Abstract

SummaryBackgroundDiabetic foot ulcers (DFUs) are a devastating complication of diabetes.ObjectivesTo identify genetic contributors to the development of DFUs in the presence of peripheral neuropathy in a Scottish cohort with diabetes using a genome‐wide association study.MethodsA genome‐wide association approach was applied. A case was defined as a person with diabetes (type 1 or type 2) who had ever had a foot ulcer (current or previous) in at least one foot, as well as a positive monofilament test result (i.e. evidence of peripheral neuropathy) recorded in their longitudinal e‐health records. A control was defined as an individual with diabetes (type 1 or type 2) who has never been recorded as having a foot ulcer in either foot but who had a positive monofilament test result recorded in either foot in their longitudinal e‐health records.ResultsThere were 699 DFU cases and 2695 controls in the Genetics of Diabetes Audit and Research in Tayside Scotland (GoDARTS) dataset. The single‐nucleotide polymorphism rs80028505 (Chr6p21·31) in MAPK14 reached genome‐wide significance with a lowest P‐value of 2·45 × 10−8. The narrow‐sense heritability of this phenotype is 0·06.ConclusionsWe suggest that MAPK14 is associated with DFUs.

Highlights

  • Diabetic foot ulcers (DFUs) are a devastating complication of diabetes

  • We suggest that MAPK14 is associated with DFUs

  • After removing related individuals (n = 543) and population outliers (n = 1), we were left with a cleaned study population of 699 DFU cases (463 men, 236 women; 662 with type 2 diabetes (T2D) and 37 with type 1 diabetes (T1D)) and 2695 diabetic control individuals (1453 men, 1242 women; 2584 with T2D and 111 with T1D)

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Summary

Objectives

To identify genetic contributors to the development of DFUs in the presence of peripheral neuropathy in a Scottish cohort with diabetes using a genome-wide association study. A case was defined as a person with diabetes (type 1 or type 2) who had ever had a foot ulcer (current or previous) in at least one foot, as well as a positive monofilament test result (i.e. evidence of peripheral neuropathy) recorded in their longitudinal e-health records. A control was defined as an individual with diabetes (type 1 or type 2) who has never been recorded as having a foot ulcer in either foot but who had a positive monofilament test result recorded in either foot in their longitudinal ehealth records. Results There were 699 DFU cases and 2695 controls in the Genetics of Diabetes Audit and Research in Tayside Scotland (GoDARTS) dataset.

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