Related Experiment Video
Updated: Feb 28, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Sequence variant at 4q25 near PITX2 associates with appendicitis
Ragnar P Kristjansson1, Stefania Benonisdottir2, Asmundur Oddsson2
1deCODE genetics/Amgen, Inc, Reykjavik, 101, Iceland. ragnarpk@decode.is.
Abstract:
Appendicitis is one of the most common conditions requiring acute surgery and can pose a threat to the lives of affected individuals. We performed a genome-wide association study of appendicitis in 7,276 Icelandic and 1,139 Dutch cases and large groups of controls. In a combined analysis of the Icelandic and Dutch data, we detected a single signal represented by an intergenic variant rs2129979 [G] close to the gene PITX2 associating with increased risk of appendicitis (OR = 1.15, P = 1.8 × 10-11). We only observe the association in patients diagnosed in adulthood. The marker is close to, but distinct from, a set of markers reported to associate with atrial fibrillation, which have been linked to PITX2. PITX2 has been implicated in determination of right-left symmetry during development. Anomalies in organ arrangement have been linked to increased prevalence of gastrointestinal and intra-abdominal complications, which may explain the effect of rs2129979 on appendicitis risk.
More Related Videos
Related Concept Videos
Appendicitis-I: Introduction
Etiology: Appendicitis can arise from various causes, primarily rooted in the obstruction of the appendix lumen. Factors contributing to this obstruction include fecal accumulation, lymphoid hyperplasia and, in...
Pleiotropy
Abdominal Regions and Quadrants
The simpler quadrants approach, which is more commonly used in medicine, subdivides the cavity with one horizontal and one vertical line that intersects at the patient's umbilicus (navel). The four...
Appendicitis-II: Diagnostic Studies and Management
Diagnosing Appendicitis
It requires a multifaceted approach, starting with a detailed physical examination to pinpoint the location and nature of the pain and identify any associated symptoms. Laboratory tests play a crucial role. A complete Blood Count (CBC) typically reveals leukocytosis (an increased number of...
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
RNA Splicing

