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.

Scientific Reports
|June 10, 2017
PubMed
Summary

A genome-wide study identified a genetic variant near the PITX2 gene associated with an increased risk of appendicitis, particularly in adults. This finding may relate to developmental processes affecting organ symmetry.

Related Concept Videos

Appendicitis-I: Introduction01:22

Appendicitis-I: Introduction

The appendix, a small, narrow, blind tube extending from the inferior part of the cecum, is widely regarded as a vestigial organ, having lost much of its original function through evolution. Despite its diminished role, the appendix can become inflamed, a condition known as appendicitis.
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...
2.9K
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.6K
Abdominal Regions and Quadrants01:19

Abdominal Regions and Quadrants

To promote clear communication, for instance, about the location of a patient's abdominal pain or a suspicious mass, anatomists and clinicians typically use imaginary lines to categorize the abdominopelvic cavity into either four quadrants or nine regions to identify organs in the cavity.
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...
18.7K
Appendicitis-II: Diagnostic Studies and Management01:29

Appendicitis-II: Diagnostic Studies and Management

Diagnosing and managing appendicitis requires a structured and comprehensive approach that spans from initial assessment to postoperative care. Here is an overview of the process:
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...
669
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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...
25.4K
RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
61.0K