Article
Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.
Human mutation - 1 Jan 2017
Radian Serban, Diekmann Yoan, Gabrovska Plamena, Holland Brendan, Bradley Lisa, Wallace Helen, Stals Karen, Bussell Anna-Marie, McGurren Karen, Cuesta Martin, Ryan Anthony W, Herincs Maria, Hernández-Ramírez Laura C, Holland Aidan, Samuels Jade, Aflorei Elena Daniela, Barry Sayka, Dénes Judit, Pernicova Ida, Stiles Craig E, Trivellin Giampaolo, McCloskey Ronan, Ajzensztejn Michal, Abid Noina, Akker Scott A, Mercado Moises, Cohen Mark, Thakker Rajesh V, Baldeweg Stephanie, Barkan Ariel, Musat Madalina, Levy Miles, Orme Stephen M, Unterländer Martina, Burger Joachim, Kumar Ajith V, Ellard Sian, McPartlin Joseph, McManus Ross, Linden Gerard J, Atkinson Brew, Balding David J, Agha Amar, Thompson Chris J, Hunter Steven J, Thomas Mark G, Morrison Patrick J, Korbonits Márta
Abstract excerpt
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...
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