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7. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Author

Natarajan, P. (Pradeep), Pampana, A. (Akhil), Graham, S. E. (Sarah E.), Ruotsalainen, S. E. (Sanni E.), Perry, J. A. (James A.), de Vries, P. S. (Paul S.), Broome, J. G. (Jai G.), Pirruccello, J. P. (James P.), Honigbere, M. C. (Michael C.), Aragam, K. (Krishna), Wolford, B. (Brooke), Brody, J. A. (Jennifer A.), Antonacci-Fulton, L. (Lucinda), Arden, M. (Moscati), Aslibekyan, S. (Stella), Assimes, T. L. (Themistocles L.), Ballantyne, C. M. (Christie M.), Bielak, L. F. (Lawrence F.), Bisl, J. C. (Joshua C.), Cade, B. E. (Brian E.), Do, R. (Ron), Doddapaneni, H. (Harsha), Emery, L. S. (Leslie S.), Hung, Y.-J. (Yi-Jen), Irvin, M. R. (Marguerite R.), Khan, A. T. (Alyna T.), Lange, L. (Leslie), Lee, J. (Jiwon), Lemaitre, R. N. (Rozenn N.), Martin, L. W. (Lisa W.), Metcalf, G. (Ginger), Montasser, M. E. (May E.), Moon, J.-Y. (Jee-Young), Muzny, D. (Donna), Connell, J. R. (Jeffrey R. O.), Palmer, N. D. (Nicholette D.), Peralta, J. M. (Juan M.), Peyser, P. A. (Patricia A.), Stilp, A. M. (Adrienne M.), Tsai, M. (Michael), Wang, F. F. (Fei Fei), Weeks, D. E. (Daniel E.), Yanek, L. R. (Lisa R.), Wilson, J. G. (James G.), Abecasis, G. (Goncalo), Arnett, D. K. (Donna K.), Becker, L. C. (Lewis C.), Blangercy, J. (John), Boerwinkle, E. (Eric), Bowden, D. W. (Donald W.), Chang, Y.-C. (Yi-Cheng), Chen, Y. I. (Yii-Der, I), Choi, W. J. (Won Jung), Correa, A. (Adolfo), Curran, J. E. (Joanne E.), Daly, M. J. (Mark J.), DutcherE, S. K. (Susan K.), Ellinor, P. T. (Patrick T.), Fornage, M. (Myriam), Freedman, B. I. (Barry, I), Gabriel, S. (Stacey), Germer, S. (Soren), Gibbs, R. A. (Richard A.), He, J. (Jiang), Hveem, K. (Kristian), Jarvik, G. P. (Gail P.), Kaplan, R. C. (Robert C.), Kardia, S. L. (Sharon L. R.), Kennyn, E. (Eimear), Kim, R. W. (Ryan W.), Kooperberg, C. (Charles), Laurie, C. C. (Cathy C.), Lee, S. (Seonwook), Lloyd-Jones, D. M. (Don M.), Loos, R. J. (Ruth J. F.), Lubitz, S. A. (Steven A.), Mathias, R. A. (Rasika A.), Martinez, K. A. (Karine A. Viaud), McGarvey, S. T. (Stephen T.), Mitche, B. D. (Braxton D.), Nickerson, D. A. (Deborah A.), North, K. E. (Kari E.), Palotie, A. (Aarno), Park, C. J. (Cheol Joo), Psat, B. M. (Bruce M. Y.), Rao, D. C. (D. C.), Redline, S. (Susan), Reiner, A. P. (Alexander P.), Seo, D. (Daekwan), Seo, J.-S. (Jeong-Sun), Smith, A. V. (Albert, V), Tracy, R. P. (Russell P.), Kathiresan, S. (Sekar), Cupples, L. A. (L. Adrienne), Rotten, J. I. (Jerome, I), Morrison, A. C. (Alanna C.), Rich, S. S. (Stephen S.), Ripatti, S. (Samuli), Wilier, C. (Cristen), Peloso, G. M. (Gina M.), Vasan, R. S. (Ramachandran S.), Abe, N. (Namiko), Albert, C. (Christine), Almasy, L. (Laura), Alonso, A. (Alvaro), Ament, S. (Seth), Anderson, P. (Peter), Applebaum-Bowden, D. (Deborah), Arking, D. (Dan), Ashley-Koch, A. (Allison), Auer, P. (Paul), Avramopoulos, D. (Dimitrios), Barnard, J. (John), Barnes, K. (Kathleen), Barr, R. G. (R. Graham), Barron-Casella, E. (Emily), Beaty, T. (Terri), Becker, D. (Diane), Beer, R. (Rebecca), Begum, F. (Ferdouse), Beitelshees, A. (Amber), Benjamin, E. (Emelia), Bezerra, M. (Marcos), Bielak, L. (Larry), Blackwel, T. (Thomas), Bowler, R. (Russell), Broecke, U. (Ulrich), Bunting, K. (Karen), Burchard, E. (Esteban), Buth, E. (Erin), Cardwel, J. (Jonathan), Carty, C. (Cara), Casaburi, R. (Richard), Casella, J. (James), Chaffin, M. (Mark), Chang, C. (Christy), Chasman, D. (Daniel), Chavan, S. (Sameer), Chen, B.-J. (Bo-Juen), Chen, W.-M. (Wei-Min), Chol, M. (Michael), Choi, S. H. (Seung Hoan), Chuang, L.-M. (Lee-Ming), Chung, M. (Mina), Conomos, M. P. (Matthew P.), Cornell, E. (Elaine), Crapo, J. (James), Curtis, J. (Jeffrey), Custer, B. (Brian), Damcott, C. (Coleen), Darbar, D. (Dawood), Das, S. (Sayantan), David, S. (Sean), Davis, C. (Colleen), Daya, M. (Michelle), de Andrade, M. (Mariza), DeBaunuo, M. (Michael), Duan, Q. (Qing), Devine, R. D. (Ranjan Deka Dawn DeMeo Scott), Duggirala, Q. R. (Qing Ravi), Durda, J. P. (Jon Peter), Dutcher, S. (Susan), Eaton, C. (Charles), Ekunwe, L. (Lynette), Farber, C. (Charles), Farnaml, L. (Leanna), Fingerlin, T. (Tasha), Flickinger, M. (Matthew), Franceschini, N. (Nora), Fu, M. (Mao), Fullerton, S. M. (Stephanie M.), Fulton, L. (Lucinda), Gan, W. (Weiniu), Gao, Y. (Yan), Gass, M. (Margery), Ge, B. (Bruce), Geng, X. P. (Xiaoqi Priscilla), Gignoux, C. (Chris), Gladwin, M. (Mark), Glahn, D. (David), Gogarten, S. (Stephanie), Gong, D.-W. (Da-Wei), Goring, H. (Harald), Gu, C. C. (C. Charles), Guan, Y. (Yue), Guo, X. (Xiuqing), Haessler, J. (Jeff), Hall, M. (Michael), Harris, D. (Daniel), Hawle, N. Y. (Nicola Y.), Heavner, B. (Ben), Heckbert, S. (Susan), Hernandez, R. (Ryan), Herrington, D. (David), Hersh, C. (Craig), Hidalgo, B. (Bertha), Hixson, J. (James), Hokanson, J. (John), Hong, E. (Elliott), Hoth, K. (Karin), Hsiung, C. A. (Chao Agnes), Huston, H. (Haley), Hwu, C. M. (Chii Min), Jackson, R. (Rebecca), Jain, D. (Deepti), Jaquish, C. (Cashell), Jhun, M. A. (Min A.), Johnsen, J. (Jill), Johnson, A. (Andrew), Johnson, C. (Craig), Johnston, R. (Rich), Jones, K. (Kimberly), Kang, H. M. (Hyun Min), Kaufman, L. (Laura), Kell, S. Y. (Shannon Y.), Kessler, M. (Michael), Kinney, G. (Greg), Konkle, B. (Barbara), Kramer, H. (Holly), Krauter, S. (Stephanie), Lange, C. (Christoph), Lange, E. (Ethan), Laurie, C. (Cecelia), LeBoff, M. (Meryl), Lee, S. S. (Seunggeun Shawn), Lee, W.-J. (Wen-Jane), LeFaive, J. (Jonathon), Levine, D. (David), Levy, D. (Dan), Lewis, J. (Joshua), Li, Y. (Yun), Lin, H. (Honghuang), Lin, K. H. (Keng Han), Lin, X. (Xihong), Liu, S. (Simin), Liu, Y. (Yongmei), Lunetta, K. (Kathryn), Luo, J. (James), Mahaney, M. (Michael), Make, B. (Barry), Manichaikul, A. (Ani), Mansonl, J. (JoAnn), Margolin, L. (Lauren), Mathai, S. (Susan), McArdle, P. (Patrick), Mcdonald, M.-L. (Merry-Lynn), McFarland, S. (Sean), McHugh, C. (Caitlin), Mei, H. (Hao), Meyers, D. A. (Deborah A.), Mikulla, J. (Julie), Min, N. (Nancy), Minear, M. (Mollie), Minster, R. L. (Ryan L.), Musani, S. (Solomon), Mwasongwe, S. (Stanford), Mychaleckyj, J. C. (Josyf C.), Nadkarni, G. (Girish), Naik, R. (Rakhi), Naseri, T. (Take), Nekhai, S. (Sergei), Nelson, S. C. (Sarah C.), Nickerson, D. (Deborah), Connell, J. O. (Jeff O.), Connor, T. O. (Tim O.), Ochs-Balcom, H. (Heather), Pankow, J. (James), Papanicolaou, G. (George), Parkerl, M. (Margaret), Parsa, A. (Afshin), Penchey, S. (Sara), Perez, M. (Marco), Peters, U. (Ulrike), Phillips, L. S. (Lawrence S.), Phillips, S. (Sam), Pollin, T. (Toni), Post, W. (Wendy), Becker, J. P. (Julia Powers), Boorgula, M. P. (Meher Preethi), Preuss, M. (Michael), Prokopenko, D. (Dmitry), Qasba, P. (Pankaj), Qiao, D. (Dandi), Rafaels, N. (Nicholas), Raffield, L. (Laura), Rasmussen-Torvik, L. (Laura), Ratan, A. (Aakrosh), Reed, R. (Robert), Reganl, E. (Elizabeth), Reupena, M. S. (Muagututi Sefuiva), Rice, K. (Ken), Roden, D. (Dan), Roselli, C. (Carolina), Ruczinski, I. (Ingo), Russel, P. (Pamela), Ruuska, S. (Sarah), Ryan, K. (Kathleen), Sabino, E. C. (Ester Cerdeira), Sakornsakolpatl, P. (Phuwanat), Salzberg, S. (Steven), Sandow, K. (Kevin), Sankaran, V. G. (Vijay G.), Scheller, C. (Christopher), Schmidt, E. (Ellen), Schwander, K. (Karen), Schwartz, D. (David), Sciurba, F. (Frank), Seidman, C. (Christine), Seidman, J. (Jonathan), Sheehan, V. (Vivien), Shetty, A. (Amol), Shetty, A. (Aniket), Sheu, W. H. (Wayne Hui-Heng), Shoemaker, M. B. (M. Benjamin), Silver, B. (Brian), Silvermanl, E. (Edwin), Smith, J. (Jennifer), Smith, J. (Josh), Smith, N. (Nicholas), Smith, T. (Tanja), Smoller, S. (Sylvia), Snively, B. (Beverly), Soferlm, T. (Tamar), Streeten, E. (Elizabeth), Su, J. L. (Jessica Lasky), Sung, Y. J. (Yun Ju), Sylvia, J. (Jody), Sztalryd, C. (Carole), Taliun, D. (Daniel), Tang, H. (Hua), Taub, M. (Margaret), Taylor, K. D. (Kent D.), Taylor, S. (Simeon), Telen, M. (Marilyn), Thornton, T. A. (Timothy A.), Tinker, L. (Lesley), Tirschwel, D. (David), Tiwari, H. (Hemant), Vaidya, D. (Dhananjay), VandeHaar, P. (Peter), Vrieze, S. (Scott), Walker, T. (Tarik), Wallace, R. (Robert), Waits, A. (Avram), Wan, E. (Emily), Wang, H. (Heming), Watson, K. (Karol), Weir, B. (Bruce), Weiss, S. (Scott), Weng, L.-C. (Lu-Chen), Williams, K. (Kayleen), Williams, L. K. (L. Keoki), Wilson, C. (Carla), Wong, Q. (Quenna), Xu, H. (Huichun), Yang, I. (Ivana), Yang, R. (Rongze), Zaghlou, N. (Norann), Zekavat, M. (Maryam), Zhang, Y. (Yingze), Zhao, S. X. (Snow Xueyan), Zhao, W. (Wei), Zni, D. (Degui), Zhou, X. (Xiang), Zhu, X. (Xiaofeng), Zody, M. (Michael), Zoellner, S. (Sebastian), Daly, M. (Mark), Jacob, H. (Howard), Matakidou, A. (Athena), Runz, H. (Heiko), John, S. (Sally), Plenge, R. (Robert), McCarthy, M. (Mark), Hunkapiller, J. (Julie), Ehm, M. (Meg), Waterworth, D. (Dawn), Fox, C. (Caroline), Malarstig, A. (Anders), Klinger, K. (Kathy), Call, K. (Kathy), Mkel, T. (Tomi), Kaprio, J. (Jaakko), Virolainen, P. (Petri), Pulkki, K. (Kari), Kilpi, T. (Terhi), Perola, M. (Markus), Partanen, J. (Jukka), Pitkranta, A. (Anne), Kaarteenaho, R. (Riitta), Vainio, S. (Seppo), Savinainen, K. (Kimmo), Kosma, V.-M. (Veli-Matti), Kujala, U. (Urho), Tuovila, O. (Outi), Hendolin, M. (Minna), Pakkanen, R. (Raimo), Waring, J. (Jeff), Riley-Gillis, B. (Bridget), Liu, J. (Jimmy), Biswas, S. (Shameek), Diogo, D. (Dorothee), Marshall, C. (Catherine), Hu, X. (Xinli), Gossel, M. (Matthias), Schleutker, J. (Johanna), Arvas, M. (Mikko), Hinttala, R. (Reetta), Kettunen, J. (Johannes), Laaksonen, R. (Reijo), Mannermaa, A. (Arto), Paloneva, J. (Juha), Soininen, H. (Hilkka), Julkunen, V. (Valtteri), Remes, A. (Anne), Klviinen, R. (Reetta), Hiltunen, M. (Mikko), Peltola, J. (Jukka), Tienari, P. (Pentti), Rinne, J. (Juha), Ziemann, A. (Adam), Waring, J. (Jeffrey), Esmaeeli, S. (Sahar), Smaoui, N. (Nizar), Lehtonen, A. (Anne), Eaton, S. (Susan), Landenper, S. (Sanni), Michon, J. (John), Kerchner, G. (Geoff), Bowers, N. (Natalie), Teng, E. (Edmond), Eicher, J. (John), Mehta, V. (Vinay), Gormle, P. Y. (Padhraig Y.), Linden, K. (Kari), Whelan, C. (Christopher), Xu, F. (Fanli), Pulford, D. (David), Frkkil, M. (Martti), Pikkarainen, S. (Sampsa), Jussila, A. (Airi), Blomster, T. (Timo), Kiviniemi, M. (Mikko), Voutilainen, M. (Markku), Georgantas, B. (Bob), Heap, G. (Graham), Rahimov, F. (Fedik), Usiskin, K. (Keith), Maranville, J. (Joseph), Lu, T. (Tim), Oh, D. (Danny), Kalpala, K. (Kirsi), Miller, M. (Melissa), McCarthy, L. (Linda), Eklund, K. (Kari), Palomki, A. (Antti), Isomki, P. (Pia), Piri, L. (Laura), Kaipiainen-Seppnen, O. (Oili), Lertratanaku, A. (Apinya), Bing, D. C. (David Close Marla Hochfeld Nan), Gordillo, J. E. (Jorge Esparza), Mars, N. (Nina), Laitinen, T. (Tarja), Pelkonen, M. (Margit), Kauppi, P. (Paula), Kankaanranta, H. (Hannu), Harju, T. (Terttu), Greenberg, S. (Steven), Chen, H. (Hubert), Betts, J. (Jo), Ghosh, S. (Soumitra), Salomaa, V. (Veikko), Niiranen, T. (Teemu), Juonala, M. (Markus), Metsrinne, K. (Kaj), Khnen, M. (Mika), Junttila, J. (Juhani), Laakso, M. (Markku), Pihlajamki, J. (Jussi), Sinisalo, J. (Juha), Taskinen, M.-R. (Marja-Riitta), Tuomi, T. (Tiinamaija), Laukkanen, J. (Jari), Challis, B. (Ben), Peterson, A. (Andrew), Chu, A. (Audrey), Parkkinen, J. (Jaakko), Muslin, A. (Anthony), Joensuu, H. (Heikki), Meretoja, T. (Tuomo), Aaltonen, L. (Lauri), Auranen, A. (Annika), Karihtala, P. (Peeter), Kauppila, S. (Saila), Auvinen, P. (Pivi), Elenius, K. (Klaus), Popovic, R. (Relja), Schutzman, J. (Jennifer), Loboda, A. (Andrey), Chhibber, A. (Aparna), Lehtonen, H. (Heli), McDonough, S. (Stefan), Crohns, M. (Marika), Kulkarni, D. (Diptee), Kaarniranta, K. (Kai), Turunen, J. (Joni), Ollila, T. (Terhi), Seitsonen, S. (Sanna), Uusitalo, H. (Hannu), Aaltonen, V. (Vesa), Uusitalo-Jrvinen, H. (Hannele), Luodonp, M. (Marja), Hautala, N. (Nina), Strauss, E. (Erich), Chen, H. (Hao), Podgornaia, A. (Anna), Hoffman, J. (Joshua), Tasanen, K. (Kaisa), Huilaja, L. (Laura), Hannula-Jouppi, K. (Katariina), Salmi, T. (Teea), Peltonen, S. (Sirkku), Koulu, L. (Leena), Harvima, I. (Ilkka), Wu, Y. (Ying), Choy, D. (David), Jalanko, A. (Anu), Kajanne, R. (Risto), Lyhs, U. (Ulrike), Kaunisto, M. (Mari), Davis, J. W. (Justin Wade), Quarless, D. (Danjuma), Petrovski, S. (Slav), Chen, C.-Y. (Chia-Yen), Bronson, P. (Paola), Yang, R. (Robert), Chang, D. (Diana), Bhangale, T. (Tushar), Holzinger, E. (Emily), Wang, X. (Xulong), Chen, X. (Xing), Auro, K. (Kirsi), Wang, C. (Clarence), Xu, E. (Ethan), Auge, F. (Franck), Chatelain, C. (Clement), Kurki, M. (Mitja), Karjalainen, J. (Juha), Havulinna, A. (Aki), Palin, K. (Kimmo), Palta, P. (Priit), Parolo, P. D. (Pietro Della Briotta), Zhou, W. (Wei), Lemmel, S. (Susanna), Rivas, M. (Manuel), Harju, J. (Jarmo), Lehisto, A. (Arto), Ganna, A. (Andrea), Llorens, V. (Vincent), Karlsson, A. (Antti), Kristiansson, K. (Kati), Hyvrinen, K. (Kati), Ritari, J. (Jarmo), Wahlfors, T. (Tiina), Koskinen, M. (Miika), Pylkäs, K. (Katri), Kalaoja, M. (Marita), Karjalainen, M. (Minna), Mantere, T. (Tuomo), Kangasniemi, E. (Eeva), Heikkinen, S. (Sami), Laakkonen, E. (Eija), Kononen, J. (Juha), Loukola, A. (Anu), Laiho, P. (Pivi), Sistonen, T. (Tuuli), Kaiharju, E. (Essi), Laukkanen, M. (Markku), Jrvensivu, E. (Elina), Lhteenmki, S. (Sini), Mnnikk, L. (Lotta), Wong, R. (Regis), Mattsson, H. (Hannele), Hiekkalinna, T. (Tero), Jimnez, M. G. (Manuel Gonzlez), Donner, K. (Kati), Prn, K. (KaIle), Nunez-Fontarnau, J. (Javier), Kilpelinen, E. (Elina), Sipi, T. P. (Timo P.), Brein, G. (Georg), Dada, A. (Alexander), Awaisa, G. (Ghazal), Shcherban, A. (Anastasia), Sipil, T. (Tuomas), Laivuori, H. (Hannele), Kiiskinen, T. (Tuomo), Siirtola, H. (Harri), Tabuenca, J. G. (Javier Gracia), Kallio, L. (Lila), Soini, S. (Sirpa), Pitknen, K. (Kimmo), and Kuopio, T. (Teijo)

Subjects
Cardiovascular genetics, Genome-wide association studies
Abstract

Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid data in a high-coverage whole X chromosome sequencing study of 65,322 multi-ancestry participants and perform replication among 456,893 European participants. Common alleles on chromosome Xq23 are strongly associated with reduced total cholesterol, LDL cholesterol, and triglycerides (min P = 8.5 × 10−72), with similar effects for males and females. Chromosome Xq23 lipid-lowering alleles are associated with reduced odds for CHD among 42,545 cases and 591,247 controls (P = 1.7 × 10−4), and reduced odds for diabetes mellitus type 2 among 54,095 cases and 573,885 controls (P = 1.4 × 10−5). Although we observe an association with increased BMI, waist-to-hip ratio adjusted for BMI is reduced, bioimpedance analyses indicate increased gluteofemoral fat, and abdominal MRI analyses indicate reduced visceral adiposity. Co-localization analyses strongly correlate increased CHRDL1 gene expression, particularly in adipose tissue, with reduced concentrations of blood lipids.

Published
2021

9. Impact of Borderline Resectability in Pancreatic Head Cancer on Patient Survival: Biology Matters According to the New International Consensus Criteria

Author

Anger, F. (Friedrich), Döring, A. (Anna), van Dam, J. (Jacob), Lock, J.F. (Johan Friso), Klein, I. (Ingo), Bittrich, M. (Max), Germer, S. (Silke), Wiegering, A. (Armin), Kunzmann, V. (Volker), Eijck, C.H.J. (Casper) van, Löb, S. (Stefan), Anger, F. (Friedrich), Döring, A. (Anna), van Dam, J. (Jacob), Lock, J.F. (Johan Friso), Klein, I. (Ingo), Bittrich, M. (Max), Germer, S. (Silke), Wiegering, A. (Armin), Kunzmann, V. (Volker), Eijck, C.H.J. (Casper) van, and Löb, S. (Stefan)

Abstract

Background: International consensus criteria (ICC) have redefined borderline resectability for pancreatic ductal adenocarcinoma (PDAC) according to three dimensions: anatomical (BR-A), biological (BR-B), and conditional (BR-C). The present definition acknowledges that resectability is not just about the anatomic relationship between the tumour and vessels but that biological and conditional dimensions also are important. Methods: Patients’ tumours were retrospectively defined bo

Published
2020
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11. High-fluence Ga-implanted silicon—The effect of annealing and cover layers.

Author

Fiedler, J., Heera, V., Hübner, R., Voelskow, M., Germer, S., Schmidt, B., and Skorupa, W.

Subjects
ANNEALING of semiconductors, MICROSTRUCTURE, SILICON, POLYCRYSTALLINE semiconductors, SUPERLATTICES
Abstract

The influence of SiO2 and SiNx cover layers on the dopant distribution as well as microstructure of high fluence Ga implanted Si after thermal processing is investigated. The annealing temperature determines the layer microstructure and the cover layers influence the obtained Ga profile. Rapid thermal annealing at temperatures up to 750°C leads to a polycrystalline layer structure containing amorphous Ga-rich precipitates. Already after a short 20?ms flash lamp annealing, a Ga-rich interface layer is observed for implantation through the cover layers. This effect can partly be suppressed by annealing temperatures of at least 900°C. However, in this case, Ga accumulates in larger, cone-like precipitates without disturbing the surrounding Si lattice parameters. Such a Ga-rich crystalline Si phase does not exist in the equilibrium phase diagram according to which the Ga solubility in Si is less than 0.1 at. %. The Ga-rich areas are capped with SiOx grown during annealing which only can be avoided by the usage of SiNx cover layers. [ABSTRACT FROM AUTHOR]

Published
2014
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12. Recommendations for Management of Large Scale Storage of Wood Prunings to Avoid Quality Changes

Author

López, E., Jirjis, R., Anerud, E., Kern, J., Idler, C., Sebastián, F., and Germer, S.

Subjects
Biomass
Abstract

Permanent crop prunings are recognised as a potential source of biomass in Europe with a reduced degree of exploitation. EuroPruning project aims to provide technical solutions to make pruning products a reality in the solid biofuel market. The project tackles the variations of the quality along the whole supply chain. To provide guidelines to stakeholders willing to create logistic chains on prunings, the EuroPruning study has assessed quality changes of pruning residues during storage since it is the stage in which the quality is likely to suffer the highest degradation. Outdoor storage tests have been carried out during 6 months in three different European areas (representing three climate conditions) of high density of permanent crops. Experimental large scale chip piles and bale stacks have been built for that purpose from different species and net energy variation after storage has been assessed. Risks of auto-combustion and occupational health hazards linked to inhalation of air-borne spores released during material handling have also been part of the investigation. The results showed a positive energy variation in the material stored in the bale stacks contrary to most of the tests made with comminuted material. Some general recommendations to improve storage of prunings are also presented in this paper., Proceedings of the 24th European Biomass Conference and Exhibition, 6-9 June 2016, Amsterdam, The Netherlands, pp. 580-586

Published
2016
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13. Pruning Residues: Energy Production or Mulching? Environmental Impacts of Almond Pruning Residues Use

Author

Jan den Boer, Gómez, M., Sebastián, F., García-Galindo, D., Dyjakon, A., Bukowski, P., Den Boer, E., Germer, S., and Bischoff, W. -A

Subjects
Biomass
Abstract

Agricultural residues (pruning residues) coming from permanent plantations and orchards constitute a significant and largely unused potential for renewable energy. The EuroPruning project aims to turn pruning residues into a valuable fuel source by developing solutions for their harvesting, transportation and storage that will contribute to increase the share of renewable sources in the total energy supply. To determine the environmental consequences of the Pruning-to-Energy (PtE) logistics chain, a Life Cycle Assessment study has been conducted. In this study the newly developed PtE scenarios are compared to a reference scenario: mulching and consequently leaving the pruning residues on the fields. Both alternatives have advantages and drawbacks from an environmental point view. However preliminary results for the PtE scenario for almond pruning residues show, that the environmental burdens are significantly lower than in case of leaving the pruning residues on the field., Proceedings of the 24th European Biomass Conference and Exhibition, 6-9 June 2016, Amsterdam, The Netherlands, pp. 1485-1489

Published
2016
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16. Correlation between efficiency and stability in Er- and Si-implanted MOS light emitting devices

Author

Rebohle, L., Wutzler, R., Germer, S., Helm, M., Skorupa, W., Berencén, Y., Garrido, B., and Hiller, D.

Subjects
Hardware_INTEGRATEDCIRCUITS, MOS devices, Si-rich SiO2, electroluminescence, Erbium
Abstract

Er-based light emitters, which can be electrically driven and easily integrated into Si-based circuitries, are of great interest for a broad palette of applications, especially in the field of telecommunication and sensing. Among the different approaches Er-implanted MOS devices feature their excellent compatibility to standard CMOS processes and the reproducibility of the implantation process. However, at present such devices do achieve neither the efficiency nor the operation lifetime usually required for such applications. In this study we compare various designs of Er-implanted MOS devices with respect to their electroluminescence efficiency and electrical operation lifetime. The different designs comprise devices implanted with Er alone or co-implanted with Si and Er, various single and multilayer systems and different host matrices for Er, namely SiO2 or Si-rich Si3N4. Despite the different design parameters, a strong correlation between efficiency and operation lifetime is found. This behavior is explained by the ambivalent role of hot electrons which play a key role both for the efficient excitation of erbium and for the oxide degradation.

Published
2013

17. Si-based light emitter in an integrated photonic circuit for smart biosensor applications

Author

Germer, S., Rebohle, L., Skorupa, W., and Helm, M.

Subjects
Si-based light emission, Physics::Optics, dielectric waveguide, biosensor, integrated photonic circuit
Abstract

Integrated optics concerns mainly the generation, guiding, and detection of light. Especially bio sensing needs systems that incorporate electronic and photonic devices for the detection of harmful substances, like synthetic estrogens or plasticizers. We present recent developments in the integration of Si-based light emitters into a photonic circuit for a planar optical waveguide-based bio detection system. The growing demand for sensitive biochemical sensors in the environmental control, medicine or process technology results in the development of integrated sensors, which should show a high resolution over a wide concentration regime. In our first approach we deal with the integration of a Si-based light emitting device (LED) into a photonic circuit for the detection of harmful biological substances. Light injection into a waveguide is commonly obtained by using an external source coupled to the waveguide, e.g. an optical fiber via total internal reflection. For simplifying this injection process, we built Si-based LEDs consisting of a metal-oxide-semiconductor (MOS) structure, in which the oxide film contains group-IV and/or rare earth elements, incorporated by ion-beam synthesis [1, 2]. The Si-based LED exhibits strong electroluminescence, tunable from the visible up to the UV region depending on the rare-earth element (e.g. Gd, Tb, Eu, Nd, Er). Currently, the Si-based LEDs are already available and best efficiencies were achieved by Tb or Er implantation with an external quantum and power efficiency of 16% and 0.3%. LOCOS (local oxidation of silicon) processing and an additional layer of SiON were applied to the device to improve the electrical stability and operation time. Our concept bases upon a Si-based photonic circuit which consists of the integrated LED, working as the light source, a newly fabricated dielectric strip-waveguide below a bioactive layer and a receiver. The dielectric strip-waveguide has a Si3N4 or SiON core, in which the light should be guided, and a cladding of SiO2. The receiver should be a photodiode (e.g. Ge, Si). In this work, we focus on the development and characterization of the dielectric waveguides. For theoretical pre-analysis we are using the finite element method by the FlexPDE software for calculating the mode profiles and resonance frequencies according to the cross sections of the structures. The fabrication of the waveguides was done by plasma enhanced chemical vapor deposition (PECVD), photolithography and electron beam lithography. Obtained SEM results enabled an improvement of the fabrication recipe of the waveguides by using an additional Al-masking during the reactive ion etching (RIE). Furthermore, a new measurement setup is built up, which enables transmission measurements and the inspection of the beam profiles as well as the damping factors of the structures in dependence on their cross sections. In future, the theoretical calculations are going to be compared with the experimental results of transmission and beam profiling measurements. Moreover, the Si-based LED should be coupled with the waveguide e.g. by Bragg grating. Finally, this lab-on-a-chip system is showing a high potential to become an all-round applicable integrated sensor system, without using any external light sources or relay lenses, which is why it should be easily portable and customizale.

Published
2013

18. Basic structures of integrated photonic circuits for smart biosensor applications

Author

Germer, S., Rebohle, L., Skorupa, W., and Helm, M.

Subjects
photonic crystals, Physics::Optics, silanization, waveguide, biosensor, organosilane
Abstract

Integrated optics concerns mainly the generation, guiding, and detection of light. Especially biosensing needs systems that incorporate electrical, electronic, and photonic devices for the detection of harmful substances, like synthetic oestrogens or plasticizers. We present here recent developments in the integration of our Si-based light emitter into a photonic circuit for a planar optical waveguide-based biodetection system.

Published
2013

19. Nd-implanted MOS light emitting devices for smart biosensor applications

Author

Rebohle, L., Wutzler, R., Germer, S., Lehmann, J., Helm, M., and Skorupa, W.

Subjects
Neodymium, Electroluminescence, Rare Earth, Optoelectronic Device, Si-based light emission, Erbium
Abstract

Electrically driven, Si-based light emitters are of great interest for integrated photonic applications, especially for smart biosensors. Among the possible candidates Nd-implanted MOS devices are of special interest because of the emission wavelength of 900 nm of Nd3+ which have the potential to integrate a complete SPR (surface plasmon resonance) measurement in one chip. In this study we explore the influence of the Nd-concentration and the annealing parameters on the electrical and optoelectronic properties. The focus is on the electroluminescence and the electrical properties of the devices which will be compared to those of Er-implanted devices.

Published
2012

20. Seespiegelschwankungen in Nordost-Deutschland : Beobachtung und Rekonstruktion

Author

Kaiser, K., Germer, S., Küster, M., Lorenz, S., Stüve, P., and Bens, O.

Abstract

Currently, central Europe undergoes distinct changes in regional water balances. In northeast Germany a drying trend prevails, resulting in decreasing water quantities. If this trend continues, a negative influence on ecosystem services, such as the provision of water for human use and wetland conservation, is to be feared. Lake-level records of both short-term (last decades) and longterm perspective (last millennia) offer important hydrological information as they document changes in the local to regional water budget, depending from climatic and human impact. Research on lake hydrology can help to optimise management strategies for rebalancing the landscape water budget. Lake levels in northeast Germany have decreased or intensively fluctuated over the last decades. Examples for the hydrological development of some lakes in the Mecklenburg Lake District are given, showing highly variable local records with some conformity. From a palaeohydrological point of view, until the late Mediaeval regional lake hydrology was predominantly driven by climatic, geomorphic and non-anthropogenic biotic factors. Since the late Mediaeval, human activities have strongly influenced the drainage pattern and the lake water cycle, for instance, by damming of lakes, construction of canals and land cover changes in the lake catchments.

Published
2012
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21. Aktuelle hydrologische Veränderungen von Seen in Nordostdeutschland: Wasserspiegeltrends, ökologische Konsequenzen, Handlungsmöglichkeiten

Author

Kaiser, K., Friedrich, J., Oldorff, S., Germer, S., Mauersberger, R., Natkhin, M., Hupfer, M., Pingel, P., Schönfelder, J., Spicher, V., Stüve, P., Vedder, F., Bens, O., Mietz, O., Hüttl, R., and CGR Centre for Geoecological Research, Geoengineering Centres, GFZ Publication Database, Deutsches GeoForschungsZentrum

Subjects
550 - Earth sciences
Published
2012

22. Investigation of rare earth implanted SiO2 thin films for Down-conversion applications in Photovoltaic's

Author

Germer, S., Günz, C., Lehmann, J., Rebohle, L., Helm, M., and Skorupa, W.

Subjects
photovoltaic, down-conversion, integumentary system, digestive, oral, and skin physiology, solar cells, rare earth atoms
Abstract

In this report we present our recent investigations of rare earth (Ce, Tb) implanted SiO2 thin films for Down-conversion (DC) as an application for solar cells. Photovoltaic modules (PV) are showing high losses in the ultra violet range of the incident sunlight, because of band gap losses and front layer absorption. DC layers are applied to the front surface of photovoltaic cells to enhance solar cell efficiency

Published
2011

23. Basic structures of photonic integrated circuits for smart biosensor applications

Author

Germer, S., Rebohle, L., Skorupa, W., and Helm, M.

Subjects
photonic crystals, silanization, waveguide, biosensor, organosilane
Abstract

In this report we present our recent developments for utilizing the Si-based light emitter consisting of a MOS structure for the detection of organic pollutants. In the latest approach the light emitters are intended to serve as light sources in smart biosensors [1, 2]. In fluid media the device is placed beneath the dye-labeled sample exciting the dye. This light emission can be recorded by an external detector. It was shown that the silanization of the device surface was successfully based on the covalent binding of the organosilane [3]. The harmlessness of the silanization method to the integrated light emitters was proved by comparing the electroluminescence spectra of Tb-based MOSLEDs before and after silanization. We further showed that the transparency is maintained. Similarly, the human estrogen receptor hERα could be immobilized effectively on the coated surface [3]. We also discuss our concept of an integrated light emitter and a receiver in a dielectric waveguide structure below the bioactive layer for the detection of harmful substances, like synthetic estrogens or plasticizer in drinking water. Optical properties of waveguides, e.g. the transmission, are very sensitive to changes of the effective refraction index, which might be induced by the immobilization of biomolecules on the waveguide surface or in cavity structures, e.g. photonic crystals. This lab-on-a-chip system provides fast light transmission without using of any additional lenses and achieves further portability and miniaturization. [1] L. Rebohle, C. Cherkouk, S. Prucnal, M. Helm, W. Skorupa, Vacuum 83, 24 (2009) [2] L. Rebohle, T. Gebel, R.A. Yankov, T. Trautmann, W. Skorupa, J. Sun, G. Gauglitz, R. Frank, Optical Materials 27, 1055 (2005) [3] C. Cherkouk, L. Rebohle, W. Skorupa, T. Strache, H. Reuther and M. Helm, Journal of Colloid and Interface Science 337, 375 (2009)

Published
2011

24. Gas phase silanization at normal pressure of Si-based integrated light emitters for smart biosensor applications

Author

Germer, S., Cherkouk, C., Rebohle, L., Helm, M., and Skorupa, W.

Subjects
APTMS, amines, silanization, Si-based light emitter, biosensor
Abstract

A different silanization method for SiO2 surfaces has been raised for Si-based light emitter which are considered as light sources in sensors for the detection of harmful biomolecules. This approach uses a special experimental setup for gas phase silanization (GPS) and is based on the evaporation and deposition in nitrogen atmosphere at normal pressure for 15 minutes with different silane volumes. The light emitter has a SiO2 passivation layer on the top which was hydrolyzed in an in situ hybridization chamber and catalyzed with MES (2-(N-morpholino)ethanaesulfone acid hydrate) buffer solution. Afterward, the substrates were silanized with the GPS method using the organosilane (3-Aminopropyl)trimethoxysilane (APTMS). Infrared spectroscopy, X-ray spectroscopy and Atomic force microscopy were used to control and characterize the structure of the SiO2 surface and the APTMS layer. The results demonstrate a successful covalent binding of the coupling agent and the interaction of the deposited molecules with each other. The roughness of the modified surface was investigated by the Atomic force microscopy. The silanized samples show rough and textured surfaces. At last, the suitability of the developed GPS method was verified on light emitters.

Published
2010

25. Si-based integrated photonic circuits: first approach

Author

Germer, S., Rebohle, L., Helm, M., Skorupa, W., Germer, S., Rebohle, L., Helm, M., and Skorupa, W.

Abstract

In this report we present our recent developments for utilizing the Si-based light emitter consisting of a MOS structure for the detection of organic pollutants. In the latest approach the light emitters are intended to serve as light sources in smart biosensors [1,2]. Now we discuss our concept of an integrated light emitter and a receiver in a dielectric waveguide structure below the bioactive layer for the detection of harmful substances, like synthetic estrogens or plasticizer in drinking water. Optical properties of waveguides, e.g. the transmission, are very sensitive to changes of the effective refraction index, which might be induced by the immobilization of biomolecules on the waveguide surface or in cavity structures, e.g. photonic crystals. The guiding of the light depends on the geometry and material composition of the waveguide. First waveguides were fabricated through plasma enhanced chemical vapor deposition (PECVD) and optical photolithography with following etching steps. Afterwards the layer thicknesses were analyzed by ellipsometry and the surface roughness via scanning electron microscopy (SEM). However, the investigation of the different waveguides will be allowed through finite element method (FEM) simulations (COMSOL) and experimentally through a setup for the optical transmission measurement. In summary, this lab-on-a-chip system provides fast light transmission without using of any additional lenses and achieves further portability and miniaturization. [1] L. Rebohle, C. Cherkouk, S. Prucnal, M. Helm, W. Skorupa, Vacuum 83, 24 (2009) [2] L. Rebohle, T. Gebel, R.A. Yankov, T. Trautmann, W. Skorupa, J. Sun, G. Gauglitz, R. Frank, Optical Materials 27, 1055 (2005)

Published
2013

26. Basic structures of integrated photonic circuits for smart biosensor applications

Author

Germer, S., Rebohle, L., Skorupa, W., Helm, M., Germer, S., Rebohle, L., Skorupa, W., and Helm, M.

Abstract

Integrated optics concerns mainly the generation, guiding, and detection of light. Especially biosensing needs systems that incorporate electrical, electronic, and photonic devices for the detection of harmful substances, like synthetic oestrogens or plasticizers. We present here recent developments in the integration of our Si-based light emitter into a photonic circuit for a planar optical waveguide-based biodetection system.

Published
2012

27. Er- and Nd-implanted MOS light emitting devices and their use for integrated photonic applications

Author

Rebohle, L., Wutzler, R., Germer, S., Lehmann, J., Helm, M., Skorupa, W., Rebohle, L., Wutzler, R., Germer, S., Lehmann, J., Helm, M., and Skorupa, W.

Abstract

In the past, the suitability of Er for Si-based light emission was already investigated in detail. However, much less attention has been paid to Nd with its main electroluminescence (EL) line around 900 nm. In this study we compare the electrical and EL properties of Er- and Nd-implanted metal-oxide-semiconductor (MOS) structures where the dielectric stack is composed of the implanted SiO2 layer and a SiON buffer layer. Regarding the EL, the EL spectrum, the EL decay time and the EL efficiency were measured. The electrical characterization comprises current-voltage and capacitance-voltage measurements. Although the EL efficiency of Nd-implanted devices is by a factor of 5 to 10 lower than that of Er-based, the emission wavelength of Nd has some advantages compared to that of Er. Finally, based on these results the suitability of these two types of light emitters for integrated photonic devices is discussed.

Published
2012

28. Lumineszenz von Seltenen Erden in SiO2

Author

Rebohle, L., Prucnal, S., Lehmann, J., Germer, S., Skorupa, W., Rebohle, L., Prucnal, S., Lehmann, J., Germer, S., and Skorupa, W.

Abstract

Seltenerdbasierte MOS Emitter zeigen bei elektrischer Anregung die für Seltene Erden typischen Lumineszenzspektren. Die Anregung erfolgt über Stoßanregung heißer Elektronen, die aber gleichzeitig zu einer Degradation des Oxides führt. Die für die Elektronen erforderliche Beschleunigungsstrecke in der Größenordnung von 10-20 nm begrenzt die Dicken- und Spannungsskalierung nach unten. Mögliche Strategien zur Optimierung von Effizienz und Betriebslebensdauer beinhalten u.a. die Verwendung von Sensitizern zur Erhöhung des Anregungsquerschnittes bzw. das Einfügen einer SiON-Pufferschicht. Anwendungsmöglichkeiten liegen in der Sensorik mittels integrierter, optoelektronischer Chips.

Published
2012

29. Si-based integrated photonic circuits: first approach

Author

Germer, S., Rebohle, L., Helm, M., Skorupa, W., Germer, S., Rebohle, L., Helm, M., and Skorupa, W.

Abstract

In this report we present our recent developments for utilizing the Si-based light emitter consisting of a MOS structure for the detection of organic pollutants. In the latest approach the light emitters are intended to serve as light sources in smart biosensors [1,2]. Now we discuss our concept of an integrated light emitter and a receiver in a dielectric waveguide structure below the bioactive layer for the detection of harmful substances, like synthetic estrogens or plasticizer in drinking water. Optical properties of waveguides, e.g. the transmission, are very sensitive to changes of the effective refraction index, which might be induced by the immobilization of biomolecules on the waveguide surface or in cavity structures, e.g. photonic crystals. The guiding of the light depends on the geometry and material composition of the waveguide. First waveguides were fabricated through plasma enhanced chemical vapor deposition (PECVD) and optical photolithography with following etching steps. Afterwards the layer thicknesses were analyzed by ellipsometry and the surface roughness via scanning electron microscopy (SEM). However, the investigation of the different waveguides will be allowed through finite element method (FEM) simulations (COMSOL) and experimentally through a setup for the optical transmission measurement. In summary, this lab-on-a-chip system provides fast light transmission without using of any additional lenses and achieves further portability and miniaturization. [1] L. Rebohle, C. Cherkouk, S. Prucnal, M. Helm, W. Skorupa, Vacuum 83, 24 (2009) [2] L. Rebohle, T. Gebel, R.A. Yankov, T. Trautmann, W. Skorupa, J. Sun, G. Gauglitz, R. Frank, Optical Materials 27, 1055 (2005)

Published
2012

30. Si-based light emitters in integrated photonic circuits for smart biosensor applications

Author

Germer, S., Rebohle, L., Helm, M., Skorupa, W., Germer, S., Rebohle, L., Helm, M., and Skorupa, W.

Abstract

In this report we present our recent developments for utilizing the Si-based light emitter consisting of a MOS structure for the detection of organic pollutants. In the latest approach the light emitters are intended to serve as light sources in smart biosensors [1, 2]. Now we discuss our concept of an integrated light emitter and a receiver in a dielectric waveguide structure below the bioactive layer for the detection of harmful substances, like synthetic estrogens or plasticizer in drinking water. Optical properties of waveguides, e.g. the transmission, are very sensitive to changes of the effective refraction index, which might be induced by the immobilization of biomolecules on the waveguide surface or in cavity structures, e.g. photonic crystals. The guiding of the light depends on the geometry and material composition of the waveguide. First waveguides were fabricated through plasma enhanced chemical vapor deposition (PECVD) and optical photolithography with following etching steps. Afterwards the layer thicknesses were analyzed by ellipsometry and the surface roughness via scanning electron microscopy (SEM). However, the investigation of the different waveguides will be allowed through finite element method (FEM) simulations (COMSOL) and experimentally through a setup for the optical transmission measurement. In summary, this lab-on-a-chip system provides fast light transmission without using of any additional lenses and achieves further portability and miniaturization.

Published
2012

31. Si-based integrated photonic circuits: first approach

Author

Germer, S., Rebohle, L., Helm, M., Skorupa, W., Germer, S., Rebohle, L., Helm, M., and Skorupa, W.

Abstract

In this report we present our recent developments for utilizing the Si-based light emitter consisting of a MOS structure for the detection of organic pollutants. In the latest approach the light emitters are intended to serve as light sources in smart biosensors [1,2]. Now we discuss our concept of an integrated light emitter and a receiver in a dielectric waveguide structure below the bioactive layer for the detection of harmful substances, like synthetic estrogens or plasticizer in drinking water. Optical properties of waveguides, e.g. the transmission, are very sensitive to changes of the effective refraction index, which might be induced by the immobilization of biomolecules on the waveguide surface or in cavity structures, e.g. photonic crystals. The guiding of the light depends on the geometry and material composition of the waveguide. First waveguides were fabricated through plasma enhanced chemical vapor deposition (PECVD) and optical photolithography with following etching steps. Afterwards the layer thicknesses were analyzed by ellipsometry and the surface roughness via scanning electron microscopy (SEM). However, the investigation of the different waveguides will be allowed through finite element method (FEM) simulations (COMSOL) and experimentally through a setup for the optical transmission measurement. In summary, this lab-on-a-chip system provides fast light transmission without using of any additional lenses and achieves further portability and miniaturization. [1] L. Rebohle, C. Cherkouk, S. Prucnal, M. Helm, W. Skorupa, Vacuum 83, 24 (2009) [2] L. Rebohle, T. Gebel, R.A. Yankov, T. Trautmann, W. Skorupa, J. Sun, G. Gauglitz, R. Frank, Optical Materials 27, 1055 (2005)

Published
2011

37. Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis

Author

Wang, J, primary, Bansal, A T, additional, Martin, M, additional, Germer, S, additional, Benayed, R, additional, Essioux, L, additional, Lee, J S, additional, Begovich, A, additional, Hemmings, A, additional, Kenwright, A, additional, Taylor, K E, additional, Upmanyu, R, additional, Cutler, P, additional, Harari, O, additional, Marchini, J, additional, Criswell, L A, additional, and Platt, Adam, additional

Published
2012
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39. 1323 THE EFFECT OF HOST IL28B GENOTYPE ON EARLY VIRAL KINETICS DURING INTERFERON-FREE TREATMENT IN PATIENTS WITH CHRONIC HEPATITIS C (CHC)

Author

Chu, T., primary, Kulkarni, R., additional, Gane, E.J., additional, Roberts, S.K., additional, Stedman, C., additional, Angus, P., additional, Ritchie, B., additional, Lu, X.Y., additional, Ipe, D., additional, Lopatin, U., additional, Germer, S., additional, Iglesias, V., additional, Elston, R., additional, Berrey, M.M., additional, Smith, P.F., additional, and Shulman, N.S., additional

Published
2011
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40. 1180 A CHROMOSOME 19 SNP (RS12979860) PREDICTS OUTCOME (EVR/SVR) IN HCV PATIENTS TREATED WITH INTERFERON, INDEPENDENT OF PEGYLATION OR RIBAVIRIN

Author

Asselah, T., primary, Essioux, L., additional, Marcellin, P., additional, Fried, M.W., additional, Jensen, D.M., additional, Germer, S., additional, Benayed, R., additional, Chu, T., additional, Tietz, A., additional, Chin, D., additional, Shulman, N., additional, Thommes, J.A., additional, Laughlin, M., additional, and Lopatin, U., additional

Published
2010
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46. Gene variation of the transient receptor potential cation channel, subfamily M, members 6 (TRPM6) and 7 (TRPM7), and type 2 diabetes mellitus: a case-control study.

Author

Romero JR, Castonguay AJ, Barton NS, Germer S, Martin M, Zee RY, Romero, José R, Castonguay, Amy J, Barton, Nathaniel S, Germer, Soren, Martin, Mitchell, and Zee, Robert Y L

Abstract

Transient receptor potential cation channel, subfamily M, members 6 (TRPM6) and 7 (TRPM7), have been implicated in inflammatory disorders including diabetes, a major source of morbidity and mortality in developing and Western society. We hypothesized that gene variation of TRPM6 and TRPM7 may play a role in type 2 diabetes mellitus (T2DM) Using a case-control population sample of the Boston metropolitan area (all whites, 455 controls and 467 cases), we assessed the relationship of 29 TRPM6 and 11 TRPM7 tag-single nucleotide polymorphisms (SNPs) with (1) several diabetes-related intermediate phenotypes (fasting insulin levels, fasting glucose levels, hemoglobin A1c, and homeostatic model assessment) and (2) the presence of T2DM. All SNPs examined were in Hardy-Weinberg equilibrium. Overall, genotype distributions were similar between cases and controls. Linear regression analysis, adjusted for potential risk factors/confounders, showed no evidence of an association of any SNPs tested with the aforementioned diabetes-related intermediate phenotypes after correcting for multiple testing. Marker-by-marker multivariable logistic regression analysis showed no evidence of an association of any SNPs tested with the presence of T2DM after correcting for multiple testing. Continued investigation using an entropy-blocker-defined haplotype-based approach showed similar null findings. If corroboration occurs in future large prospective investigations, then the present investigation further suggests that TRPM6 and TRPM7 gene variation may not be useful predictors for T2DM risk assessment. [ABSTRACT FROM AUTHOR]

Published
2010
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49. Hyponatraemia associated with pneumonia or bacterial meningitis.

Author

SHANN, F. and GERMER, S.

Abstract

Serum sodium concentrations were measured in 93 children with pneumonia or bacterial meningitis on their admission to hospital. Hyponatraemia (sodium value 134 mmol/l or less) was present in 33 (45%) of the 73 children with pneumonia, and in 10 (50%) of the 20 children with bacterial meningitis. Increased secretion of antidiuretic hormone is common in children with pneumonia, as well as in children with meningitis. The maintenance fluid requirement in these children is usually about 50 ml/kg/per day, and children with hyponatraemia caused by water overload need even lower fluid intakes. In developing countries, most children with pneumonia and meningitis should be managed without intravenous fluid treatment. [ABSTRACT FROM AUTHOR]

Published
1985
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50. High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR.

Author

Germer, S, Holland, M J, and Higuchi, R

Abstract

We have developed an accurate, yet inexpensive and high-throughput, method for determining the allele frequency of biallelic polymorphisms in pools of DNA samples. The assay combines kinetic (real-time quantitative) PCR with allele-specific amplification and requires no post-PCR processing. The relative amounts of each allele in a sample are quantified. This is performed by dividing equal aliquots of the pooled DNA between two separate PCR reactions, each of which contains a primer pair specific to one or the other allelic SNP variant. For pools with equal amounts of the two alleles, the two amplifications should reach a detectable level of fluorescence at the same cycle number. For pools that contain unequal ratios of the two alleles, the difference in cycle number between the two amplification reactions can be used to calculate the relative allele amounts. We demonstrate the accuracy and reliability of the assay on samples with known predetermined SNP allele frequencies from 5% to 95%, including pools of both human and mouse DNAs using eight different SNPs altogether. The accuracy of measuring known allele frequencies is very high, with the strength of correlation between measured and known frequencies having an r(2) = 0.997. The loss of sensitivity as a result of measurement error is typically minimal, compared with that due to sampling error alone, for population samples up to 1000. We believe that by providing a means for SNP genotyping up to thousands of samples simultaneously, inexpensively, and reproducibly, this method is a powerful strategy for detecting meaningful polymorphic differences in candidate gene association studies and genome-wide linkage disequilibrium scans.

Published
2000

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