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Updated: Mar 15, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The angiotensin-converting enzyme gene insertion-deletion polymorphism in a white British patient cohort with
Roman Müllenbach1, Natasha Tetlow2, Amanda Bennett3
1Klinik für Innere Medizin II, Universitätsklinikum des Saarlandes , Gebäude 41 Kirrberger Str, 66421 Homburg , Germany.
Abstract:
The DD genotype of the angiotensin-converting enzyme (ACE) gene is over-represented in Finnish patients with obstetric cholestasis (OC). The purpose of this study was to establish whether this genotype is associated with cholestasis in UK cases. In a retrospective case-control study, we determined the ACE insertion/deletion frequencies in 166 British cases and 100 control women by polymerase chain reaction analysis. No significant difference in allele frequencies was found between these groups, but allele frequencies differed significantly between Finnish and UK OC cases (P = 0.0005). The prevalence of the DD genotype is lower in UK cases than in controls (χ(2) [1 d.f.] = 4.32, P = 0.05) and the odds ratio for OC associated with the DD genotypeis 0.54, 95% confidence interval 0.30-0.97. In contrast to Finnish OC cases, the DD genotype of the ACE is not increased in UK cases.
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