue number3
Early online date2 Jul 2019
DOIs
Publication statusPublished - 2 Jul 2019

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Genome-Wide Association Study
Visual Acuity
Health
Genes
Genome
Light Coagulation
Scotland
Diabetic Retinopathy
Lasers
Research

Keywords

  • Diabetic maculopathy
  • TTC39C
  • genetics
  • genome-wide association study
  • visual acuity

Cite this

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title = "A genome-wide association study implicates that the TTC39C gene is associated with diabetic maculopathy with decreased visual acuity",
abstract = "Background: Diabetic maculopathy is a form of diabetic retinopathy. The visual acuity of one third of patients with diabetic maculopathy will be affected. The purpose of this study was to identify genetic contributors of diabetic maculopathy with decreased visual acuity based on a genome-wide association approach using a well-defined Scottish diabetic cohort. Methods: We used linked e-health records of diabetic patients to define our cases and controls. The cases in this study were defined as type 2 diabetic patients who had ever been recorded in the linked e-health records as having maculopathy (observable or referable) in at least one eye and whose visual acuity of the eye was recorded to have decreased between the first and the last visual acuity record of that eye in the longitudinal e-health records. The first and the last visual acuity record of that eye in the longitudinal e-health records. The controls were defined as a type 2 diabetic individual who had never been diagnosed with maculopathy or retinopathy in the linked e-health records. Anyone who had laser photocoagulation treatment was also excluded from the controls. A standard genome-wide association approach was applied. Results: Overall, we identified 469 cases and 1,374 controls within the Genetics of Diabetes Audit and Research in Tayside Scotland (GoDARTS) dataset. We found that the P value of rs9966620 in the TTC39C gene was 4.13x10-8, which reached genome-wide significance. Conclusions: We suggest that the TTC39C gene is associated with diabetic maculopathy with decreased visual acuity. This needs to be confirmed by further replication studies and functional studies.",
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author = "Weihua Meng and Brian Chan and Chinenyenwa Ezeonwumelu and Harry Hebert and Amy Campbell and Vincent Soler and Colin Palmer",
note = "This study was supported by the Tenovus Scotland under Grant 2015-T15/40. The Affymetrix SNP6.0 chips were funded by the ‘Wellcome Trust Case Control Consortium 2’ (WTCCC2) project The Illumina OmniExpress chips were funded by the ‘Surrogate markers for Micro- and Macro-vascular hard endpoints for Innovative diabetes Tools’ (SUMMIT) project. The GoDARTS project is jointly funded by DIABETES UK and The Wellcome Trust.",
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A genome-wide association study implicates that the TTC39C gene is associated with diabetic maculopathy with decreased visual acuity. / Meng, Weihua (Lead / Corresponding author); Chan, Brian ; Ezeonwumelu, Chinenyenwa; Hebert, Harry; Campbell, Amy; Soler, Vincent; Palmer, Colin.

In: Ophthalmic Genetics, Vol. 40, No. 3, 02.07.2019, p. 252-258.

Research output: Contribution to journalArticle

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T1 - A genome-wide association study implicates that the TTC39C gene is associated with diabetic maculopathy with decreased visual acuity

AU - Meng, Weihua

AU - Chan, Brian

AU - Ezeonwumelu, Chinenyenwa

AU - Hebert, Harry

AU - Campbell, Amy

AU - Soler, Vincent

AU - Palmer, Colin

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N2 - Background: Diabetic maculopathy is a form of diabetic retinopathy. The visual acuity of one third of patients with diabetic maculopathy will be affected. The purpose of this study was to identify genetic contributors of diabetic maculopathy with decreased visual acuity based on a genome-wide association approach using a well-defined Scottish diabetic cohort. Methods: We used linked e-health records of diabetic patients to define our cases and controls. The cases in this study were defined as type 2 diabetic patients who had ever been recorded in the linked e-health records as having maculopathy (observable or referable) in at least one eye and whose visual acuity of the eye was recorded to have decreased between the first and the last visual acuity record of that eye in the longitudinal e-health records. The first and the last visual acuity record of that eye in the longitudinal e-health records. The controls were defined as a type 2 diabetic individual who had never been diagnosed with maculopathy or retinopathy in the linked e-health records. Anyone who had laser photocoagulation treatment was also excluded from the controls. A standard genome-wide association approach was applied. Results: Overall, we identified 469 cases and 1,374 controls within the Genetics of Diabetes Audit and Research in Tayside Scotland (GoDARTS) dataset. We found that the P value of rs9966620 in the TTC39C gene was 4.13x10-8, which reached genome-wide significance. Conclusions: We suggest that the TTC39C gene is associated with diabetic maculopathy with decreased visual acuity. This needs to be confirmed by further replication studies and functional studies.

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