Division of Population Health Sciences, Ninewells Hospital and School of Medicine, University of Dundee, Dundee, DD2 4BF, U.K.
Institute of Genetics and Molecular Medicine, Western General Hospital, Crewe Road, University of Edinburgh, Edinburgh, U.K.
Br J Dermatol. 2017 Dec;177(6):1664-1670. doi: 10.1111/bjd.15787. Epub 2017 Nov 27.
Diabetic foot ulcers (DFUs) are a devastating complication of diabetes.
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 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.
There 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 . The narrow-sense heritability of this phenotype is 0·06.
We suggest that MAPK14 is associated with DFUs.
糖尿病足溃疡（DFUs）是糖尿病的一种严重并发症。
在苏格兰的一个具有糖尿病的队列中，通过全基因组关联研究，确定外周神经病变患者发生 DFU 的遗传因素。
采用全基因组关联方法。病例定义为患有糖尿病（1 型或 2 型）的人，其至少一只脚曾有过溃疡（现患或既往），并且在其纵向电子健康记录中记录有正单丝试验结果（即存在周围神经病变的证据）。对照定义为患有糖尿病（1 型或 2 型）的个体，其双脚均未记录有溃疡，但在其双脚的纵向电子健康记录中记录有正单丝试验结果。
在苏格兰泰赛德遗传学糖尿病审计和研究（GoDARTS）数据集内，有 699 例 DFU 病例和 2695 例对照。在 MAPK14 上的单核苷酸多态性 rs80028505（Chr6p21·31）达到了全基因组显著水平，最低 P 值为 2.45×10 。该表型的狭义遗传率为 0.06。
我们提示 MAPK14 与 DFUs 相关。
