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1. A genome-wide association study of anorexia nervosa

Author

Boraska, V, Franklin, C S, Floyd, J A B, Thornton, L M, Huckins, L M, Southam, L, Rayner, N W, Tachmazidou, I, Klump, K L, Treasure, J, Lewis, C M, Schmidt, U, Tozzi, F, Kiezebrink, K, Hebebrand, J, Gorwood, P, Adan, R A H, Kas, M J H, Favaro, A, Santonastaso, P, Fernández-Aranda, F, Gratacos, M, Rybakowski, F, Dmitrzak-Weglarz, M, Kaprio, J, Keski-Rahkonen, A, Raevuori, A, Van Furth, E F, Slof-Op 't Landt, M C T, Hudson, J I, Reichborn-Kjennerud, T, Knudsen, G P S, Monteleone, P, Kaplan, A S, Karwautz, A, Hakonarson, H, Berrettini, W H, Guo, Y, Li, D, Schork, N J, Komaki, G, Ando, T, Inoko, H, Esko, T, Fischer, K, Männik, K, Metspalu, A, Baker, J H, Cone, R D, Dackor, J, DeSocio, J E, Hilliard, C E, O'Toole, J K, Pantel, J, Szatkiewicz, J P, Taico, C, Zerwas, S, Trace, S E, Davis, O S P, Helder, S, Bühren, K, Burghardt, R, de Zwaan, M, Egberts, K, Ehrlich, S, Herpertz-Dahlmann, B, Herzog, W, Imgart, H, Scherag, A, Scherag, S, Zipfel, S, Boni, C, Ramoz, N, Versini, A, Brandys, M K, Danner, U N, de Kovel, C, Hendriks, J, Koeleman, B P C, Ophoff, R A, Strengman, E, van Elburg, A A, Bruson, A, Clementi, M, Degortes, D, Forzan, M, Tenconi, E, Docampo, E, Escaramís, G, Jiménez-Murcia, S, Lissowska, J, Rajewski, A, Szeszenia-Dabrowska, N, Slopien, A, Hauser, J, Karhunen, L, Meulenbelt, I, Slagboom, P E, Tortorella, A, Maj, M, Dedoussis, G, Dikeos, D, Gonidakis, F, Tziouvas, K, Tsitsika, A, Papezova, H, Slachtova, L, Martaskova, D, Kennedy, J L, Levitan, R D, Yilmaz, Z, Huemer, J, Koubek, D, Merl, E, Wagner, G, Lichtenstein, P, Breen, G, Cohen-Woods, S, Farmer, A, McGuffin, P, Cichon, S, Giegling, I, Herms, S, Rujescu, D, Schreiber, S, Wichmann, H-E, Dina, C, Sladek, R, Gambaro, G, Soranzo, N, Julia, A, Marsal, S, Rabionet, R, Gaborieau, V, Dick, D M, Palotie, A, Ripatti, S, Widén, E, Andreassen, O A, Espeseth, T, Lundervold, A, Reinvang, I, Steen, V M, Le Hellard, S, Mattingsdal, M, Ntalla, I, Bencko, V, Foretova, L, Janout, V, Navratilova, M, Gallinger, S, Pinto, D, Scherer, S W, Aschauer, H, Carlberg, L, Schosser, A, Alfredsson, L, Ding, B, Klareskog, L, Padyukov, L, Courtet, P, Guillaume, S, Jaussent, I, Finan, C, Kalsi, G, Roberts, M, Logan, D W, Peltonen, L, Ritchie, G R S, Barrett, J C, Estivill, X, Hinney, A, Sullivan, P F, Collier, D A, Zeggini, E, and Bulik, C M

Published
2014
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2. Using ancestry-informative markers to identify fine structure across 15 populations of European origin

Author

Huckins, Laura M, Boraska, Vesna, Southam, L, Karhunen, L, Meulenbelt, I, Slagboom, P E, Tortorella, A, Maj, M, Dedoussis, G, Dikeos, D, Gonidakis, F, Tziouvas, K, Tsitsika, A, Rayner, N William, Papezova, H, Slachtova, L, Martaskova, D, Kennedy, J L, Levitan, R D, Yilmaz, Z, Huemer, J, Koubek, D, Merl, E, Wagner, G, Tachmazidou, I, Lichtenstein, P, Breen, G, Cohen-Woods, S, Farmer, A, McGuffin, P, Cichon, Sven, Giegling, I, Herms, S, Rujescu, D, Schreiber, S, Klump, K L, Wichmann, H-E, Dina, C, Sladek, R, Gambaro, G, Soranzo, N, Julia, A, Marsal, S, Rabionet, R a, Gaborieau, V, Dick, D M, Treasure, J, Palotie, A, Ripatti, S, Widén, E, Andreassen, O A, Espeseth, T, Lundervold, A, Reinvang, I, Steen, V M, Hellard, S Le, Mattingsda, M, Lewis, C M, Ntalla, I, Bencko, V, Foretova, L, Janout, V, Navratilova, M, Gallinger, S, Pinto, D, Scherer, S W, Aschauer, H, Carlberg, L, Schmidt, U, Schosser, A, Alfredsson, L, Ding, B, Klareskog, L, Padyukov, L, Finan, C, Kalsi, G, Roberts, M, Logan, D W, Peltonen, L, Tozzi, F, Ritchie, G R S, Courtet, P, Guillame, S, Jaussent, I, Barrett, J C, Estivill, X, Hinney, A, Sullivan, P F, Collier, D A, Zeggini, E, Kiezebrink, K, Bulik, C M, Anderson, Carl A, Barrett, Jeffrey C, Floyd, James AB, Franklin, Christopher S, McGinnis, Ralph, Soranzo, Nicole, Zeggini, Eleftheria, Sambrook, Jennifer, Stephens, Jonathan, Hebebrand, J, Ouwehand, Willem H, McArdle, Wendy L, Ring, Susan M, Strachan, David P, Alexander, Graeme, Bulik, Cynthia M, Collier, David A, Conlon, Peter J, Dominiczak, Anna, Duncanson, Audrey, Gorwood, P, Hill, Adrian, Langford, Cordelia, Lord, Graham, Maxwell, Alexander P, Morgan, Linda, Peltonen, Leena, Sandford, Richard N, Sheerin, Neil, Vannberg, Fredrik O, Adan, R A H, Genotyping, D N A, Blackburn, Hannah, Chen, Wei-Min, Edkins, Sarah, Gillman, Mathew, Gray, Emma, Hunt, Sarah E, nengut-Gumuscu, Suna, Kas, M J H, Potter, Simon, Rich, Stephen S, Simpkin, Douglas, Whittaker, Pamela, Sullivan, Patrick F, Tyler-Smith, Chris, Tachmazidou, Ioanna, avaro, A F, Santonastaso, P, Fernández-Aranda, F, Gratacos, M, Rybakowski, F, Dmitrzak-Weglarz, M, Kaprio, J, Floyd, James A B, Keski-Rahkonen, A, Raevuori, A, Van Furth, E F, Slof-Op t Landt, M C T, Hudson, J I, Reichborn-Kjennerud, T, Knudsen, G P S, Monteleone, P, Kaplan, A S, Karwautz, A, Southam, Lorraine, Hakonarson, H, Berrettini, W H, Guo, Y, Li, D, Schork, N J, Komaki, G, Ando, T, Inoko, H, Esko, T, Fischer, K, Boraska, V, Männik, K, Metspalu, A, Baker, J H, Cone, R D, Dackor, J, DeSocio, J E, Hilliard, C E, O'Toole, J K, Pantel, J, Szatkiewicz, J P, Franklin, C S, Taico, C, Zerwas, S, Trace, S E, Davis, O S P, Helder, S, Bühren, K, Burghardt, R, de Zwaan, M, Egberts, K, Ehrlich, S, Floyd, J A B, Herpertz-Dahlmann, B, Herzog, W, Imgart, H, Scherag, A, Scherag, S, Zipfel, S, Boni, C, Ramoz, N, Versini, A, Brandys, M K, Thornton, L M, Danner, U N, de Kove, C, Hendriks, J, Koeleman, B P C, Ophoff, R A, Strengman, E, van Elburg, A A, Bruson, A, Clementi, M, Degortes, D, Huckins, L M, Forzan, M, Tenconi, E, Docampo, E, Escaramís, G, Jiménez-Murcia, S, Lissowska, J, Rajewski, A, Szeszenia-Dabrowska, N, Slopien, A, Hauser, J, Huckins, Laura M., Boraska, Vesna, Franklin, Christopher S., Floyd, J. A. B., Southam, Lorraine, Sullivan, P. F., Bulik, Cynthia M, Collier, David A, Tyler-Smith, Chri, Zeggini, Eleftheria, Tachmazidou, Ioanna, Thornton, L. M., William Rayner, N., Klump, K. L., Lewis, C. M., Schmidt, U., Tozzi, F., Kiezebrink, K., Hebebrand, J., Gorwood, P., Adan, R. A. H., Kas, M. J. H., Favaro, A., Santonastaso, P., Fernández-Aranda, F., Gratacos, M., Rybakowski, F., Dmitrzak-Weglarz, M., Kaprio, J., Raevuori, A., Van Furth, E. F., Slof-Op t Landt, M. C. T., Hudson, J. I., Reichborn-Kjennerud, T., Knudsen, G. P. S., Monteleone, P., Kaplan, A. S., Karwautz, A., Hakonarson, H., Berrettini, W. H., Guo, Y., Li, D., Schork, N. J., Komaki, G., Ando, T., Inoko, H., Esko, T., Fischer, K., Männik, K., Metspalu, A., Baker, J. H., Davis, O. S. P., Dackor, J., Desocio, J. E., Hilliard, C. E., O'Toole, J. K., Pantel, J., Szatkiewicz, J. P., Taico, C., Zerwas, S., Trace, S. E., Helder, S., Bühren, K., Burghardt, R., de Zwaan, M., Egberts, K., Ehrlich, S., Herpertz-Dahlmann, B., Herzog, W., Imgart, H., Scherag, A., Zipfel, S., Boni, C., Ramoz, N., Versini, A., Brandys, M. K., Danner, U. N., de Kovel, C., Hendriks, J., Koeleman, B. P. C., Ophoff, R. A., Strengman, E., van Elburg, A. A., Bruson, A., Clementi, M., Degortes, D., Forzan, M., Docampo, E., Escaramís, G., Jiménez-Murcia, S., Lissowska, J., Rajewski, A., Szeszenia-Dabrowska, N., Slopien, A., Hauser, J., Karhunen, L., Meulenbelt, I., Slagboom, P. E., Tortorella, A., Maj, M., Dedoussis, G., Dikeos, D., Gonidakis, F., Tziouvas, K., Tsitsika, A., Papezova, H., Slachtova, L., Martaskova, D., Kennedy, J. L., Levitan, R. D., Yilmaz, Z., Huemer, J., Koubek, D., Merl, E., Wagner, G., Lichtenstein, P., Breen, G., Cohen-Woods, S., Farmer, A., Mcguffin, P., Cichon, S., Giegling, I., Herms, S., Rujescu, D., Schreiber, S., Wichmann, H. -E., Dina, C., Sladek, R., Gambaro, G., Soranzo, N., Julia, A., Marsal, S., Rabionet, Ra, Gaborieau, V., Dick, D. M., Palotie, A., Ripatti, S., Widén, E., Andreassen, O. A., Espeseth, T., Lundervold, A., Reinvang, I., Steen, V. M., Le Hellard, S., Mattingsdal, M., Ntalla, I., Bencko, V., Foretova, L., Janout, V., Navratilova, M., Gallinger, S., Pinto, D., Scherer, S. W., Aschauer, H., Carlberg, L., Schosser, A., Alfredsson, L., Ding, B., Klareskog, L., Padyukov, L., Finan, C., Kalsi, G., Roberts, M., Logan, D. W., Peltonen, Leena, Ritchie, G. R. S., Courtet, P., Guillame, S., Jaussent, I., Barrett, J. C., Estivill, X., Hinney, A., Bulik, C. M., Mcginnis, Ralph, Sambrook, Jennifer, Stephens, Jonathan, Ouwehand, Willem H, Mcardle, Wendy L, Ring, Susan M, Strachan, David P, Alexander, Graeme, Conlon, Peter J, Dominiczak, Anna, Duncanson, Audrey, Hill, Adrian, Langford, Cordelia, Lord, Graham, Maxwell, Alexander P, Morgan, Linda, Sandford, Richard N, Sheerin, Neil, Vannberg, Fredrik O, Blackburn, Hannah, Chen, Wei-Min, Edkins, Sarah, Gillman, Mathew, Gray, Emma, Hunt, Sarah E, Onengut-Gumuscu, Suna, Potter, Simon, Rich, Stephen S, Simpkin, Dougla, Whittaker, Pamela, Hebebrand, Johannes (Beitragende*r), Scherag, S (Beitragende*r), Hinney, Anke (Beitragende*r), Hjelt Institute (-2014), Department of Public Health, Institute for Molecular Medicine Finland, Research Programs Unit, Research Programme of Molecular Medicine, Biostatistics Helsinki, Complex Disease Genetics, Genomics of Neurological and Neuropsychiatric Disorders, Genetic Epidemiology, Sullivan, Patrick F [0000-0002-6619-873X], and Apollo - University of Cambridge Repository

Subjects
Anorexia Nervosa, Genotyping Techniques, DIVERSITY, Medizin, SNPne, Genome-wide association study, 0302 clinical medicine, Gene Frequency, Genetic Marker, Settore MED/14 - NEFROLOGIA, AIM, WTCCC3, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Genetics, Genetics & Heredity, 0303 health sciences, education.field_of_study, Principal Component Analysis, ASSOCIATION, Single Nucleotide, 3142 Public health care science, environmental and occupational health, 3. Good health, Phylogeography, population stratification, AIMs, principal component analysis, SET, Human, Genetic Markers, population stratification, Population, Clinical Sciences, European Continental Ancestry Group, AIMs, Reproducibility of Result, Single-nucleotide polymorphism, Ancestry-informative marker, Biology, principal component analysi, Population stratification, population stratification, principal component analysis, Polymorphism, Single Nucleotide, Article, White People, 03 medical and health sciences, Genetic, Clinical Research, ddc:570, Humans, Polymorphism, education, Allele frequency, 030304 developmental biology, GCAN, Oligonucleotide Array Sequence Analysi, Human Genome, Reproducibility of Results, Minor allele frequency, Genetics, Population, Evolutionary biology, Sample Size, 3111 Biomedicine, Genotyping Technique, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

The Wellcome Trust Case Control Consortium 3 anorexia nervosa genome-wide association scan includes 2907 cases from 15 different populations of European origin genotyped on the Illumina 670K chip. We compared methods for identifying population stratification, and suggest list of markers that may help to counter this problem. It is usual to identify population structure in such studies using only common variants with minor allele frequency (MAF) >5%; we find that this may result in highly informative SNPs being discarded, and suggest that instead all SNPs with MAF >1% may be used. We established informative axes of variation identified via principal component analysis and highlight important features of the genetic structure of diverse European-descent populations, some studied for the first time at this scale. Finally, we investigated the substructure within each of these 15 populations and identified SNPs that help capture hidden stratification. This work can provide information regarding the designing and interpretation of association results in the International Consortia.European Journal of Human Genetics advance online publication, 19 February 2014; doi:10.1038/ejhg.2014.1.

Published
2014

3. A genome-wide association study of anorexia nervosa

Author

Boraska, V. Franklin, C.S. Floyd, J.A.B. Thornton, L.M. Huckins, L.M. Southam, L. Rayner, N.W. Tachmazidou, I. Klump, K.L. Treasure, J. Lewis, C.M. Schmidt, U. Tozzi, F. Kiezebrink, K. Hebebrand, J. Gorwood, P. Adan, R.A.H. Kas, M.J.H. Favaro, A. Santonastaso, P. Fernández-Aranda, F. Gratacos, M. Rybakowski, F. Dmitrzak-Weglarz, M. Kaprio, J. Keski-Rahkonen, A. Raevuori, A. Van Furth, E.F. Slof-Op 't Landt, M.C.T. Hudson, J.I. Reichborn-Kjennerud, T. Knudsen, G.P.S. Monteleone, P. Kaplan, A.S. Karwautz, A. Hakonarson, H. Berrettini, W.H. Guo, Y. Li, D. Schork, N.J. Komaki, G. Ando, T. Inoko, H. Esko, T. Fischer, K. Männik, K. Metspalu, A. Baker, J.H. Cone, R.D. Dackor, J. DeSocio, J.E. Hilliard, C.E. O'Toole, J.K. Pantel, J. Szatkiewicz, J.P. Taico, C. Zerwas, S. Trace, S.E. Davis, O.S.P. Helder, S. Bühren, K. Burghardt, R. De Zwaan, M. Egberts, K. Ehrlich, S. Herpertz-Dahlmann, B. Herzog, W. Imgart, H. Scherag, A. Scherag, S. Zipfel, S. Boni, C. Ramoz, N. Versini, A. Brandys, M.K. Danner, U.N. De Kovel, C. Hendriks, J. Koeleman, B.P.C. Ophoff, R.A. Strengman, E. Van Elburg, A.A. Bruson, A. Clementi, M. Degortes, D. Forzan, M. Tenconi, E. Docampo, E. Escaramís, G. Jiménez-Murcia, S. Lissowska, J. Rajewski, A. Szeszenia-Dabrowska, N. Slopien, A. Hauser, J. Karhunen, L. Meulenbelt, I. Slagboom, P.E. Tortorella, A. Maj, M. Dedoussis, G. Dikeos, D. Gonidakis, F. Tziouvas, K. Tsitsika, A. Papezova, H. Slachtova, L. Martaskova, D. Kennedy, J.L. Levitan, R.D. Yilmaz, Z. Huemer, J. Koubek, D. Merl, E. Wagner, G. Lichtenstein, P. Breen, G. Cohen-Woods, S. Farmer, A. McGuffin, P. Cichon, S. Giegling, I. Herms, S. Rujescu, D. Schreiber, S. Wichmann, H.-E. Dina, C. Sladek, R. Gambaro, G. Soranzo, N. Julia, A. Marsal, S. Rabionet, R. Gaborieau, V. Dick, D.M. Palotie, A. Ripatti, S. Widén, E. Andreassen, O.A. Espeseth, T. Lundervold, A. Reinvang, I. Steen, V.M. Le Hellard, S. Mattingsdal, M. Ntalla, I. Bencko, V. Foretova, L. Janout, V. Navratilova, M. Gallinger, S. Pinto, D. Scherer, S.W. Aschauer, H. Carlberg, L. Schosser, A. Alfredsson, L. Ding, B. Klareskog, L. Padyukov, L. Courtet, P. Guillaume, S. Jaussent, I. Finan, C. Kalsi, G. Roberts, M. Logan, D.W. Peltonen, L. Ritchie, G.R.S. Barrett, J.C. Anderson, C.A. McGinnis, R. Zeggini, E. Sambrook, J. Stephens, J. Ouwehand, W.H. McArdle, W.L. Ring, S.M. Strachan, D.P. Alexander, G. Bulik, C.M. Collier, D.A. Conlon, P.J. Dominiczak, A. Duncanson, A. Hill, A. Langford, C. Lord, G. Maxwell, A.P. Morgan, L. Sandford, R.N. Sheerin, N. Vannberg, F.O. Blackburn, H. Chen, W.-M. Edkins, S. Gillman, M. Gray, E. Hunt, S.E. Onengut-Gumuscu, S. Potter, S. Rich, S.S. Simpkin, D. Whittaker, P. Estivill, X. Hinney, A. Sullivan, P.F. The Wellcome Trust Case Control Consortium 3

Abstract

Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by dangerously low body weight. Neither candidate gene studies nor an initial genome-wide association study (GWAS) have yielded significant and replicated results. We performed a GWAS in 2907 cases with AN from 14 countries (15 sites) and 14 860 ancestrally matched controls as part of the Genetic Consortium for AN (GCAN) and the Wellcome Trust Case Control Consortium 3 (WTCCC3). Individual association analyses were conducted in each stratum and meta-analyzed across all 15 discovery data sets. Seventy-six (72 independent) single nucleotide polymorphisms were taken forward for in silico (two data sets) or de novo (13 data sets) replication genotyping in 2677 independent AN cases and 8629 European ancestry controls along with 458 AN cases and 421 controls from Japan. The final global meta-analysis across discovery and replication data sets comprised 5551 AN cases and 21 080 controls. AN subtype analyses (1606 AN restricting; 1445 AN binge-purge) were performed. No findings reached genome-wide significance. Two intronic variants were suggestively associated: rs9839776 (P = 3.01 × 10-7) in SOX2OT and rs17030795 (P = 5.84 × 10-6) in PPP3CA. Two additional signals were specific to Europeans: rs1523921 (P = 5.76 × 10-6) between CUL3 and FAM124B and rs1886797 (P = 8.05 × 10-6) near SPATA13. Comparing discovery with replication results, 76% of the effects were in the same direction, an observation highly unlikely to be due to chance (P = 4 × 10-6), strongly suggesting that true findings exist but our sample, the largest yet reported, was underpowered for their detection. The accrual of large genotyped AN case-control samples should be an immediate priority for the field. © 2014 Macmillan Publishers Limited All rights reserved.

Published
2014

4. Using ancestry-informative markers to identify fine structure across 15 populations of European origin

Author

Huckins, L.M. Boraska, V. Franklin, C.S. Floyd, J.A.B. Southam, L. Sullivan, P.F. Bulik, C.M. Collier, D.A. Tyler-Smith, C. Zeggini, E. Tachmazidou, I. Thornton, L.M. William Rayner, N. Klump, K.L. Treasure, J. Schmidt, U. Tozzi, F. Kiezebrink, K. Hebebrand, J. Gorwood, P. Adan, R.A.H. Kas, M.J.H. Favaro, A. Santonastaso, P. Fernández-Aranda, F. Gratacos, M. Rybakowski, F. Dmitrzak-Weglarz, M. Kaprio, J. Keski-Rahkonen, A. Raevuori, A. Van Furth, E.F. Slof-Op t Landt, M.C.T. Hudson, J.I. Reichborn-Kjennerud, T. Knudsen, G.P.S. Monteleone, P. Kaplan, A.S. Karwautz, A. Hakonarson, H. Berrettini, W.H. Guo, Y. Li, D. Schork, N.J. Komaki, G. Ando, T. Inoko, H. Esko, T. Fischer, K. Männik, K. Metspalu, A. Baker, J.H. Cone, R.D. Dackor, J. DeSocio, J.E. Hilliard, C.E. O'Toole, J.K. Pantel, J. Szatkiewicz, J.P. Taico, C. Zerwas, S. Trace, S.E. Davis, O.S.P. Helder, S. Bühren, K. Burghardt, R. de Zwaan, M. Egberts, K. Ehrlich, S. Herpertz-Dahlmann, B. Herzog, W. Imgart, H. Scherag, S. Zipfel, S. Boni, C. Ramoz, N. Versini, A. Brandys, M.K. Danner, U.N. de Kovel, C. Hendriks, J. Koeleman, B.P.C. Ophoff, R.A. Strengman, E. van Elburg, A.A. Bruson, A. Clementi, M. Degortes, D. Forzan, M. Tenconi, E. Docampo, E. Escaramís, G. Jiménez-Murcia, S. Lissowska, J. Rajewski, A. Szeszenia-Dabrowska, N. Slopien, A. Hauser, J. Karhunen, L. Meulenbelt, I. Slagboom, P.E. Tortorella, A. Maj, M. Dedoussis, G. Dikeos, D. Gonidakis, F. Tziouvas, K. Tsitsika, A. Papezova, H. Slachtova, L. Martaskova, D. Kennedy, J.L. Levitan, R.D. Yilmaz, Z. Huemer, J. Koubek, D. Merl, E. Wagner, G. Lichtenstein, P. Breen, G. Cohen-Woods, S. Farmer, A. McGuffin, P. Cichon, S. Giegling, I. Herms, S. Rujescu, D. Schreiber, S. Wichmann, H.-E. Dina, C. Sladek, R. Gambaro, G. Soranzo, N. Julia, A. Marsal, S. Rabionet, R. Gaborieau, V. Dick, D.M. Palotie, A. Ripatti, S. Widén, E. Andreassen, O.A. Espeseth, T. Lundervold, A. Reinvang, I. Steen, V.M. Le Hellard, S. Mattingsdal, M. Ntalla, I. Bencko, V. Foretova, L. Janout, V. Navratilova, M. Gallinger, S. Pinto, D. Scherer, S.W. Aschauer, H. Carlberg, L. Schosser, A. Alfredsson, L. Ding, B. Klareskog, L. Padyukov, L. Finan, C. Kalsi, G. Roberts, M. Logan, D.W. Peltonen, L. Ritchie, G.R.S. Courtet, P. Guillame, S. Jaussent, I. Barrett, J.C. Estivill, X. Hinney, A. Bulik, C.M. McGinnis, R. Sambrook, J. Stephens, J. Ouwehand, W.H. McArdle, W.L. Ring, S.M. Strachan, D.P. Alexander, G. Conlon, P.J. Dominiczak, A. Anderson, C.A. Hill, A. Langford, C. Lord, G. Maxwell, A.P. Morgan, L. Sandford, R.N. Sheerin, N. Vannberg, F.O. Blackburn, H. Chen, W.-M. Edkins, S. Gillman, M. Gray, E. Hunt, S.E. Onengut-Gumuscu, S. Potter, S. Rich, S.S. Simpkin, D. Whittaker, P.

Abstract

The Wellcome Trust Case Control Consortium 3 anorexia nervosa genome-wide association scan includes 2907 cases from 15 different populations of European origin genotyped on the Illumina 670K chip. We compared methods for identifying population stratification, and suggest list of markers that may help to counter this problem. It is usual to identify population structure in such studies using only common variants with minor allele frequency (MAF) >5%; we find that this may result in highly informative SNPs being discarded, and suggest that instead all SNPs with MAF >1% may be used. We established informative axes of variation identified via principal component analysis and highlight important features of the genetic structure of diverse European-descent populations, some studied for the first time at this scale. Finally, we investigated the substructure within each of these 15 populations and identified SNPs that help capture hidden stratification. This work can provide information regarding the designing and interpretation of association results in the International Consortia. © 2014 Macmillan Publishers Limited All rights reserved.

Published
2014

5. NURTURE: development and pilot testing of a novel parenting intervention for mothers with histories of an eating disorder.

Author

Runfola CD, Zucker NL, Von Holle A, Mazzeo S, Hodges EA, Perrin EM, Bentley ME, Ulman TF, Hoffman ER, Forsberg S, Algars M, Zerwas S, Pisetsky EM, Taico C, Kuhns RA, Hamer RM, and Bulik CM

Subjects
Adolescent, Adult, Anxiety epidemiology, Anxiety prevention & control, Child, Preschool, Depression epidemiology, Depression prevention & control, Feasibility Studies, Feedback, Psychological, Female, Follow-Up Studies, Humans, Infant, Infant, Newborn, Mother-Child Relations, Mothers education, Mothers statistics & numerical data, North Carolina, Pilot Projects, Self Efficacy, Self-Help Groups, Surveys and Questionnaires, Feeding Behavior psychology, Feeding and Eating Disorders psychology, Maternal Behavior psychology, Mothers psychology, Parenting psychology
Abstract

Objective: To describe the treatment development and pilot testing of a group parenting intervention, NURTURE (Networking, Uniting, and Reaching out To Upgrade Relationships and Eating), for mothers with histories of eating disorders., Method: Based on focus group findings, extant research, and expert opinion, NURTURE was designed to be delivered weekly over 16 (1.5 h) sessions via an interactive web conferencing forum. It comprises four modules: (1) laying the foundation, (2) general parenting skills, (3) eating and feeding, and (4) breaking the cycle of risk. Pilot testing was conducted with three groups of 3-6 mothers (N = 13) who had children ages 0-3 years to determine feasibility (e.g., retention), acceptability (e.g., feedback questionnaire responses), and preliminary efficacy. Maternal satisfaction with NURTURE and changes in mother-child feeding relationship measures, maternal feeding style, maternal self-efficacy, and maternal psychopathology (eating disorder, depression, and anxiety symptoms) across three time points (baseline, post-treatment, 6-month follow-up) were examined. All outcomes were exploratory., Results: The intervention was well tolerated with a 100% retention rate. Feedback from mothers was generally positive and indicated that the groups provided an engaging, supportive experience to participants. We observed changes suggestive of improvement in self-reported maternal self-efficacy and competence with parenting. There were no notable changes in measures of maternal feeding style or psychopathology., Discussion: NURTURE is a feasible, acceptable, and potentially valuable intervention for mothers with eating disorder histories. Results of this pilot will inform a larger randomized-controlled intervention to determine efficacy and impact on child outcomes., (Copyright © 2013 Wiley Periodicals, Inc.)

Published
2014
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