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3. Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Author

Tabassum, R. (Rubina), Ramo, J. T. (Joel T.), Ripatti, P. (Pietari), Koskela, J. T. (Jukka T.), Kurki, M. (Mitja), Karjalainen, J. (Juha), Palta, P. (Priit), Hassan, S. (Shabbeer), Nunez-Fontarnau, J. (Javier), Kiiskinen, T. T. (Tuomo T. J.), Soderlund, S. (Sanni), Matikainen, N. (Niina), Gerl, M. J. (Mathias J.), Surma, M. A. (Michal A.), Klose, C. (Christian), Stitziel, N. O. (Nathan O.), Laivuori, H. (Hannele), Havulinna, A. S. (Aki S.), Service, S. K. (Susan K.), Salomaa, V. (Veikko), Pirinen, M. (Matti), Jauhiainen, M. (Matti), Daly, M. J. (Mark J.), Freimer, N. B. (Nelson B.), Palotie, A. (Aarno), Taskinen, M.-R. (Marja-Riitta), Simons, K. (Kai), Ripatti, S. (Samuli), Jalanko, A. (Anu), Kaprio, J. (Jaakko), Donner, K. (Kati), Kaunisto, M. (Mari), Mars, N. (Nina), Dada, A. (Alexander), Shcherban, A. (Anastasia), Ganna, A. (Andrea), Lehisto, A. (Arto), Kilpelainen, E. (Elina), Brein, G. (Georg), Awaisa, G. (Ghazal), Harju, J. (Jarmo), Parr, K. (Kalle), Parolo, P. D. (Pietro Della Briotta), Kajanne, R. (Risto), Lemmela, S. (Susanna), Sipila, T. P. (Timo P.), Sipila, T. (Tuomas), Lyhs, U. (Ulrike), Llorens, V. (Vincent), Niiranen, T. (Teemu), Kristiansson, K. (Kati), Mannikko, L. (Lotta), Jimenez, M. G. (Manuel Gonzalez), Perola, M. (Markus), Wong, R. (Regis), Kilpi, T. (Terhi), Hiekkalinna, T. (Tero), Jarvensivu, E. (Elina), Kaiharju, E. (Essi), Mattsson, H. (Hannele), Laukkanen, M. (Markku), Laiho, P. (Paivi), Lahteenmaki, S. (Sini), Sistonen, T. (Tuuli), Soini, S. (Sirpa), Ziemann, A. (Adam), Lehtonen, A. (Anne), Lertratanakul, A. (Apinya), Georgantas, B. (Bob), Riley-Gillis, B. (Bridget), Quarless, D. (Danjuma), Rahimov, F. (Fedik), Heap, G. (Graham), Jacob, H. (Howard), Waring, J. (Jeffrey), Davis, J. W. (Justin Wade), Smaoui, N. (Nizar), Popovic, R. (Relja), Esmaeeli, S. (Sahar), Waring, J. (Jeff), Matakidou, A. (Athena), Challis, B. (Ben), Close, D. (David), Petrovski, S. (Slave), Karlsson, A. (Antti), Schleutker, J. (Johanna), Pulkki, K. (Kari), Virolainen, P. (Petri), Kallio, L. (Lila), Mannermaa, A. (Arto), Heikkinen, S. (Sami), Kosma, V.-M. (Veli-Matti), Chen, C.-Y. (Chia-Yen), Runz, H. (Heiko), Liu, J. (Jimmy), Bronson, P. (Paola), John, S. (Sally), Landenpera, S. (Sanni), Eaton, S. (Susan), Zhou, W. (Wei), Hendolin, M. (Minna), Tuovila, O. (Outi), Pakkanen, R. (Raimo), Maranville, J. (Joseph), Usiskin, K. (Keith), Hochfeld, M. (Marla), Plenge, R. (Robert), Yang, R. (Robert), Biswas, S. (Shameek), Greenberg, S. (Steven), Laakkonen, E. (Eija), Kononen, J. (Juha), Paloneva, J. (Juha), Kujala, U. (Urho), Kuopio, T. (Teijo), Laukkanen, J. (Jari), Kangasniemi, E. (Eeva), Savinainen, K. (Kimmo), Laaksonen, R. (Reijo), Arvas, M. (Mikko), Ritari, J. (Jarmo), Partanen, J. (Jukka), Hyvarinen, K. (Kati), Wahlfors, T. (Tiina), Peterson, A. (Andrew), Oh, D. (Danny), Chang, D. (Diana), Teng, E. (Edmond), Strauss, E. (Erich), Kerchner, G. (Geoff), Chen, H. (Hao), Chen, H. (Hubert), Schutzman, J. (Jennifer), Michon, J. (John), Hunkapiller, J. (Julie), McCarthy, M. (Mark), Bowers, N. (Natalie), Lu, T. (Tim), Bhangale, T. (Tushar), Pulford, D. (David), Waterworth, D. (Dawn), Kulkarni, D. (Diptee), Xu, F. (Fanli), Betts, J. (Jo), Gordillo, J. E. (Jorge Esparza), Hoffman, J. (Joshua), Auro, K. (Kirsi), McCarthy, L. (Linda), Ghosh, S. (Soumitra), Ehm, M. (Meg), Pitkanen, K. (Kimmo), Makela, T. (Tomi), Loukola, A. (Anu), Joensuu, H. (Heikki), Sinisalo, J. (Juha), Eklund, K. (Kari), Aaltonen, L. (Lauri), Farkkila, M. (Martti), Carpen, O. (Olli), Kauppi, P. (Paula), Tienari, P. (Pentti), Ollila, T. (Terhi), Tuomi, T. (Tiinamaija), Meretoja, T. (Tuomo), Pitkaranta, A. (Anne), Turunen, J. (Joni), Hannula-Jouppi, K. (Katariina), Pikkarainen, S. (Sampsa), Seitsonen, S. (Sanna), Koskinen, M. (Miika), Palomaki, A. (Antti), Rinne, J. (Juha), Metsarinne, K. (Kaj), Elenius, K. (Klaus), Pirila, L. (Laura), Koulu, L. (Leena), Voutilainen, M. (Markku), Juonala, M. (Markus), Peltonen, S. (Sirkku), Aaltonen, V. (Vesa), Loboda, A. (Andrey), Podgornaia, A. (Anna), Chhibber, A. (Aparna), Chu, A. (Audrey), Fox, C. (Caroline), Diogo, D. (Dorothee), Holzinger, E. (Emily), Eicher, J. (John), Gormley, P. (Padhraig), Mehta, V. (Vinay), Wang, X. (Xulong), Kettunen, J. (Johannes), Pylkas, K. (Katri), Kalaoja, M. (Marita), Karjalainen, M. (Minna), Hinttala, R. (Reetta), Kaarteenaho, R. (Riitta), Vainio, S. (Seppo), Mantere, T. (Tuomo), Remes, A. (Anne), Huhtakangas, J. (Johanna), Junttila, J. (Juhani), Tasanen, K. (Kaisa), Huilaja, L. (Laura), Luodonpaa, M. (Marja), Hautala, N. (Nina), Karihtala, P. (Peeter), Kauppila, S. (Saila), Harju, T. (Terttu), Blomster, T. (Timo), Soininen, H. (Hilkka), Harvima, I. (Ilkka), Pihlajamaki, J. (Jussi), Kaarniranta, K. (Kai), Pelkonen, M. (Margit), Laakso, M. (Markku), Hiltunen, M. (Mikko), Kiviniemi, M. (Mikko), Kaipiainen-Seppanen, O. (Oili), Auvinen, P. (Paivi), Kalviainen, R. (Reetta), Julkunen, V. (Valtteri), Malarstig, A. (Anders), Hedman, A. (Asa), Marshal, C. (Catherine), Whelan, C. (Christopher), Lehtonen, H. (Heli), Parkkinen, J. (Jaakko), Linden, K. (Kari), Kalpala, K. (Kirsi), Miller, M. (Melissa), Bing, N. (Nan), McDonough, S. (Stefan), Chen, X. (Xing), Hu, X. (Xinli), Wu, Y. (Ying), Auranen, A. (Annika), Jussila, A. (Airi), Uusitalo-Jarvinen, H. (Hannele), Kankaanranta, H. (Hannu), Uusitalo, H. (Hannu), Peltola, J. (Jukka), Kahonen, M. (Mika), Isomaki, P. (Pia), Laitinen, T. (Tarja), Salmi, T. (Teea), Muslin, A. (Anthony), Wang, C. (Clarence), Chatelain, C. (Clement), Xu, E. (Ethan), Auge, F. (Franck), Call, K. (Kathy), Klinger, K. (Kathy), Crohns, M. (Marika), Gossel, M. (Matthias), Palin, K. (Kimmo), Rivas, M. (Manuel), Siirtola, H. (Harri), and Tabuenca, J. G. (Javier Gracia)

Subjects
lipids (amino acids, peptides, and proteins)
Abstract

Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P

Published
2019

4. Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Author

Tabassum, R, Ramo, JT, Ripatti, P, Koskela, JT, Kurki, M, Karjalainen, J, Palta, P, Hassan, S, Nunez-Fontarnau, J, Kiiskinen, TTJ, Soderlund, S, Matikainen, N, Gerl, MJ, Surma, MA, Klose, C, Stitziel, NO, Laivuori, H, Havulinna, AS, Service, SK, Salomaa, V, Pirinen, M, Jauhiainen, M, Daly, MJ, Freimer, NB, Palotie, A, Taskinen, M-R, Simons, K, Ripatti, S, Jalanko, A, Kaprio, J, Donner, K, Kaunisto, M, Mars, N, Dada, A, Shcherban, A, Ganna, A, Lehisto, A, Kilpelainen, E, Brein, G, Awaisa, G, Harju, J, Parr, K, Parolo, PDB, Kajanne, R, Lemmela, S, Sipila, TP, Sipila, T, Lyhs, U, Llorens, V, Niiranen, T, Kristiansson, K, Mannikko, L, Jimenez, MG, Perola, M, Wong, R, Kilpi, T, Hiekkalinna, T, Jarvensivu, E, Kaiharju, E, Mattsson, H, Laukkanen, M, Laiho, P, Lahteenmaki, S, Sistonen, T, Soini, S, Ziemann, A, Lehtonen, A, Lertratanakul, A, Georgantas, B, Riley-Gillis, B, Quarless, D, Rahimov, F, Heap, G, Jacob, H, Waring, J, Davis, JW, Smaoui, N, Popovic, R, Esmaeeli, S, Matakidou, A, Challis, B, Close, D, Petrovski, S, Karlsson, A, Schleutker, J, Pulkki, K, Virolainen, P, Kallio, L, Mannermaa, A, Heikkinen, S, Kosma, V-M, Chen, C-Y, Runz, H, Liu, J, Bronson, P, John, S, Landenpera, S, Eaton, S, Zhou, W, Hendolin, M, Tuovila, O, Pakkanen, R, Maranville, J, Usiskin, K, Hochfeld, M, Plenge, R, Yang, R, Biswas, S, Greenberg, S, Laakkonen, E, Kononen, J, Paloneva, J, Kujala, U, Kuopio, T, Laukkanen, J, Kangasniemi, E, Savinainen, K, Laaksonen, R, Arvas, M, Ritari, J, Partanen, J, Hyvarinen, K, Wahlfors, T, Peterson, A, Oh, D, Chang, D, Teng, E, Strauss, E, Kerchner, G, Chen, H, Schutzman, J, Michon, J, Hunkapiller, J, McCarthy, M, Bowers, N, Lu, T, Bhangale, T, Pulford, D, Waterworth, D, Kulkarni, D, Xu, F, Betts, J, Gordillo, JE, Hoffman, J, Auro, K, McCarthy, L, Ghosh, S, Ehm, M, Pitkanen, K, Makela, T, Loukola, A, Joensuu, H, Sinisalo, J, Eklund, K, Aaltonen, L, Farkkila, M, Carpen, O, Kauppi, P, Tienari, P, Ollila, T, Tuomi, T, Meretoja, T, Pitkaranta, A, Turunen, J, Hannula-Jouppi, K, Pikkarainen, S, Seitsonen, S, Koskinen, M, Palomaki, A, Rinne, J, Metsarinne, K, Elenius, K, Pirila, L, Koulu, L, Voutilainen, M, Juonala, M, Peltonen, S, Aaltonen, V, Loboda, A, Podgornaia, A, Chhibber, A, Chu, A, Fox, C, Diogo, D, Holzinger, E, Eicher, J, Gormley, P, Mehta, V, Wang, X, Kettunen, J, Pylkas, K, Kalaoja, M, Karjalainen, M, Hinttala, R, Kaarteenaho, R, Vainio, S, Mantere, T, Remes, A, Huhtakangas, J, Junttila, J, Tasanen, K, Huilaja, L, Luodonpaa, M, Hautala, N, Karihtala, P, Kauppila, S, Harju, T, Blomster, T, Soininen, H, Harvima, I, Pihlajamaki, J, Kaarniranta, K, Pelkonen, M, Laakso, M, Hiltunen, M, Kiviniemi, M, Kaipiainen-Seppanen, O, Auvinen, P, Kalviainen, R, Julkunen, V, Malarstig, A, Hedman, A, Marshal, C, Whelan, C, Lehtonen, H, Parkkinen, J, Linden, K, Kalpala, K, Miller, M, Bing, N, McDonough, S, Chen, X, Hu, X, Wu, Y, Auranen, A, Jussila, A, Uusitalo-Jarvinen, H, Kankaanranta, H, Uusitalo, H, Peltola, J, Kahonen, M, Isomaki, P, Laitinen, T, Salmi, T, Muslin, A, Wang, C, Chatelain, C, Xu, E, Auge, F, Call, K, Klinger, K, Crohns, M, Gossel, M, Palin, K, Rivas, M, Siirtola, H, Tabuenca, JG, Tabassum, R, Ramo, JT, Ripatti, P, Koskela, JT, Kurki, M, Karjalainen, J, Palta, P, Hassan, S, Nunez-Fontarnau, J, Kiiskinen, TTJ, Soderlund, S, Matikainen, N, Gerl, MJ, Surma, MA, Klose, C, Stitziel, NO, Laivuori, H, Havulinna, AS, Service, SK, Salomaa, V, Pirinen, M, Jauhiainen, M, Daly, MJ, Freimer, NB, Palotie, A, Taskinen, M-R, Simons, K, Ripatti, S, Jalanko, A, Kaprio, J, Donner, K, Kaunisto, M, Mars, N, Dada, A, Shcherban, A, Ganna, A, Lehisto, A, Kilpelainen, E, Brein, G, Awaisa, G, Harju, J, Parr, K, Parolo, PDB, Kajanne, R, Lemmela, S, Sipila, TP, Sipila, T, Lyhs, U, Llorens, V, Niiranen, T, Kristiansson, K, Mannikko, L, Jimenez, MG, Perola, M, Wong, R, Kilpi, T, Hiekkalinna, T, Jarvensivu, E, Kaiharju, E, Mattsson, H, Laukkanen, M, Laiho, P, Lahteenmaki, S, Sistonen, T, Soini, S, Ziemann, A, Lehtonen, A, Lertratanakul, A, Georgantas, B, Riley-Gillis, B, Quarless, D, Rahimov, F, Heap, G, Jacob, H, Waring, J, Davis, JW, Smaoui, N, Popovic, R, Esmaeeli, S, Matakidou, A, Challis, B, Close, D, Petrovski, S, Karlsson, A, Schleutker, J, Pulkki, K, Virolainen, P, Kallio, L, Mannermaa, A, Heikkinen, S, Kosma, V-M, Chen, C-Y, Runz, H, Liu, J, Bronson, P, John, S, Landenpera, S, Eaton, S, Zhou, W, Hendolin, M, Tuovila, O, Pakkanen, R, Maranville, J, Usiskin, K, Hochfeld, M, Plenge, R, Yang, R, Biswas, S, Greenberg, S, Laakkonen, E, Kononen, J, Paloneva, J, Kujala, U, Kuopio, T, Laukkanen, J, Kangasniemi, E, Savinainen, K, Laaksonen, R, Arvas, M, Ritari, J, Partanen, J, Hyvarinen, K, Wahlfors, T, Peterson, A, Oh, D, Chang, D, Teng, E, Strauss, E, Kerchner, G, Chen, H, Schutzman, J, Michon, J, Hunkapiller, J, McCarthy, M, Bowers, N, Lu, T, Bhangale, T, Pulford, D, Waterworth, D, Kulkarni, D, Xu, F, Betts, J, Gordillo, JE, Hoffman, J, Auro, K, McCarthy, L, Ghosh, S, Ehm, M, Pitkanen, K, Makela, T, Loukola, A, Joensuu, H, Sinisalo, J, Eklund, K, Aaltonen, L, Farkkila, M, Carpen, O, Kauppi, P, Tienari, P, Ollila, T, Tuomi, T, Meretoja, T, Pitkaranta, A, Turunen, J, Hannula-Jouppi, K, Pikkarainen, S, Seitsonen, S, Koskinen, M, Palomaki, A, Rinne, J, Metsarinne, K, Elenius, K, Pirila, L, Koulu, L, Voutilainen, M, Juonala, M, Peltonen, S, Aaltonen, V, Loboda, A, Podgornaia, A, Chhibber, A, Chu, A, Fox, C, Diogo, D, Holzinger, E, Eicher, J, Gormley, P, Mehta, V, Wang, X, Kettunen, J, Pylkas, K, Kalaoja, M, Karjalainen, M, Hinttala, R, Kaarteenaho, R, Vainio, S, Mantere, T, Remes, A, Huhtakangas, J, Junttila, J, Tasanen, K, Huilaja, L, Luodonpaa, M, Hautala, N, Karihtala, P, Kauppila, S, Harju, T, Blomster, T, Soininen, H, Harvima, I, Pihlajamaki, J, Kaarniranta, K, Pelkonen, M, Laakso, M, Hiltunen, M, Kiviniemi, M, Kaipiainen-Seppanen, O, Auvinen, P, Kalviainen, R, Julkunen, V, Malarstig, A, Hedman, A, Marshal, C, Whelan, C, Lehtonen, H, Parkkinen, J, Linden, K, Kalpala, K, Miller, M, Bing, N, McDonough, S, Chen, X, Hu, X, Wu, Y, Auranen, A, Jussila, A, Uusitalo-Jarvinen, H, Kankaanranta, H, Uusitalo, H, Peltola, J, Kahonen, M, Isomaki, P, Laitinen, T, Salmi, T, Muslin, A, Wang, C, Chatelain, C, Xu, E, Auge, F, Call, K, Klinger, K, Crohns, M, Gossel, M, Palin, K, Rivas, M, Siirtola, H, and Tabuenca, JG

Abstract

Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10-8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.

Published
2019

10. Comparison of the Behavioural Inattention Test and the Catherine Bergego Scale in assessment of hemispatial neglect.

Author

Luukkainen-Markkula R, Tarkka IM, Pitkanen K, Sivenius J, and Hamalainen H

Subjects
Adult, Aged, Female, Hemianopsia complications, Humans, Male, Middle Aged, Perceptual Disorders complications, Severity of Illness Index, Stroke complications, Hemianopsia diagnosis, Neuropsychological Tests, Perceptual Disorders diagnosis, Stroke psychology, Visual Field Tests methods
Abstract

The objective of the study was to correlate visual and behavioural assessments of hemispatial neglect caused by cerebrovascular accident. We assessed 17 consecutive right-hemisphere stroke patients with hemispatial neglect: the Catherine Bergego Scale (CBS) was used to evaluate neglect in spontaneous behaviour and the conventional subtests of the Behavioural Inattention Test (BIT C) were used to assess visual neglect. The proportional severity of both visual and behavioural neglect was calculated in each individual patient. Dissociations were found between mild neglect in visual screening tasks and moderate or severe neglect in behaviour, although in most patients, neglect was equally evident in both tests. Only the line bisection subtest from the BIT correlated significantly with the CBS, yet both tests showed good internal consistency. The line bisection test and several items of the CBS were especially sensitive in detecting the combination of visual field deficit and hemispatial neglect. In conclusion, we propose that visual fields should always be assessed in patients with neglect because neglect may be exacerbated by a visual field deficit and this can cause prolonged functional disability in everyday life situations. Specific rehabilitation methods might also be needed in neglect with or without hemianopia.

Published
2011
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11. Age and sex differentials in mortality during two nineteenth century population crises.

Author

Pitkanen KJ and Mielke JH

Subjects
Behavior, Conservation of Natural Resources, Demography, Developed Countries, Environment, Europe, Finland, Food Supply, Politics, Population, Population Characteristics, Population Dynamics, Scandinavian and Nordic Countries, Cause of Death, Mortality, Sex Factors, Social Behavior, Starvation, Warfare
Abstract

"The exceptionally detailed Finnish materials are used to examine age- and sex-specific mortality in different regions during the country's last famine, the Great Famine of the 1860s. This is compared with another mortality crisis, the 1808-09 War. The results show that in cases when multiple infectious diseases were responsible for elevated mortality, the increases for different age categories were, by and large, proportional to the levels prevailing during normal times. However, excess mortality showed more variability for children. Furthermore, age- and sex-specific social behaviour (specifically large-scale temporary migration) during the crisis period shaped the age patterns and sex differentials in mortality." (SUMMARY IN FRE), (excerpt)

Published
1993
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12. War demography: the impact of the 1808-09 war on the civilian population of Aland, Finland.

Author

Mielke JH and Pitkanen KJ

Subjects
Developed Countries, Europe, Finland, Politics, Population, Population Characteristics, Population Dynamics, Scandinavian and Nordic Countries, Age Factors, Demography, Fertility, Marriage, Mortality, Warfare
Abstract

"A pre-industrial population crisis caused by a war is examined using Finnish historical records. During the War of Finland (1808-09) the Swedish military deployed on the Aland Islands helped spread infectious diseases among the civilian population. The result was a short but intense period of high mortality. This article focuses on the short-term demographic impact of this crisis. Changes in age-specific and sex-specific mortality, fertility, and nuptiality are explored....A projection, assuming that the crisis did not occur, indicates that Aland's population losses were never compensated." (SUMMARY IN FRE), (excerpt)

Published
1990
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