Sequence variant at 4q25 near PITX2 associates with appendicitis.
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Authors
Kristjansson, Ragnar PBenonisdottir, Stefania
Oddsson, Asmundur
Galesloot, Tessel E
Thorleifsson, Gudmar
Aben, Katja K
Davidsson, Olafur B
Jonsson, Stefan
Arnadottir, Gudny A
Jensson, Brynjar O
Walters, G Bragi
Sigurdsson, Jon K
Sigurdsson, Snaevar
Holm, Hilma
Arnar, David O
Thorgeirsson, Gudmundur
Alexiusdottir, Kristin
Jonsdottir, Ingileif
Thorsteinsdottir, Unnur
Kiemeney, Lambertus A
Jonsson, Thorvaldur
Gudbjartsson, Daniel F
Rafnar, Thorunn
Sulem, Patrick
Stefansson, Kari
Issue Date
2017-06-08
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Sequence variant at 4q25 near PITX2 associates with appendicitis. 2017, 7 (1):3119 Sci RepAbstract
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.Description
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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465083/pdf/41598_2017_Article_3353.pdfRights
Archived with thanks to Scientific reportsae974a485f413a2113503eed53cd6c53
10.1038/s41598-017-03353-0
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