Dataset Information

Enrichment of Patients With Ehlers Danlos Syndrome in Idiopathic Gastroparesis-A Gene Set Enrichment Analysis.

ABSTRACT:

Introduction

Ehlers Danlos syndrome (EDS) is a heritable disorder of the connective tissue usually inherited as an autosomal dominant trait. We observe an enrichment of EDS cases in a gastroparesis clinical study.

Methods

We explored the frequency of EDS cases in 2 consecutive gastroparesis clinical studies. To explore the genetic surrogates of EDS, we have performed whole-genome sequencing analysis and we focused the analyses on the frequencies of consequential variants in core EDS genes.

Results

We report a significant enrichment of EDS cases in a set of patients with gastroparesis (14/686 vs 1/5,000 OR 104 (confidence interval 13.7-793.3) P value <0.0001). We report a significant enrichment of variants in EDS genes in patients with idiopathic gastroparesis.

Discussion

The enrichment may be suggestive of converging pathways at the heart of etiology or predisposing patients to EDS with gastroparesis.

SUBMITTER: Smieszek SP

PROVIDER: S-EPMC10043590 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature

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Publications

Enrichment of Patients With Ehlers Danlos Syndrome in Idiopathic Gastroparesis-A Gene Set Enrichment Analysis.

Smieszek Sandra P SP Carlin Jesse L JL Fisher Michaela A MA Madonick Darby S DS Kupersmith Caleigh Q CQ Moszczynski Paula D PD Xiao Changfu C Polymeropoulos Christos M CM Birznieks Gunther G Polymeropoulos Mihael H MH

Clinical and translational gastroenterology 20230301 3

<h4>Introduction</h4>Ehlers Danlos syndrome (EDS) is a heritable disorder of the connective tissue usually inherited as an autosomal dominant trait. We observe an enrichment of EDS cases in a gastroparesis clinical study.<h4>Methods</h4>We explored the frequency of EDS cases in 2 consecutive gastroparesis clinical studies. To explore the genetic surrogates of EDS, we have performed whole-genome sequencing analysis and we focused the analyses on the frequencies of consequential variants in core E ...[more]

PMID: 36000988

Similar Datasets

Project description:Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae) are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. Invasive imaging techniques are contraindicated. Conservative approach is usually recommended when caring for a vascular complication in a patient suffering from EDS type IV. Surgery may, however, be required urgently to treat potentially fatal complications.

Dataset Information

Enrichment of Patients With Ehlers Danlos Syndrome in Idiopathic Gastroparesis-A Gene Set Enrichment Analysis.

Introduction

Methods

Results

Discussion

Publications

Enrichment of Patients With Ehlers Danlos Syndrome in Idiopathic Gastroparesis-A Gene Set Enrichment Analysis.

Similar Datasets

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