Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.

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 in ROI (2/29, 6.8%) versus non-Irish patients (0-2.41%

SUBMITTER: Radian S 

PROVIDER: S-EPMC5215436 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature