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4 results on '"Unterlaender M"'

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

Author

Radian, S, Diekmann, Y, Gabrovska, P, Holland, B, Bradley, L, Wallace, H, Stals, K, Bussell, A-M, McGurren, K, Cuesta, M, Ryan, AW, Herincs, M, Hernandez-Ramirez, LC, Holland, A, Samuels, J, Aflorei, ED, Barry, S, Denes, J, Pernicova, I, Stiles, CE, Trivellin, G, McCloskey, R, Ajzensztejn, M, Abid, N, Akker, SA, Mercado, M, Cohen, M, Thakker, RV, Baldeweg, S, Barkan, A, Musat, M, Levy, M, Orme, SM, Unterlaender, M, Burger, J, Kumar, AV, Ellard, S, McPartlin, J, McManus, R, Linden, GJ, Atkinson, B, Balding, DJ, Agha, A, Thompson, CJ, Hunter, SJ, Thomas, MG, Morrison, PJ, Korbonits, M, Radian, S, Diekmann, Y, Gabrovska, P, Holland, B, Bradley, L, Wallace, H, Stals, K, Bussell, A-M, McGurren, K, Cuesta, M, Ryan, AW, Herincs, M, Hernandez-Ramirez, LC, Holland, A, Samuels, J, Aflorei, ED, Barry, S, Denes, J, Pernicova, I, Stiles, CE, Trivellin, G, McCloskey, R, Ajzensztejn, M, Abid, N, Akker, SA, Mercado, M, Cohen, M, Thakker, RV, Baldeweg, S, Barkan, A, Musat, M, Levy, M, Orme, SM, Unterlaender, M, Burger, J, Kumar, AV, Ellard, S, McPartlin, J, McManus, R, Linden, GJ, Atkinson, B, Balding, DJ, Agha, A, Thompson, CJ, Hunter, SJ, Thomas, MG, Morrison, PJ, and Korbonits, M

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%). Haploblock conservation supported a common ancestor for all the 18 identified Irish pedigrees (81 carriers, 30 affected). Time to most recent common ancestor (tMRCA) was 2550 (1,275-5,000) years. tMRCA-based simulations predicted 432 (90-5,175) current carriers, including 86 affected (18-1,035) for 20% penetrance. In conclusion, R304* is frequent in Mid Ulster, resulting in numerous acromegaly/gigantism cases. tMRCA is consistent with historical/folklore accounts of Irish giants. Forward simulations predict many undetected carriers; geographically targeted population screening improves asymptomatic carrier identification, complementing clinical testing of patients/relatives. We generated disease awareness locally, necessary for early diagnosis and improved outcomes of AIP-related disease.

Published
2017

4. Genetic discontinuity between local hunter-gatherers and Europes first farmers

Author

Bramanti, B., Thomas, M.G., Haak, W., Unterlaender, M., Jores, P., Tambets, K., Antanaitis-Jacobs, I., Haidle, M.N., Jankauskas, R., Kind, C.J., Lueth, F., Terberger, T., Hiller, J., Matsumura, S., Forster, P., and Burger, J.

Abstract

Following the domestication of animals and crops in the Near East some 11,000 years ago, farming reached much of Central Europe by 7,500 before present. The extent to which these early European farmers ere immigrants, or descendants of resident hunter-gatherers who had learnt farming, has been widely debated. We compare new mitochondrial DNA (mtDNA) sequences from late European hunter-gatherer skeletons with those from early farmers, and from modern Europeans. We find large genetic differences betwee all three groups that cannot be explained by population continuity alone. Most (82 %) of the ancient hunter-gatherers share mtDNA types that are relatively rare in Central Europeans today. Together, thse analyses provide persuasive evidence that the first farmers were not the descendants of local hunergatherers but immigrated into Central Europe at the onset of the Neolithic.

Published
2009

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