rs11706588 - CHCHD6

Magnitude 4.5 · 1 study on file

Reported associations

• A genome-wide association study implicates that the gene is associated with diabetic maculopathy with decreased visual acuity. - Ophthalmic genetics (2020) · Meng W, Chan BW, Ezeonwumelu C, Hébert HL, Campbell A, Soler V, Palmer CN · PubMed 31264924

  : 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. : 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.

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