Líffræðifélag Íslands - biologia.is
Líffræðiráðstefnan 2017

Erindi/veggspjald / Talk/poster E81

GWAS reveals common variants influencing risk of appendicitis and other inflammatory conditions

Höfundar / Authors: Ragnar P Kristjánsson (1), Stefania Benonisdottir (1), Asmundur Oddsson (1), Gudmar Thorleifsson (1), Olafur B Davidsson (1), Stefan Jonsson (1), Gudny A Arnadottir (1), Brynjar O Jensson (1), Ingileif Jonsdottir (1,2), Unnur Thorsteinsdottir (1,2), Daniel F Gudbjartsson (1,3), Thorunn Rafnar (1), Patrick Sulem (1), Kari Stefansson (1,2)

Starfsvettvangur / Affiliations: 1. deCODE genetics/Amgen Inc., 2. Faculty of Medicine, University of Iceland, 3. School of Engineering and Natural Sciences, University of Iceland

Kynnir / Presenter: Ragnar Pétur Kristjánsson

Although genome-wide association studies have in recent times revealed a large number of associations between human sequence variation and phenotypic diversity, novel findings may yet be made by studying previously unexplored phenotypes. Furthermore, the use of independent replication cohorts may help to both identify novel associations, as well as reduce the risk of false-positives.
Appendicitis is one of the most common conditions requiring acute surgery and can pose a threat to the lives of affected individuals. In a combined analysis of 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 = 1.8x10-11). 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.
We also present evidence for the role of genetics in inflammatory conditions of the upper respiratory tract, including nasal polyps, a condition for which heredity is largely uncharacterized.