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7. Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability (Nature Communications, (2021), 12, 1, (24), 10.1038/s41467-020-19366-9)

Author

Lagou, V. (Vasiliki), Mägi, R. (Reedik), Hottenga, J.J. (Jouke Jan), Grallert, H. (Harald), Perry, J.R.B. (John R. B.), Bouatia-Naji, N. (Nabila), Marullo, L. (Letizia), Rybin, D. (Denis), Jansen, R. (Rick), Min, J.L. (Josine L.), Dimas, A.S. (Antigone), Ulrich, A. (Anna), Zudina, L. (Liudmila), Gådin, J.R. (Jesper R.), Jiang, L. (Longda), Faggian, A. (Alessia), Bonnefond, A. (Amélie), Fadista, J. (João), Stathopoulou, M.G. (Maria G), Isaacs, A.J. (Aaron), Willems, S.M. (Sara), Navarro, P. (Pau), Tanaka, T. (Toshiko), Jackson, A.U. (Anne U.), Montasser, M.E. (May E.), O’Connell, J.R. (Jeff R.), Bielak, L.F. (Lawrence F.), Webster, R.J. (Rebecca J.), Meitinger, T. (Thomas), Stafford, M., Pourcain, B.S. (Beate St), Timpson, N.J. (Nicholas J.), Salo, P. (Perttu), Shin, S.-Y., Amin, N. (Najaf), Smith, A.V. (Albert), Li, G. (Guo), Verweij, N. (Niek), Goel, A. (Anuj), Ford, I. (Ian), Johnson, P.C.D. (Paul C. D.), Johnson, T. (Toby), Kapur, K. (Karen), Thorleifsson, G. (Gudmar), Strawbridge, R.J. (Rona), Rasmussen-Torvik, L.J. (Laura), Esko, T. (Tõnu), Mihailov, E. (Evelin), Fall, T. (Tove), Fraser, R.M. (Ross), Mahajan, A. (Anubha), Kanoni, S. (Stavroula), Giedraitis, V. (Vilmantas), Kleber, M.E. (Marcus E.), Silbernagel, G. (Günther), Meyer, J. (Julia), Müller-Nurasyid, M. (Martina), Ganna, A. (Andrea), Sarin, A.-P., Yengo, L. (Loic), Shungin, D. (Dmitry), Luan, J. (Jian’an), Horikoshi, M. (Momoko), An, P. (Ping), Sanna, S. (Serena), Boettcher, Y. (Yvonne), Rayner, N.W. (Nigel William), Nolte, I.M. (Ilja), Zemunik, T. (Tatijana), Iperen, E. (Erik van), Kovacs, P. (Peter), Hastie, N. (Nick), Wild, S.H. (Sarah), McLachlan, S. (Stela), Campbell, S. (Susan), Polasek, O. (Ozren), Carlson, O.D. (Olga), Egan, J. (Josephine), Kieß, W. (Wieland), Willemsen, G. (Gonneke), Kuusisto, J. (Johanna), Laakso, M. (Markku), Dimitriou, M. (Maria), Hicks, A.A. (Andrew A.), Rauramaa, R. (Rainer), Bandinelli, S. (Stefania), Thorand, B. (Barbara), Liu, Y. (Yongmei), Miljkovic, I. (Iva), Kao, W.H.L. (Wen), Doney, A.S.F. (Alex), Perola, M. (Markus), Hingorani, A. (Aroon), Kivimaki, M. (Mika), Kumari, M. (Meena), Bennett, A.J. (Amanda J.), Groves, C.J. (Christopher J.), Herder, C. (Christian), Koistinen, H.A. (Heikki A.), Kinnunen, L. (Leena), Faire, U.D. (Ulf), Bakker, S.J.L. (Stephan), Uusitupa, M. (Matti), Palmer, C.N.A. (Colin N. A.), Jukema, J.W. (Jan Wouter), Sattar, N. (Naveed), Pouta, A. (Anneli), Snieder, H. (Harold), Boerwinkle, E.A. (Eric), Palmer, C.N.A. (Colin), Magnusson, P.K. (Patrik), Krus, U. (Ulrika), Scapoli, C. (Chiara), Geus, E.J.C. (Eco) de, Blüher, M. (Matthias), Wolffenbuttel, B.H.R. (Bruce), Province, M.A. (Michael A.), Abecasis, G.R. (Goncalo R.), Meigs, J.B. (James B.), Hovingh, G.K. (G. Kees), Lindström, J. (Jaana), Wilson, J.F. (James F.), Wright, A.F. (Alan F.), Dedoussis, G.V. (George), Bornstein, S.R. (Stefan), Schwarz, P.E.H. (Peter), Tönjes, A. (Anke), Winkelmann, B., Boehm, B.O. (Bernhard), März, W. (Winfried), Metspalu, A. (Andres), Price, J.F. (Jackie F.), Deloukas, P. (Panos), Körner, A. (Antje), Lakka, T.A. (Timo), Keinanen-Kiukaanniemi, S. (Sirkka), Saaristo, T. (Timo), Bergman, R.N. (Richard N.), Tuomilehto, J. (Jaakko), Wareham, N.J. (Nick), Langenberg, C. (Claudia), Männistö, S. (Satu), Franks, P.W. (Paul W.), Hayward, C. (Caroline), Vitart, V. (Veronique), Kaprio, J. (Jaakko), Visvikis-Siest, S. (Sophie), Balkau, B. (Beverley), Altshuler, D. (David), Rudan, I. (Igor), Stumvoll, M. (Michael), Campbell, H. (Harry), Duijn, C.M. (Cornelia) van, Gieger, C. (Christian), Illig, T. (Thomas), Ferrucci, L. (Luigi), Pedersen, N.L. (Nancy), Pramstaller, P.P. (Peter Paul), Boehnke, M. (Michael), Frayling, T.M. (Timothy M.), Shuldiner, A.R. (Alan R.), Peyser, P.A. (Patricia A.), Kardia, S.L.R. (Sharon L. R.), Palmer, L.J. (Lyle J.), Penninx, B.W.J.H. (Brenda), Meneton, P. (Pierre), Harris, T.B. (Tamara), Matullo, G., Harst, P. (Pim van der), Smith, G.D. (George Davey), Forouhi, N.G. (Nita), Loos, R.J.F. (Ruth J. F.), Salomaa, V. (Veikko), Soranzo, N. (Nicole), Boomsma, D.I. (Dorret I.), Groop, L. (Leif), Tuomi, T. (Tiinamaija), Hofman, A. (Albert), Munroe, P. (Patricia), Gudnason, V. (Vilmundur), Siscovick, D.S. (David), Watkins, H. (Hugh), Lecoeur, C. (Cécile), Vollenweider, P. (Peter), Franco-Cereceda, A. (Anders), Eriksson, P. (Per), Jarvelin, M.-R. (Marjo-Riitta), Zwart, J-A. (John-Anker), Hamsten, A. (Anders), Nicholson, G. (George), Karpe, F. (Fredrik), Frants, R.R. (Rune), Lindgren, C.M. (Cecilia M.), McCarthy, M.I. (Mark I.), Froguel, P. (Philippe), Kaakinen, M.A. (Marika A.), Lyssenko, V. (Valeriya), Watanabe, R.M. (Richard), Ingelsson, E. (Erik), Sijbrands, E.J.G. (Eric), Barroso, I.E. (Inês), Morris, A.P. (Andrew), Prokopenko, I. (Inga), Lagou, V. (Vasiliki), Mägi, R. (Reedik), Hottenga, J.J. (Jouke Jan), Grallert, H. (Harald), Perry, J.R.B. (John R. B.), Bouatia-Naji, N. (Nabila), Marullo, L. (Letizia), Rybin, D. (Denis), Jansen, R. (Rick), Min, J.L. (Josine L.), Dimas, A.S. (Antigone), Ulrich, A. (Anna), Zudina, L. (Liudmila), Gådin, J.R. (Jesper R.), Jiang, L. (Longda), Faggian, A. (Alessia), Bonnefond, A. (Amélie), Fadista, J. (João), Stathopoulou, M.G. (Maria G), Isaacs, A.J. (Aaron), Willems, S.M. (Sara), Navarro, P. (Pau), Tanaka, T. (Toshiko), Jackson, A.U. (Anne U.), Montasser, M.E. (May E.), O’Connell, J.R. (Jeff R.), Bielak, L.F. (Lawrence F.), Webster, R.J. (Rebecca J.), Meitinger, T. (Thomas), Stafford, M., Pourcain, B.S. (Beate St), Timpson, N.J. (Nicholas J.), Salo, P. (Perttu), Shin, S.-Y., Amin, N. (Najaf), Smith, A.V. (Albert), Li, G. (Guo), Verweij, N. (Niek), Goel, A. (Anuj), Ford, I. (Ian), Johnson, P.C.D. (Paul C. D.), Johnson, T. (Toby), Kapur, K. (Karen), Thorleifsson, G. (Gudmar), Strawbridge, R.J. (Rona), Rasmussen-Torvik, L.J. (Laura), Esko, T. (Tõnu), Mihailov, E. (Evelin), Fall, T. (Tove), Fraser, R.M. (Ross), Mahajan, A. (Anubha), Kanoni, S. (Stavroula), Giedraitis, V. (Vilmantas), Kleber, M.E. (Marcus E.), Silbernagel, G. (Günther), Meyer, J. (Julia), Müller-Nurasyid, M. (Martina), Ganna, A. (Andrea), Sarin, A.-P., Yengo, L. (Loic), Shungin, D. (Dmitry), Luan, J. (Jian’an), Horikoshi, M. (Momoko), An, P. (Ping), Sanna, S. (Serena), Boettcher, Y. (Yvonne), Rayner, N.W. (Nigel William), Nolte, I.M. (Ilja), Zemunik, T. (Tatijana), Iperen, E. (Erik van), Kovacs, P. (Peter), Hastie, N. (Nick), Wild, S.H. (Sarah), McLachlan, S. (Stela), Campbell, S. (Susan), Polasek, O. (Ozren), Carlson, O.D. (Olga), Egan, J. (Josephine), Kieß, W. (Wieland), Willemsen, G. (Gonneke), Kuusisto, J. (Johanna), Laakso, M. (Markku), Dimitriou, M. (Maria), Hicks, A.A. (Andrew A.), Rauramaa, R. (Rainer), Bandinelli, S. (Stefania), Thorand, B. (Barbara), Liu, Y. (Yongmei), Miljkovic, I. (Iva), Kao, W.H.L. (Wen), Doney, A.S.F. (Alex), Perola, M. (Markus), Hingorani, A. (Aroon), Kivimaki, M. (Mika), Kumari, M. (Meena), Bennett, A.J. (Amanda J.), Groves, C.J. (Christopher J.), Herder, C. (Christian), Koistinen, H.A. (Heikki A.), Kinnunen, L. (Leena), Faire, U.D. (Ulf), Bakker, S.J.L. (Stephan), Uusitupa, M. (Matti), Palmer, C.N.A. (Colin N. A.), Jukema, J.W. (Jan Wouter), Sattar, N. (Naveed), Pouta, A. (Anneli), Snieder, H. (Harold), Boerwinkle, E.A. (Eric), Palmer, C.N.A. (Colin), Magnusson, P.K. (Patrik), Krus, U. (Ulrika), Scapoli, C. (Chiara), Geus, E.J.C. (Eco) de, Blüher, M. (Matthias), Wolffenbuttel, B.H.R. (Bruce), Province, M.A. (Michael A.), Abecasis, G.R. (Goncalo R.), Meigs, J.B. (James B.), Hovingh, G.K. (G. Kees), Lindström, J. (Jaana), Wilson, J.F. (James F.), Wright, A.F. (Alan F.), Dedoussis, G.V. (George), Bornstein, S.R. (Stefan), Schwarz, P.E.H. (Peter), Tönjes, A. (Anke), Winkelmann, B., Boehm, B.O. (Bernhard), März, W. (Winfried), Metspalu, A. (Andres), Price, J.F. (Jackie F.), Deloukas, P. (Panos), Körner, A. (Antje), Lakka, T.A. (Timo), Keinanen-Kiukaanniemi, S. (Sirkka), Saaristo, T. (Timo), Bergman, R.N. (Richard N.), Tuomilehto, J. (Jaakko), Wareham, N.J. (Nick), Langenberg, C. (Claudia), Männistö, S. (Satu), Franks, P.W. (Paul W.), Hayward, C. (Caroline), Vitart, V. (Veronique), Kaprio, J. (Jaakko), Visvikis-Siest, S. (Sophie), Balkau, B. (Beverley), Altshuler, D. (David), Rudan, I. (Igor), Stumvoll, M. (Michael), Campbell, H. (Harry), Duijn, C.M. (Cornelia) van, Gieger, C. (Christian), Illig, T. (Thomas), Ferrucci, L. (Luigi), Pedersen, N.L. (Nancy), Pramstaller, P.P. (Peter Paul), Boehnke, M. (Michael), Frayling, T.M. (Timothy M.), Shuldiner, A.R. (Alan R.), Peyser, P.A. (Patricia A.), Kardia, S.L.R. (Sharon L. R.), Palmer, L.J. (Lyle J.), Penninx, B.W.J.H. (Brenda), Meneton, P. (Pierre), Harris, T.B. (Tamara), Matullo, G., Harst, P. (Pim van der), Smith, G.D. (George Davey), Forouhi, N.G. (Nita), Loos, R.J.F. (Ruth J. F.), Salomaa, V. (Veikko), Soranzo, N. (Nicole), Boomsma, D.I. (Dorret I.), Groop, L. (Leif), Tuomi, T. (Tiinamaija), Hofman, A. (Albert), Munroe, P. (Patricia), Gudnason, V. (Vilmundur), Siscovick, D.S. (David), Watkins, H. (Hugh), Lecoeur, C. (Cécile), Vollenweider, P. (Peter), Franco-Cereceda, A. (Anders), Eriksson, P. (Per), Jarvelin, M.-R. (Marjo-Riitta), Zwart, J-A. (John-Anker), Hamsten, A. (Anders), Nicholson, G. (George), Karpe, F. (Fredrik), Frants, R.R. (Rune), Lindgren, C.M. (Cecilia M.), McCarthy, M.I. (Mark I.), Froguel, P. (Philippe), Kaakinen, M.A. (Marika A.), Lyssenko, V. (Valeriya), Watanabe, R.M. (Richard), Ingelsson, E. (Erik), Sijbrands, E.J.G. (Eric), Barroso, I.E. (Inês), Morris, A.P. (Andrew), and Prokopenko, I. (Inga)

Abstract

The original version of this Article contained an error in Fig. 2, in which panels a and b were inadvertently swapped. This has now been corrected in the PDF and HTML versions of the Article.

Published
2021
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8. Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

Author

Lagou, V. (Vasiliki), Mägi, R. (Reedik), Hottenga, J.J. (Jouke Jan), Grallert, H. (Harald), Perry, J.R.B. (John R. B.), Bouatia-Naji, N. (Nabila), Marullo, L. (Letizia), Rybin, D. (Denis), Jansen, R. (Rick), Min, J. (Josine), Dimas, A.S. (Antigone), Ulrich, A. (Anna), Zudina, L. (Liudmila), Gådin, J.R. (Jesper R.), Jiang, L. (Longda), Faggian, A. (Alessia), Bonnefond, A. (Amélie), Fadista, J. (João), Stathopoulou, M.G. (Maria G), Isaacs, A. (Aaron), Willems, S.M. (Sara), Navarro, P. (Pau), Tanaka, T. (Toshiko), Jackson, A.U. (Anne U.), Montasser, M.E. (May E.), O’Connell, J.R. (Jeff R.), Bielak, L.F. (Lawrence F.), Webster, R.J. (Rebecca J.), Meitinger, T. (Thomas), Stafford, M., Pourcain, B.S. (Beate St), Timpson, N.J. (Nicholas J.), Salo, P. (Perttu), Shin, S.-Y., Amin, N. (Najaf), Smith, A.V. (Albert), Li, G. (Guo), Verweij, N. (Niek), Goel, A. (Anuj), Ford, I. (Ian), Johnson, P.C.D. (Paul C. D.), Johnson, T. (Toby), Kapur, K. (Karen), Thorleifsson, G. (Gudmar), Strawbridge, R.J. (Rona), Rasmussen-Torvik, L.J. (Laura), Esko, T. (Tõnu), Mihailov, E. (Evelin), Fall, T. (Tove), Fraser, R.M. (Ross), Mahajan, A. (Anubha), Kanoni, S. (Stavroula), Giedraitis, V. (Vilmantas), Kleber, M.E. (Marcus E.), Silbernagel, G. (Günther), Meyer, J. (Julia), Müller-Nurasyid, M. (Martina), Ganna, A. (Andrea), Sarin, A.-P., Yengo, L. (Loic), Shungin, D. (Dmitry), Luan, J. (Jian’an), Horikoshi, M. (Momoko), An, P. (Ping), Sanna, S. (Serena), Boettcher, Y. (Yvonne), Rayner, N.W. (Nigel William), Nolte, I.M. (Ilja), Zemunik, T. (Tatijana), Iperen, E. (Erik van), Kovacs, P. (Peter), Hastie, N. (Nick), Wild, S.H. (Sarah H.), McLachlan, S. (Stela), Campbell, S. (Susan), Polasek, O. (Ozren), Carlson, O.D. (Olga), Egan, J. (Josephine), Kieß, W. (Wieland), Willemsen, G. (Gonneke), Kuusisto, J. (Johanna), Laakso, M. (Markku), Dimitriou, M. (Maria), Hicks, A.A. (Andrew A.), Rauramaa, R. (Rainer), Bandinelli, S. (Stefania), Thorand, B. (Barbara), Liu, Y. (Yongmei), Miljkovic, I. (Iva), Kao, W.H.L. (Wen), Doney, A.S.F. (Alex), Perola, M. (Markus), Hingorani, A. (Aroon), Kivimaki, M. (Mika), Kumari, M. (Meena), Bennett, A.J. (Amanda J.), Groves, C.J. (Christopher J.), Herder, C. (Christian), Koistinen, H.A. (Heikki A.), Kinnunen, L. (Leena), Faire, U.D. (Ulf), Bakker, S.J.L. (Stephan), Uusitupa, M. (Matti), Palmer, C.N.A. (Colin N. A.), Jukema, J.W. (Jan Wouter), Sattar, N. (Naveed), Pouta, A. (Anneli), Snieder, H. (Harold), Boerwinkle, E.A. (Eric), Palmer, C.N.A. (Colin), Magnusson, P.K. (Patrik), Krus, U. (Ulrika), Scapoli, C. (Chiara), de Geus, E.J.C.N. (Eco J. C. N.), Blüher, M. (Matthias), Wolffenbuttel, B.H.R. (Bruce), Province, M.A. (Michael A.), Abecasis, G.R. (Goncalo R.), Meigs, J.B. (James B.), Hovingh, G.K. (G. Kees), Lindström, J. (Jaana), Wilson, J.F. (James F.), Wright, A.F. (Alan F.), Dedoussis, G.V. (George), Bornstein, S.R. (Stefan), Schwarz, P.E.H. (Peter), Tönjes, A. (Anke), Winkelmann, B., Boehm, B.O. (Bernhard O.), März, W. (Winfried), Metspalu, A. (Andres), Price, J.F. (Jackie F.), Deloukas, P. (Panos), Körner, A. (Antje), Lakka, T.A. (Timo), Keinanen-Kiukaanniemi, S. (Sirkka), Saaristo, T. (Timo), Bergman, R.N. (Richard N.), Tuomilehto, J. (Jaakko), Wareham, N.J. (Nick), Langenberg, C. (Claudia), Männistö, S. (Satu), Franks, P.W. (Paul W.), Hayward, C. (Caroline), Vitart, V. (Veronique), Kaprio, J. (Jaakko), Visvikis-Siest, S. (Sophie), Balkau, B. (Beverley), Altshuler, D. (David), Rudan, I. (Igor), Stumvoll, M. (Michael), Campbell, H. (Harry), van Duijn, C.M. (Cornelia M.), Gieger, C. (Christian), Illig, T. (Thomas), Ferrucci, L. (Luigi), Pedersen, N.L. (Nancy L.), Pramstaller, P.P. (Peter Paul), Boehnke, M. (Michael), Frayling, T.M. (Timothy M.), Shuldiner, A.R. (Alan R.), Peyser, P.A. (Patricia A.), Kardia, S.L.R. (Sharon L. R.), Palmer, L.J. (Lyle J.), Penninx, B.W.J.H. (Brenda), Meneton, P. (Pierre), Harris, T.B. (Tamara), Navis, G. (Gerjan), Harst, P. (Pim van der), Smith, G.D. (George Davey), Forouhi, N.G. (Nita), Loos, R.J.F. (Ruth), Salomaa, V. (Veikko), Soranzo, N. (Nicole), Boomsma, D.I. (Dorret I.), Groop, L. (Leif), Tuomi, T. (Tiinamaija), Hofman, A. (Albert), Munroe, P.B. (Patricia B.), Gudnason, V. (Vilmundur), Siscovick, D.S. (David), Watkins, H. (Hugh), Lecoeur, C. (Cécile), Vollenweider, P. (Peter), Franco-Cereceda, A. (Anders), Eriksson, P. (Per), Jarvelin, M.-R. (Marjo-Riitta), Zwart, J-A. (John-Anker), Hamsten, A. (Anders), Nicholson, G. (George), Karpe, F. (Fredrik), Frants, R.R. (Rune), Lindgren, C.M. (Cecilia M.), McCarthy, M.I. (Mark I.), Froguel, P. (Philippe), Kaakinen, M.A. (Marika A.), Lyssenko, V. (Valeriya), Watanabe, R.M. (Richard), Ingelsson, E. (Erik), Sijbrands, E.J.G. (Eric), Dupuis, J. (Josée), Barroso, I.E. (Inês), Morris, A.P. (Andrew P.), Prokopenko, I. (Inga), Lagou, V. (Vasiliki), Mägi, R. (Reedik), Hottenga, J.J. (Jouke Jan), Grallert, H. (Harald), Perry, J.R.B. (John R. B.), Bouatia-Naji, N. (Nabila), Marullo, L. (Letizia), Rybin, D. (Denis), Jansen, R. (Rick), Min, J. (Josine), Dimas, A.S. (Antigone), Ulrich, A. (Anna), Zudina, L. (Liudmila), Gådin, J.R. (Jesper R.), Jiang, L. (Longda), Faggian, A. (Alessia), Bonnefond, A. (Amélie), Fadista, J. (João), Stathopoulou, M.G. (Maria G), Isaacs, A. (Aaron), Willems, S.M. (Sara), Navarro, P. (Pau), Tanaka, T. (Toshiko), Jackson, A.U. (Anne U.), Montasser, M.E. (May E.), O’Connell, J.R. (Jeff R.), Bielak, L.F. (Lawrence F.), Webster, R.J. (Rebecca J.), Meitinger, T. (Thomas), Stafford, M., Pourcain, B.S. (Beate St), Timpson, N.J. (Nicholas J.), Salo, P. (Perttu), Shin, S.-Y., Amin, N. (Najaf), Smith, A.V. (Albert), Li, G. (Guo), Verweij, N. (Niek), Goel, A. (Anuj), Ford, I. (Ian), Johnson, P.C.D. (Paul C. D.), Johnson, T. (Toby), Kapur, K. (Karen), Thorleifsson, G. (Gudmar), Strawbridge, R.J. (Rona), Rasmussen-Torvik, L.J. (Laura), Esko, T. (Tõnu), Mihailov, E. (Evelin), Fall, T. (Tove), Fraser, R.M. (Ross), Mahajan, A. (Anubha), Kanoni, S. (Stavroula), Giedraitis, V. (Vilmantas), Kleber, M.E. (Marcus E.), Silbernagel, G. (Günther), Meyer, J. (Julia), Müller-Nurasyid, M. (Martina), Ganna, A. (Andrea), Sarin, A.-P., Yengo, L. (Loic), Shungin, D. (Dmitry), Luan, J. (Jian’an), Horikoshi, M. (Momoko), An, P. (Ping), Sanna, S. (Serena), Boettcher, Y. (Yvonne), Rayner, N.W. (Nigel William), Nolte, I.M. (Ilja), Zemunik, T. (Tatijana), Iperen, E. (Erik van), Kovacs, P. (Peter), Hastie, N. (Nick), Wild, S.H. (Sarah H.), McLachlan, S. (Stela), Campbell, S. (Susan), Polasek, O. (Ozren), Carlson, O.D. (Olga), Egan, J. (Josephine), Kieß, W. (Wieland), Willemsen, G. (Gonneke), Kuusisto, J. (Johanna), Laakso, M. (Markku), Dimitriou, M. (Maria), Hicks, A.A. (Andrew A.), Rauramaa, R. (Rainer), Bandinelli, S. (Stefania), Thorand, B. (Barbara), Liu, Y. (Yongmei), Miljkovic, I. (Iva), Kao, W.H.L. (Wen), Doney, A.S.F. (Alex), Perola, M. (Markus), Hingorani, A. (Aroon), Kivimaki, M. (Mika), Kumari, M. (Meena), Bennett, A.J. (Amanda J.), Groves, C.J. (Christopher J.), Herder, C. (Christian), Koistinen, H.A. (Heikki A.), Kinnunen, L. (Leena), Faire, U.D. (Ulf), Bakker, S.J.L. (Stephan), Uusitupa, M. (Matti), Palmer, C.N.A. (Colin N. A.), Jukema, J.W. (Jan Wouter), Sattar, N. (Naveed), Pouta, A. (Anneli), Snieder, H. (Harold), Boerwinkle, E.A. (Eric), Palmer, C.N.A. (Colin), Magnusson, P.K. (Patrik), Krus, U. (Ulrika), Scapoli, C. (Chiara), de Geus, E.J.C.N. (Eco J. C. N.), Blüher, M. (Matthias), Wolffenbuttel, B.H.R. (Bruce), Province, M.A. (Michael A.), Abecasis, G.R. (Goncalo R.), Meigs, J.B. (James B.), Hovingh, G.K. (G. Kees), Lindström, J. (Jaana), Wilson, J.F. (James F.), Wright, A.F. (Alan F.), Dedoussis, G.V. (George), Bornstein, S.R. (Stefan), Schwarz, P.E.H. (Peter), Tönjes, A. (Anke), Winkelmann, B., Boehm, B.O. (Bernhard O.), März, W. (Winfried), Metspalu, A. (Andres), Price, J.F. (Jackie F.), Deloukas, P. (Panos), Körner, A. (Antje), Lakka, T.A. (Timo), Keinanen-Kiukaanniemi, S. (Sirkka), Saaristo, T. (Timo), Bergman, R.N. (Richard N.), Tuomilehto, J. (Jaakko), Wareham, N.J. (Nick), Langenberg, C. (Claudia), Männistö, S. (Satu), Franks, P.W. (Paul W.), Hayward, C. (Caroline), Vitart, V. (Veronique), Kaprio, J. (Jaakko), Visvikis-Siest, S. (Sophie), Balkau, B. (Beverley), Altshuler, D. (David), Rudan, I. (Igor), Stumvoll, M. (Michael), Campbell, H. (Harry), van Duijn, C.M. (Cornelia M.), Gieger, C. (Christian), Illig, T. (Thomas), Ferrucci, L. (Luigi), Pedersen, N.L. (Nancy L.), Pramstaller, P.P. (Peter Paul), Boehnke, M. (Michael), Frayling, T.M. (Timothy M.), Shuldiner, A.R. (Alan R.), Peyser, P.A. (Patricia A.), Kardia, S.L.R. (Sharon L. R.), Palmer, L.J. (Lyle J.), Penninx, B.W.J.H. (Brenda), Meneton, P. (Pierre), Harris, T.B. (Tamara), Navis, G. (Gerjan), Harst, P. (Pim van der), Smith, G.D. (George Davey), Forouhi, N.G. (Nita), Loos, R.J.F. (Ruth), Salomaa, V. (Veikko), Soranzo, N. (Nicole), Boomsma, D.I. (Dorret I.), Groop, L. (Leif), Tuomi, T. (Tiinamaija), Hofman, A. (Albert), Munroe, P.B. (Patricia B.), Gudnason, V. (Vilmundur), Siscovick, D.S. (David), Watkins, H. (Hugh), Lecoeur, C. (Cécile), Vollenweider, P. (Peter), Franco-Cereceda, A. (Anders), Eriksson, P. (Per), Jarvelin, M.-R. (Marjo-Riitta), Zwart, J-A. (John-Anker), Hamsten, A. (Anders), Nicholson, G. (George), Karpe, F. (Fredrik), Frants, R.R. (Rune), Lindgren, C.M. (Cecilia M.), McCarthy, M.I. (Mark I.), Froguel, P. (Philippe), Kaakinen, M.A. (Marika A.), Lyssenko, V. (Valeriya), Watanabe, R.M. (Richard), Ingelsson, E. (Erik), Sijbrands, E.J.G. (Eric), Dupuis, J. (Josée), Barroso, I.E. (Inês), Morris, A.P. (Andrew P.), and Prokopenko, I. (Inga)

Abstract

Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in women, however, the genetic component underlying this phenomenon is not established. We assess sex-dimorphic (73,089/50,404 women and 67,506/47,806 men) and sex-combined (151,188/105,056 individuals) fasting glucose/fasting insulin genetic effects via genome-wide association study meta-analyses in individuals of European descent without diabetes. Here we report sex dimorphism in allelic effects on fasting insulin at IRS1 and ZNF12 loci, the latter showing higher RNA expression in whole blood in women compared to men. We also observe sex-homogeneous effects on fasting glucose at seven novel loci. Fasting insulin in women shows stronger genetic correlations than in men with waist-to-hip ratio and anorexia nervosa. Furthermore, waist-to-hip ratio is causally related to insulin resistance in women, but not in men. These results position dissection of metabolic and glycemic health sex dimorphism as a steppingstone for understanding differences in genetic effects between women and men in related phenotypes.

Published
2021
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9. Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

Author

Lagou, V, Mägi, R, Hottenga, JJ, Grallert, H, Perry, JR, Bouatia-Naji, N, Marullo, L, Rybin, D, Jansen, R, Min, JL, Dimas, AS, Ulrich, A, Zudina, L, Gådin, JR, Jiang, L, Faggian, A, Bonnefond, A, Fadista, J, Stathopoulou, MG, Isaacs, Aaron, Willems, SM, Navarro, P, Tanaka, T, Jackson, AU, Montasser, ME, O’Connell, JR, Bielak, LF, Webster, RJ, Saxena, R, Stafford, JM, Pourcain, BS, Timpson, NJ, Salo, P, Shin, SY, Amin, Najaf, Smith, AV, Li, G, Verweij, N, Goel, A, Ford, I, Johnson, PCD, Johnson, T, Kapur, K, Thorleifsson, G, Strawbridge, RJ, Rasmussen-Torvik, LJ, Esko, T, Mihailov, E, Fall, T, Fraser, RM, Mahajan, A, Kanoni, S, Giedraitis, V, Kleber, ME, Silbernagel, G, Meyer, J, Müller-Nurasyid, M, Ganna, A, Sarin, AP, Yengo, L, Shungin, D, Luan, J, Horikoshi, M, An, P, Sanna, S, Boettcher, Y, Rayner, NW, Nolte, IM, Zemunik, T, van Iperen, E, Kovacs, P, Hastie, ND, Wild, SH, McLachlan, S, Campbell, S, Polasek, O, Carlson, O, Egan, J, Kiess, W, Willemsen, G, Kuusisto, J, Laakso, M, Dimitriou, M, Hicks, AA, Rauramaa, R, Bandinelli, S, Thorand, B, Liu, Y, Miljkovic, I, Lind, L, Doney, A, Perola, M, Hingorani, A, Kivimaki, M, Kumari, M, Bennett, AJ, Groves, CJ, Herder, C, Koistinen, HA, Kinnunen, L, de Faire, U, Bakker, SJ, Uusitupa, M, Palmer, CN, Jukema, JW, Sattar, N, Pouta, A, Snieder, H, Boerwinkle, E, Pankow, JS, Magnusson, PKE, Krus, U, Scapoli, C, de Geus, EJCN, Blüher, M, Wolffenbuttel, BH, Province, MA, Abecasis, GR, Meigs, JB, Hovingh, GK, Lindström, J, Wilson, JF, Wright, AF, Dedoussis, GVZ, Bornstein, SR, Schwarz, PEH, Tönjes, A, Winkelmann, BR, Boehm, BO, März, W, Metspalu, A, Price, JF, Deloukas, P, Körner, A, Lakka, TA, Keinanen-Kiukaanniemi, SM, Saaristo, TE, Bergman, RN, Tuomilehto, J, Wareham, NJ, Langenberg, C, Männistö, S, Franks, PW, Hayward, C, Vitart, V, Kaprio, J, Visvikis-Siest, S, Balkau, B, Altshuler, D, Rudan, I, Stumvoll, M, Campbell, H, Duijn, Cornelia, Gieger, C, Illig, T, Ferrucci, L, Pedersen, NL, Pramstaller, PP, Boehnke, M, Frayling, TM, Shuldiner, AR, Peyser, PA, Kardia, SL, Palmer, LJ, Penninx, BWJH, Meneton, P, Harris, TB, Navis, G, van der Harst, P, Smith, GD, Forouhi, NG, Loos, RJ, Salomaa, V, Soranzo, N, Boomsma, DI, Groop, L, Tuomi, T, Hofman, Bert, Munroe, PB, Gudnason, V, Siscovick, DS, Watkins, H, Lecoeur, C, Vollenweider, P, Franco-Cereceda, A, Eriksson, P, Jarvelin, M R R, Stefansson, K, Hamsten, A, Nicholson, G, Karpe, F, Dermitzakis, ET, Lindgren, CM, McCarthy, MI, Froguel, P, Kaakinen, MA, Lyssenko, V, Watanabe, RM, Ingelsson, E, Florez, JC, Dupuis, J, Barroso, I, Morris, AP, Prokopenko, I, Lagou, V, Mägi, R, Hottenga, JJ, Grallert, H, Perry, JR, Bouatia-Naji, N, Marullo, L, Rybin, D, Jansen, R, Min, JL, Dimas, AS, Ulrich, A, Zudina, L, Gådin, JR, Jiang, L, Faggian, A, Bonnefond, A, Fadista, J, Stathopoulou, MG, Isaacs, Aaron, Willems, SM, Navarro, P, Tanaka, T, Jackson, AU, Montasser, ME, O’Connell, JR, Bielak, LF, Webster, RJ, Saxena, R, Stafford, JM, Pourcain, BS, Timpson, NJ, Salo, P, Shin, SY, Amin, Najaf, Smith, AV, Li, G, Verweij, N, Goel, A, Ford, I, Johnson, PCD, Johnson, T, Kapur, K, Thorleifsson, G, Strawbridge, RJ, Rasmussen-Torvik, LJ, Esko, T, Mihailov, E, Fall, T, Fraser, RM, Mahajan, A, Kanoni, S, Giedraitis, V, Kleber, ME, Silbernagel, G, Meyer, J, Müller-Nurasyid, M, Ganna, A, Sarin, AP, Yengo, L, Shungin, D, Luan, J, Horikoshi, M, An, P, Sanna, S, Boettcher, Y, Rayner, NW, Nolte, IM, Zemunik, T, van Iperen, E, Kovacs, P, Hastie, ND, Wild, SH, McLachlan, S, Campbell, S, Polasek, O, Carlson, O, Egan, J, Kiess, W, Willemsen, G, Kuusisto, J, Laakso, M, Dimitriou, M, Hicks, AA, Rauramaa, R, Bandinelli, S, Thorand, B, Liu, Y, Miljkovic, I, Lind, L, Doney, A, Perola, M, Hingorani, A, Kivimaki, M, Kumari, M, Bennett, AJ, Groves, CJ, Herder, C, Koistinen, HA, Kinnunen, L, de Faire, U, Bakker, SJ, Uusitupa, M, Palmer, CN, Jukema, JW, Sattar, N, Pouta, A, Snieder, H, Boerwinkle, E, Pankow, JS, Magnusson, PKE, Krus, U, Scapoli, C, de Geus, EJCN, Blüher, M, Wolffenbuttel, BH, Province, MA, Abecasis, GR, Meigs, JB, Hovingh, GK, Lindström, J, Wilson, JF, Wright, AF, Dedoussis, GVZ, Bornstein, SR, Schwarz, PEH, Tönjes, A, Winkelmann, BR, Boehm, BO, März, W, Metspalu, A, Price, JF, Deloukas, P, Körner, A, Lakka, TA, Keinanen-Kiukaanniemi, SM, Saaristo, TE, Bergman, RN, Tuomilehto, J, Wareham, NJ, Langenberg, C, Männistö, S, Franks, PW, Hayward, C, Vitart, V, Kaprio, J, Visvikis-Siest, S, Balkau, B, Altshuler, D, Rudan, I, Stumvoll, M, Campbell, H, Duijn, Cornelia, Gieger, C, Illig, T, Ferrucci, L, Pedersen, NL, Pramstaller, PP, Boehnke, M, Frayling, TM, Shuldiner, AR, Peyser, PA, Kardia, SL, Palmer, LJ, Penninx, BWJH, Meneton, P, Harris, TB, Navis, G, van der Harst, P, Smith, GD, Forouhi, NG, Loos, RJ, Salomaa, V, Soranzo, N, Boomsma, DI, Groop, L, Tuomi, T, Hofman, Bert, Munroe, PB, Gudnason, V, Siscovick, DS, Watkins, H, Lecoeur, C, Vollenweider, P, Franco-Cereceda, A, Eriksson, P, Jarvelin, M R R, Stefansson, K, Hamsten, A, Nicholson, G, Karpe, F, Dermitzakis, ET, Lindgren, CM, McCarthy, MI, Froguel, P, Kaakinen, MA, Lyssenko, V, Watanabe, RM, Ingelsson, E, Florez, JC, Dupuis, J, Barroso, I, Morris, AP, and Prokopenko, I

Abstract

Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in women, however, the genetic component underlying this phenomenon is not established. We assess sex-dimorphic (73,089/50,404 women and 67,506/47,806 men) and sex-combined (151,188/105,056 individuals) fasting glucose/fasting insulin genetic effects via genome-wide association study meta-analyses in individuals of European descent without diabetes. Here we report sex dimorphism in allelic effects on fasting insulin at IRS1 and ZNF12 loci, the latter showing higher RNA expression in whole blood in women compared to men. We also observe sex-homogeneous effects on fasting glucose at seven novel loci. Fasting insulin in women shows stronger genetic correlations than in men with waist-to-hip ratio and anorexia nervosa. Furthermore, waist-to-hip ratio is causally related to insulin resistance in women, but not in men. These results position dissection of metabolic and glycemic health sex dimorphism as a steppingstone for understanding differences in genetic effects between women and men in related phenotypes.

Published
2021

11. Surnames in Siberia: a study of the population of Yakutia through isonymy

Author

Tarskaia, L., El'chinova, G.I., Scapoli, C., Mamolini, E., Carrieri, A., Rodriguez-Larralde, A., and Barrai, I.

Subjects
Siberia -- Social aspects, Siberia -- Demographic aspects, Names, Personal -- Usage, Names, Personal -- Statistics, Names, Personal -- Demographic aspects, Anthropology/archeology/folklore
Abstract

We studied the isonymic structure of the Republic of Sakha (Yakutia), in the Russian Federation, using the surname distributions of 491,259 citizens above 18 years registered as residents in 2002. These were distributed in 35 districts and 497 towns and settlements of the Republic. The number of different surnames was 44,625. Matrices of isonymic distances between the 35 districts were tested for correlation with the geographic distance between the population centers of gravity of the districts. We found that, for the whole of Yakutia, Nei's distance was correlated with geographic distance (r = 0.693 [+ or -] 0.027). A dendrogram of the 35 districts was built from the distance matrix, using the UPGMA method. The clusters identified by the dendrogram correlate with the geographic position of the districts. The correlation of random inbreeding calculated from isonymy, [F.sub.ST], with latitude was positive and highly significant but weak (r = 0.23). So, inbreeding was highest in the Arctic districts, and lowest in the South. Average [alpha] for 497 towns was 107, for 35 districts it was 311, and for the Republic 433. The value of [alpha] was higher for Russian than for the local languages. The geographical distribution of [alpha], high in the Center and South-East and lower in the North-West, is compatible with the settlement of groups of migrants moving from the South-East toward the center and the North of Yakutia. It is proposed that low-density demic diffusion of human populations results in high inbreeding and may have been a general phenomenon in the early phases of human radiations. KEY WORDS Eastern Siberia; surnames distribution; isonymy inbreeding levels; isolation by distance; human low-density diffusion

Published
2009

12. Tumor necrosis factor receptor SF10A (TNFRSF10A) SNPs correlate with corticosteroid response in Duchenne muscular dystrophy

Author

Passarelli, C., Selvatici, R., Carrieri, A., Raimo, F.R. di, Falzarano, M.S., Fortunato, F., Rossi, R., Straub, V., Bushby, K., Reza, M., Zharaieva, I., D'Amico, A., Bertini, E., Merlini, L., Sabatelli, P., Borgiani, P., Novelli, G., Messina, S., Pane, M., Mercuri, E., Claustres, M., Tuffery-Giraud, S., Aartsma-Rus, A., Spitali, P., T'Hoen, P.A.C., Lochmuller, H., Strandberg, K., Al-Khalili, C., Kotelnikova, E., Lebowitz, M., Schwartz, E., Muntoni, F., Scapoli, C., and Ferlini, A.

Subjects
receptor, TNFR, biomarker, corticosteroid (betamethasone), Duchenne
Abstract

Background Duchenne muscular dystrophy (DMD) is a rare and severe X-linked muscular dystrophy in which the standard of care with variable outcome, also due to different drug response, is chronic off-label treatment with corticosteroids (CS). In order to search for SNP biomarkers for corticosteroid responsiveness, we genotyped variants across 205 DMD-related genes in patients with differential response to steroid treatment. Methods and Findings We enrolled a total of 228 DMD patients with identified dystrophin mutations, 78 of these patients have been under corticosteroid treatment for at least 5 years. DMD patients were defined as high responders (HR) if they had maintained the ability to walk after 15 years of age and low responders (LR) for those who had lost ambulation before the age of 10 despite corticosteroid therapy. Based on interactome mapping, we prioritized 205 genes and sequenced them in 21 DMD patients (discovery cohort or DiC = 21). We identified 43 SNPs that discriminate between HR and LR. Discriminant Analysis of Principal Components (DAPC) prioritized 2 response-associated SNPs in theTNFRSF10Agene. Validation of this genotype was done in two additional larger cohorts composed of 46 DMD patients on corticosteroid therapy (validation cohorts or VaC1), and 150 non ambulant DMD patients and never treated with corticosteroids (VaC2). SNP analysis in all validation cohorts (N= 207) showed that the CT haplotype is significantly associated with HR DMDs confirming the discovery results. Conclusion We have shown that TNFRSF10A CT haplotype correlates with corticosteroid response in DMD patients and propose it as an exploratory CS response biomarker.

Published
2020

15. Surnames in Argentina: a population study through isonymy

Author

Dipierri, J.E., Alfaro, E.L., Scapoli, C., Mamolini, E., Rodriguez-Larralde, A., and Barrai, I.

Subjects
Argentina -- Social aspects, Names, Personal -- Research, Anthropology/archeology/folklore
Abstract

In order to study the isonymic structure of Argentina, the surname distributions of 22.6 million electors registered for the year 2001 were analyzed in the 24 districts (distritos) and 541 municipalities (municipios) of the country. The number of different surnames found was 414,441. Matrices of isonymic distances between districts were constructed and tested for correlation with the geographic distance between the capital towns of the districts. We found that, for the whole of Argentina, Euclidean distance was correlated with the log of geographic distance (r 0.480 [+ or -] 0.067). A dendrogram of the 24 regions was built from the matrix of Euclidean distances, using the UPGMA method. The clusters identified by the dendrogram are coincident with conterminous geographical regions of the country. Random inbreeding calculated from isonymy, [F.sub.ST], was highest in La Rioja, Corrientes, and Santiago del Estero. It was lowest in the area of Buenos Aires and in the north-central region of Santa F6. Average Fisher's [alpha] for municipalities was 358; for districts, it was 422; and for Argentina as a unit, it was 602. The geographical distribution of [alpha] in 541 municipalities, high in the east and lower in the west of the country, is compatible with the settlement in the 20th century of subsequent waves of immigrants moving from the North Atlantic coast toward the foot of the Andes and toward the south. The present structure of Argentina indicates that migration dominates over drift. Am J Phys Anthropol 128: 199-209, 2005. KEY WORDS Argentina; population structure; surname distribution; inbreeding levels by isonymy; isolation by distance

Published
2005

17. The names of Spain: a study of the isonymy structure of Spain

Author

Rodriguez-Larralde, A., Gonzales-Martin, A., Scapoli, C., and Barrai, I.

Subjects
Names, Personal -- Demographic aspects, Population geography -- Research, Inbreeding -- Demographic aspects, Anthropology/archeology/folklore
Abstract

In order to estimate the isonymy structure of Spain, we studied surname distribution in 283 Spanish towns based on 3.625 million telephone users selected from 6.328 million users, downloaded from a commercial CD-ROM which contains all 13 million users in the country. Since in Spain the surname is made by the paternal and the maternal surname, it was possible to classify surnames according to parental origin. Two matrices of isonymy distances, one for paternal and one for maternal surnames, were constructed and tested for correlation with geographic distance. For the whole of Spain, Euclidean distance was significantly but weakly correlated with geographic distance both for paternal and maternal surnames, with r = 0.205 [+ or -] 0.013 and r = 0.263 [+ or -] 0.012, respectively. Two dendrograms of the 283 sampled towns were built from the two matrices of Euclidean distance. They are largely colinear. Four main clusters identified by the dendrograms are correlated with geography. Given the surname structure of Spain, we were able to calculate from isonymy and for each town 1) total or expressed inbreeding, 2) random or expected inbreeding, and 3) local inbreeding. Total inbreeding, [F.sub.IT], was highest in the North Atlantic regions and lowest along the Mediterranean Coast. The lowest levels were found in Andalusia, Catalunyia, Valencia, and Navarra. Random inbreeding, [F.sub.ST], had a similar geographical pattern. Local inbreeding, [F.sub.IS], was relatively uniform in the whole of Spain. In towns, random inbreeding dominates over local inbreeding. From the analysis, it emerges that the northwestern area of Spain is the most inbred. KEY WORDS population structure; surname distribution; inbreeding by isonymy; isolation by distance

Published
2003

25. Genome-wide Association Study of Change in Fasting Glucose over time in 13,807 non-diabetic European Ancestry Individuals

Author

Liu, C.-T. (Ching-Ti), Merino, J. (Jordi), Rybin, D. (Denis), DiCorpo, D. (Daniel), Benke, P.J. (Paul), Bragg-Gresham, J.L. (Jennifer L.), Canouil, M. (Mickaël), Corre, T. (Tanguy), Grallert, H. (Harald), Isaacs, A.J. (Aaron), Kutalik, Z. (Zoltán), Lahti, J. (Jari), Marullo, L. (Letizia), Marzi, C. (Carola), Rasmussen-Torvik, L.J. (Laura), Rocheleau, G. (Ghislain), Rueedi, R. (Rico), Scapoli, C. (Chiara), Verweij, N. (Niek), Vogelzangs, N. (Nicole), Willems, S.M. (Sara), Yengo, L. (Loic), Bakker, S.J.L. (Stephan), Beilby, J.P. (John), Hui, J. (Jennie), Kajantie, E. (Eero), Müller-Nurasyid, M. (Martina), Rathmann, W. (Wolfgang), Balkau, B. (Beverley), Bergmann, S.M. (Sven), Hagen, K. (Knut), Florez, J.C. (Jose), Froguel, P. (Philippe), Harris, T.B. (Tamara), Hung, J. (Joseph), James, A. (Alan), Kavousi, M. (Maryam), Miljkovic, I. (Iva), Musk, A.W. (Arthur W.), Palmer, L.J. (Lyle J.), Peters, A. (Annette), Roussel, R. (Ronan), Harst, P. (Pim) van der, Duijn, C.M. (Cornelia) van, Vollenweider, P. (Peter), Barroso, I.E. (Inês), Prokopenko, I. (Inga), Amin, N. (Najaf), Meigs, J.B. (James), Bouatia-Naji, N. (Nabila), Liu, C.-T. (Ching-Ti), Merino, J. (Jordi), Rybin, D. (Denis), DiCorpo, D. (Daniel), Benke, P.J. (Paul), Bragg-Gresham, J.L. (Jennifer L.), Canouil, M. (Mickaël), Corre, T. (Tanguy), Grallert, H. (Harald), Isaacs, A.J. (Aaron), Kutalik, Z. (Zoltán), Lahti, J. (Jari), Marullo, L. (Letizia), Marzi, C. (Carola), Rasmussen-Torvik, L.J. (Laura), Rocheleau, G. (Ghislain), Rueedi, R. (Rico), Scapoli, C. (Chiara), Verweij, N. (Niek), Vogelzangs, N. (Nicole), Willems, S.M. (Sara), Yengo, L. (Loic), Bakker, S.J.L. (Stephan), Beilby, J.P. (John), Hui, J. (Jennie), Kajantie, E. (Eero), Müller-Nurasyid, M. (Martina), Rathmann, W. (Wolfgang), Balkau, B. (Beverley), Bergmann, S.M. (Sven), Hagen, K. (Knut), Florez, J.C. (Jose), Froguel, P. (Philippe), Harris, T.B. (Tamara), Hung, J. (Joseph), James, A. (Alan), Kavousi, M. (Maryam), Miljkovic, I. (Iva), Musk, A.W. (Arthur W.), Palmer, L.J. (Lyle J.), Peters, A. (Annette), Roussel, R. (Ronan), Harst, P. (Pim) van der, Duijn, C.M. (Cornelia) van, Vollenweider, P. (Peter), Barroso, I.E. (Inês), Prokopenko, I. (Inga), Amin, N. (Najaf), Meigs, J.B. (James), and Bouatia-Naji, N. (Nabila)

Abstract

Type 2 diabetes (T2D) affects the health of millions of people worldwide. The identification of genetic determinants associated with changes in glycemia over time might illuminate biological features that precede the development of T2D. Here we conducted a genome-wide association study of longitudinal fasting glucose changes in up to 13,807 non-diabetic individuals of European descent from nine cohorts. Fasting glucose change over time was defined as the slope of the line defined by multiple fasting glucose measurements obtained over up to 14 years of observation. We tested for associations of genetic variants with inverse-normal transformed fasting glucose change over time adjusting for age at baseline, sex, and principal components of genetic variation. We found no genome-wide significant association (P < 5 × 10−8) with fasting glucose change over time. Seven loci previously associated with T2D, fasting glucose or HbA1c were nominally (P < 0.05) associated with fasting glucose change over time. Limited power influences unambiguous interpretation, but these dat

Published
2019
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26. C6orf10 low-frequency and rare variants in italian multiple sclerosis patients

Author

Ziliotto, N, Marchetti, G, Scapoli, C, Bovolenta, M, Meneghetti, S, Benazzo, A, Lunghi, B, Balestra, D, Laino, L, Bozzini, N, Guidi, I, Salvi, F, Straudi, S, Gemmati, D, Menegatti, E, Zamboni, P, Bernardi, F, Ziliotto, Nicole, Marchetti, Giovanna, Scapoli, Chiara, Bovolenta, Matteo, Meneghetti, Silvia, Benazzo, Andrea, Lunghi, Barbara, Balestra, Dario, Laino, Lorenza Anna, Bozzini, Nicolò, Guidi, Irene, Salvi, Fabrizio, Straudi, Sofia, Gemmati, Donato, Menegatti, Erica, Zamboni, Paolo, Bernardi, Francesco, Ziliotto, N, Marchetti, G, Scapoli, C, Bovolenta, M, Meneghetti, S, Benazzo, A, Lunghi, B, Balestra, D, Laino, L, Bozzini, N, Guidi, I, Salvi, F, Straudi, S, Gemmati, D, Menegatti, E, Zamboni, P, Bernardi, F, Ziliotto, Nicole, Marchetti, Giovanna, Scapoli, Chiara, Bovolenta, Matteo, Meneghetti, Silvia, Benazzo, Andrea, Lunghi, Barbara, Balestra, Dario, Laino, Lorenza Anna, Bozzini, Nicolò, Guidi, Irene, Salvi, Fabrizio, Straudi, Sofia, Gemmati, Donato, Menegatti, Erica, Zamboni, Paolo, and Bernardi, Francesco

Abstract

In light of the complex nature of multiple sclerosis (MS) and the recently estimated contribution of low-frequency variants into disease, decoding its genetic risk components requires novel variant prioritization strategies. We selected, by reviewing MS Genome Wide Association Studies (GWAS), 107 candidate loci marked by intragenic single nucleotide polymorphisms (SNPs) with a remarkable association (p-value ≤ 5 × 10−6). A whole exome sequencing (WES)-based pilot study of SNPs with minor allele frequency (MAF) ≤ 0.04, conducted in three Italian families, revealed 15 exonic low-frequency SNPs with affected parent-child transmission. These variants were detected in 65/120 Italian unrelated MS patients, also in combination (22 patients). Compared with databases (controls gnomAD, dbSNP150, ExAC, Tuscany-1000 Genome), the allelic frequencies of C6orf10 rs16870005 and IL2RA rs12722600 were significantly higher (i.e., controls gnomAD, p = 9.89 × 10−7 and p < 1 × 10−20). TET2 rs61744960 and TRAF3 rs138943371 frequencies were also significantly higher, except in Tuscany-1000 Genome. Interestingly, the association of C6orf10 rs16870005 (Ala431Thr) with MS did not depend on its linkage disequilibrium with the HLA-DRB1 locus. Sequencing in the MS cohort of the C6orf10 3′ region revealed 14 rare mutations (10 not previously reported). Four variants were null, and significantly more frequent than in the databases. Further, the C6orf10 rare variants were observed in combinations, both intra-locus and with other low-frequency SNPs. The C6orf10 Ser389Xfr was found homozygous in a patient with early onset of the MS. Taking into account the potentially functional impact of the identified exonic variants, their expression in combination at the protein level could provide functional insights in the heterogeneous pathogenetic mechanisms contributing to MS.

Published
2019

30. Comparison of structures from frequencies of genes and surnames in the population of Ferrara

Author

Beretta, M., Mamolini, E., Ravani, A., Vullo, C., Scapoli, C., Barale, R., Rodriguez-Larralde, A., and Barrai, I.

Subjects
Ferrara, Italy (Province) -- Demographic aspects, Gene frequency -- Analysis -- Research, Population genetics -- Research -- Analysis, Biological sciences, Analysis, Research, Demographic aspects
Abstract

The genetic structure based on isonymy and on gene frequencies of 7 enzyme systems was studied in a sample of 1361 individuals residing in the Ferrara Province in the Po [...]

Published
1993

33. The structure and migration patterns of the population of Uruguay through isonymy.

Author

Carrieri, A., Sans, M., Dipierri, J. E., Alfaro, E., Mamolini, E., Sandri, M., Rodríguez-Larralde, A., Scapoli, C., and Barrai, I.

Abstract

Surname distribution can be a useful tool for studying the genetic structure of a human population. In South America, the Uruguay population has traditionally been considered to be of European ancestry, despite its trihybrid origin, as proved through genetics. The aim of this study was to investigate the structure of the Uruguayan population, resulting from population movements and surname drift in the country. The distribution of the surnames of 2,501,774 people on the electoral register was studied in the nineteen departments of Uruguay. Multivariate approaches were used to estimate isonymic parameters. Isolation by Distance was measured by correlating isonymic and geographic distances. In the study sample, the most frequent surnames were consistently Spanish, reflecting the fact that the first immigration waves occurred before Uruguayan independence. Only a few surnames of Native origin were recorded. The effective surname number (α) for the entire country was 302, and the average for departments was 235.8 ± 19. Inbreeding estimates were lower in the south-west of the country and in the densely populated Montevideo area. Isonymic distances between departments were significantly correlated with linear geographic distance (p < 0.001) indicating continuously increasing surname distances up to 400 km. Surnames form clusters related to geographic regions affected by different historical processes. The isonymic structure of Uruguay shows a radiation towards the east and north, with short-range migration playing a major role, while the contribution of drift, considering the small variance of α, appears to be minor. [ABSTRACT FROM AUTHOR]

Published
2020
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34. Prevalence of bleeding on probing: a cohort study in a specialist periodontal clinic.

Author

Farina R, Scapoli C, Carrieri A, Guarnelli ME, and Trombelli L

Abstract

Objectives: To assess the prevalence and distribution of bleeding on probing (BoP) in a cohort of periodontally diseased patients, evaluate the influence of patient-related predictors on BoP variability, and characterize two subgroups of patients with a significantly different BoP score. Method and Materials: Six hundred and one patients were retrospectively included. The percentage of BoP-positive sites was calculated for the entire dentition (%BoPtotal) and within different areas of the dentition. The influence of patient-related predictors on intersubject variability in %BoPtotal was evaluated. Two subgroups of patients, belonging to the lowest (LB, low bleeding) and highest (high bleeding, HB) quartile of patient distribution according to %BoPtotal, were identified. Results: Median %BoPtotal was 26.4%, with 99% of the population showing at least one BoP-positive site. %BoPtotal was positively correlated with patient age and number of sites with pocket probing depth (PPD) ≥ 5 mm, and significantly more prevalent in mandibular vs maxillary sites, posterior vs anterior sites, interproximal vs oral/buccal sites, and sites with PPD ≥ 5 mm vs PPD ≤ 4 mm. LB and HB patients were significantly different for %BoPtotal, as well as in sites with PPD ≤ 4 mm and PPD ≥ 5 mm, but not for sex, age, smoking status, daily cigarette consumption, diabetic status, and number of sites with PPD ≥ 5 mm. Conclusions: BoP was highly prevalent and variable in both patients and different areas of the dentition; patient-related factors and site-specific characteristics (such as age, number of periodontal pockets, probing depth, tooth type, and aspects) seem to be partly responsible for the individual variation in BoP; and HB and LB were not significantly different with respect to the investigated predictors. [ABSTRACT FROM AUTHOR]

Published
2011

35. Immediate loading of dental implants supporting fixed partial dentures in the posterior mandible: a randomized controlled split-mouth study--machined versus titanium oxide implant surface.

Author

Schincaglia GP, Marzola R, Scapoli C, and Scotti R

Abstract

PURPOSE: A split-mouth study was conducted to compare dental implants with either machined or titanium oxide (TiO) surfaces immediately loaded with fixed partial dentures in the posterior mandible. MATERIALS AND METHODS: Ten patients with bilateral partial edentulism in the posterior mandible received 42 implants; 20 on the test (TiO) and 22 on the control (machined) side. The implants were loaded within 24 hours postsurgery. At implant placement the maximum insertion torque (IT) was recorded. Implant stability quotient (ISQ) was also evaluated at baseline (day 0) and 1, 2, 4, 12, 24, and 52 weeks following implant placement. The radiographic bone level (RBL) change was measured on periapical radiographs at baseline and 12 months after loading. Means for the 2 groups were compared by paired t test. RESULTS: The overall implant success rate was 95%. No implants were lost in the test group; 2 failed in the control group. The difference between the groups in RBL change after 1 year of function was not statistically significant (P = .224). However, average RBL change for machined implants in distal positions was significantly higher than for TiO surface implants in the same position (post-hoc comparison; P = .048). ISQ and peak IT values did not differ between the groups (P = .414 and P = .762, respectively). The high IT necessary to insert the implants did not seem to affect the RBL change (P = .203). CONCLUSIONS: No significant difference was observed between machined and TiO implant surface in terms of RBL change or ISQ, although TiO implants may provide a lower RBL change compared to machined implants when utilized in the distal position. Immediate loading of implants using fixed partial dentures in posterior mandible may be considered as a treatment option if implants are inserted with IT > or = 20 Ncm and ISQ > or = 60 into nonaugmented bone and loaded with light centric occlusal contact. [ABSTRACT FROM AUTHOR]

Published
2007

38. Fine Structure of Maxillary Palps in Adults of Hermetia illucens(Diptera: Stratiomyidae)

Author

Pezzi, M, Scapoli, C, Bharti, M, Faucheux, M J, Chicca, M, Leis, M, Marchetti, M G, Mamolini, E, Salvia, R, Falabella, P, and Bonacci, T

Abstract

A relevant species in waste management but also in forensic, medical, and veterinary sciences is the black soldier fly, Hermetia illucens(Linnaeus; Diptera: Stratiomyidae). An ultrastructural study by scanning electron microscopy (SEM) was conducted for the first time on maxillary palps of both sexes, describing in detail the morphology and distribution of sensilla and microtrichia. The maxillary palps, composed of two segments, show sexual dimorphism in length and shape. In both sexes, the first segment is covered only by microtrichia, but the second one is divided into two parts: the proximal one, covered only by microtrichia, and the distal one containing both microtrichia and sensory structures. These structures include two types of sensory pits and one of chaetic sensilla. Due to sexual dimorphism in palp size, females have a higher number of sensory pits. The sexual dimorphism of palps and the presence and role of sensilla in H. illucenswas discussed in comparison to other species of the family Stratiomyidae and of other Diptera. This study may represent a base for further investigations on mouthpart structures of this species, involved in key physiological activities, such as feeding, mating and oviposition.

Published
2021
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39. Relationship between serum uric acid and cardiovascular phenotypes in the Brisighella cohort: a Mendelian randomization analysis

Author

Marullo, Letizia, Rosticci, M., Cicero, A. F. G., Vijen, S., Magi, R., Fischer, K., Pervjakova, N., D’Addato, S., Rizzoli, E., Giovannini, M., De Souza, P. Borges, Siddiq, A., Scapoli, C., Prokopenko, I., and Borghi, C.

Subjects
Serum uric acid, Serum uric acid, cardiovascular diseases, Brisighella cohort, Mendelian randomization analysis, Brisighella cohort, Mendelian randomization analysis, NO, cardiovascular diseases
Published
2015

40. Clinical effect of subgingival tetracycline irrigation and tetracycline-loaded fiber application in the treatment of adult periodontitis.

Author

Trombelli, L., Scabbia, A., Carotta, V., Scapoli, C., and Calura, G.

Subjects
PERIODONTITIS treatment, PERIODONTAL pockets, DENTAL scaling, SCALERS (Dentistry), TETRACYCLINE, DENTAL plaque, DEBRIDEMENT, PERIODONTAL disease, ANTI-infective agents
Abstract

A controlled clinical trial was carried out to compare the clinical effect of combined antimicrobial-mechanical treatment modalities on moderate-to-deep periodontal pockets in patients with adult periodontitis. Twelve patients having at least three nonadjacent sites of periodontitis were included in the split-mouth study. Gingival Index, Plaque Record, bleeding on probing, probing depth, attachment level, and recession depth were recorded immediately before treatment. In the control site, supragingival and subgingival scaling was performed with an ultrasonic scaler. One experimental site received supplemental irrigation with 15 mL of a 100-mg/mL tetracycline solution, while the other received a tetracycline-loaded fiber after mechanical instrumentation. Fibers were left in place for 10 days. Reevaluation 30 and 60 days after treatment showed that all three treatment modalities were effective in improving clinical parameters. No adjunctive effect on the healing response was obtained by augmenting mechanical debridemnent with tetracycline. [ABSTRACT FROM AUTHOR]

Published
1996

47. Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy

Author

Neri, M., primary, Scotton, C., additional, Scapoli, C., additional, Carrieri, A., additional, Di Raimo, F., additional, Bovolenta, M., additional, Gherardi, S., additional, Armaroli, A., additional, Passarelli, C., additional, D'Amico, A., additional, Bertini, E., additional, Pane, M., additional, Mercuri, E., additional, Pesole, G., additional, Wenyan, L., additional, Mingyan, F., additional, Gualandi, F., additional, Schwartz, E., additional, Yuryev, A., additional, and Ferlini, A., additional

Published
2015
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48. 1A.11

Author

Rosticci, M., primary, Marullo, L., additional, Cicero, A.F.G., additional, Magi, R., additional, Fischer, K., additional, Pervjakova, N., additional, D’Addato, S., additional, Rizzoli, E., additional, Massimo, G., additional, Giovannini, M., additional, Angelini, S., additional, Scapoli, C., additional, Prokopenko, I., additional, and Borghi, C., additional

Published
2015
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49. PP.42.03

Author

Marullo, L., primary, Rosticci, M., additional, Cicero, A.F.G., additional, Vijen, S., additional, Magi, R., additional, Fischer, K., additional, Pervjakova, N., additional, D’Addato, S., additional, Rizzoli, E., additional, Giovannini, M., additional, De Souza, P. Borges, additional, Siddiq, A., additional, Scapoli, C., additional, Prokopenko, I., additional, and Borghi, C., additional

Published
2015
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