Publication

A Weighted Genetic Risk Score Predicts Surgical Recurrence Independent of High-Risk Clinical Features in Dupuytren's Disease

Riesmeijer, S. A., Manley, O. W. G., Ng, M., Nolte, I. M., Broekstra, D. C., Werker, P. M. N. & Furniss, D., Feb-2019, In : Plastic and Reconstructive Surgery. 143, 2, p. 512-518 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

BACKGROUND: Dupuytren's disease is a very common, highly heritable palmar fibromatosis. In a recent genome-wide association study, 26 single-nucleotide polymorphisms were found to be associated with development of Dupuytren's disease. The authors generated a weighted genetic risk score based on the genotype at these single-nucleotide polymorphisms. In two independent cohorts, they tested the association among high weighted genetic risk score, clinical features that predict a high risk of recurrence, and recurrence after surgery.

METHODS: Clinical data were obtained from patient questionnaires and clinical records, with missing data accounted for by imputation. Genotyping was performed as part of the recent genome-wide association study. Logistic regression was performed to study the association among weighted genetic risk score, high-risk clinical features, and recurrence, with a weighted genetic risk score analyzed as a continuous variable, and also grouped into four categories.

RESULTS: Using univariable logistic regression, a high weighted genetic risk score was associated with the presence of all high-risk clinical features: early age of onset, bilateral disease, ectopic disease, and a positive family history (p ≤ 0.004). After multivariable logistic regression accounting for these factors, an increased weighted genetic risk score was still associated with the need for repeated Dupuytren's disease surgery (p = 0.004).

CONCLUSIONS: The authors' results suggest that a weighted genetic risk score is useful in predicting the risk of disease recurrence, and may be used by surgeons to personalize prognostication. In the future, a weighted genetic risk score may be useful for determining the most appropriate initial surgical procedure in patients with Dupuytren's disease.

CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, III.

Original languageEnglish
Pages (from-to)512-518
Number of pages7
JournalPlastic and Reconstructive Surgery
Volume143
Issue number2
Publication statusPublished - Feb-2019

View graph of relations

Download statistics

No data available

ID: 75296075