Journal article
Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland
S Radian, Y Diekmann, P Gabrovska, B Holland, L Bradley, H Wallace, K Stals, AM Bussell, K McGurren, M Cuesta, AW Ryan, M Herincs, LC Hernández-Ramírez, A Holland, J Samuels, ED Aflorei, S Barry, J Dénes, I Pernicova, CE Stiles Show all
Human Mutation | Published : 2017
DOI: 10.1002/humu.23121
Open access
Abstract
The aryl hydrocarbon receptor interacting protein (AIP) founder mutation R304* (or p.R304*; NM_003977.3:c.910C>T, p.Arg304Ter) identified in Northern Ireland (NI) predisposes to acromegaly/gigantism; its population health impact remains unexplored. We measured R304* carrier frequency in 936 Mid Ulster, 1,000 Greater Belfast (both in NI) and 2,094 Republic of Ireland (ROI) volunteers and in 116 NI or ROI acromegaly/gigantism patients. Carrier frequencies were 0.0064 in Mid Ulster (95%CI = 0.0027–0.013; P = 0.0005 vs. ROI), 0.001 in Greater Belfast (0.00011–0.0047) and zero in ROI (0–0.0014). R304* prevalence was elevated in acromegaly/gigantism patients in NI (11/87, 12.6%, P < 0.05), but not..
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Awarded by Consejo Nacional de Ciencia y Tecnología
Funding Acknowledgements
Contract grant sponsor: Wellcome Trust; grant numbers: 097970/Z/11/Z, 100719/Z/12/Z, and 098395/Z/12/A; contract grant sponsor: European Commission Research Executive Agency; grant numbers: 303006/2011; contract grant sponsor: Barts and the London Charity; contract grant sponsor: Pfizer UK; grant number: WS 733753; contract grant sponsor: Science Foundation Ireland; grant number: 09/IN.1/B2640; contract grant sponsor: Consejo Nacional de Ciencia y Tecnologia; contract grant sponsor: FIPA Patients Charity; contract grant sponsor: Belfast City Hospital Charitable fund.