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10. Publisher Correction: Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability (Nature Genetics, (2018), 50, 5, (652-656), 10.1038/s41588-018-0100-5)

Author

Hysi P. G., Valdes A. M., Liu F., Furlotte N. A., Evans D. M., Bataille V., Visconti A., Hemani G., McMahon G., Ring S. M., Smith G. D., Duffy D. L., Zhu G., Gordon S. D., Medland S. E., Lin B. D., Willemsen G., Jan Hottenga J., Vuckovic D., Girotto G., Gandin I., Sala C., Concas M. P., Brumat M., Gasparini P., Toniolo D., Cocca M., Robino A., Yazar S., Hewitt A. W., Chen Y., Zeng C., Uitterlinden A. G., Ikram M. A., Hamer M. A., van Duijn C. M., Nijsten T., Mackey D. A., Falchi M., Boomsma D. I., Martin N. G., Hinds D. A., Kayser M., Spector T. D., Hysi, P. G., Valdes, A. M., Liu, F., Furlotte, N. A., Evans, D. M., Bataille, V., Visconti, A., Hemani, G., Mcmahon, G., Ring, S. M., Smith, G. D., Duffy, D. L., Zhu, G., Gordon, S. D., Medland, S. E., Lin, B. D., Willemsen, G., Jan Hottenga, J., Vuckovic, D., Girotto, G., Gandin, I., Sala, C., Concas, M. P., Brumat, M., Gasparini, P., Toniolo, D., Cocca, M., Robino, A., Yazar, S., Hewitt, A. W., Chen, Y., Zeng, C., Uitterlinden, A. G., Ikram, M. A., Hamer, M. A., van Duijn, C. M., Nijsten, T., Mackey, D. A., Falchi, M., Boomsma, D. I., Martin, N. G., Hinds, D. A., Kayser, M., and Spector, T. D.

Subjects
Publisher correction
Abstract

N/A

Published
2019

11. Overlapping genetic architecture between Parkinson disease and melanoma

Author

Dube, Umber Ibanez, Laura Budde, John P. Benitez, Bruno A. and Davis, Albert A. Harari, Oscar Iles, Mark M. Law, Matthew H. Brown, Kevin M. Agee, Michelle Alipanahi, Babak and Auton, Adam Bell, Robert K. Bryc, Katarzyna Elson, Sarah L. Fontanillas, Pierre Furlotte, Nicholas A. Hinds, David A. and Huber, Karen E. Kleinman, Aaron Litterman, Nadia K. and McCreight, Jennifer C. McIntyre, Matthew H. Mountain, Joanna L. and Noblin, Elizabeth S. Northover, Carrie A. M. Pitts, Steven J. Sathirapongsasuti, J. Fah Sazonova, Olga V. Shelton, Janie F. Shringarpure, Suyash Tian, Chao Tung, Joyce Y. and Vacic, Vladimir Wilson, Catherine H. Law, M. H. Law, M. H. and Bishop, D. T. Lee, J. E. Brossard, M. Martin, N. G. and Moses, E. K. Song, F. Barrett, J. H. Kumar, R. Easton, D. F. Pharoah, P. D. Swerdlow, A. J. Kypreou, K. P. and Taylor, J. C. Harland, M. Randerson-Moor, J. Akslen, L. A. and Andresen, P. A. Avril, M. F. Azizi, E. Scarra, G. B. and Brown, K. M. Debniak, T. Duffy, D. L. Elder, D. E. Fang, S. Friedman, E. Galan, P. Ghiorzo, P. Gillanders, E. M. and Goldstein, A. M. Gruis, N. A. Hansson, J. Helsing, P. and Hocevar, M. Hoiom, V. Ingvar, C. Kanetsky, P. A. and Chen, W. V. Landi, M. T. Lang, J. Lathrop, G. M. and Lubinski, J. Mackie, R. M. Mann, G. J. Molven, A. and Montgomery, G. W. Novakovic, S. Olsson, H. Puig, S. and Puig-Butille, J. A. Wu, W. Qureshi, A. A. Radford-Smith, G. L. Van der Stoep, N. Van Doorn, R. Whiteman, D. C. and Craig, J. E. Schadendorf, E. Simms, L. A. Burdon, K. P. and Nyholt, D. R. Pooley, K. A. Orr, N. Stratigos, A. J. and Cust, A. E. Ward, S. V. Hayward, N. K. Han, J. Schulze, H. J. Dunning, A. M. Bishop, J. A. Demenais, F. Amos, C. I. MacGregor, S. Iles, M. M. Cruchaga, Carlos 23andMe Research Team Melanoma Meta Analysis Consortium

Abstract

Epidemiologic studies have reported inconsistent results regarding an association between Parkinson disease (PD) and cutaneous melanoma (melanoma). Identifying shared genetic architecture between these diseases can support epidemiologic findings and identify common risk genes and biological pathways. Here, we apply polygenic, linkage disequilibrium-informed methods to the largest available case-control, genome-wide association study summary statistic data for melanoma and PD. We identify positive and significant genetic correlation (correlation: 0.17, 95% CI 0.10-0.24; P = 4.09 x 10(-06)) between melanoma and PD. We further demonstrate melanoma and PD-inferred gene expression to overlap across tissues (correlation: 0.14, 95% CI 0.06 to 0.22; P = 7.87 x 10(-04)) and highlight seven genes including PIEZO1, TRAPPC2L, and SOX6 as potential mediators of the genetic correlation between melanoma and PD. These findings demonstrate specific, shared genetic architecture between PD and melanoma that manifests at the level of gene expression.

Published
2020

14. Overlapping genetic architecture between Parkinson disease and melanoma

Author

Dube, U., Ibanez, L., Budde, J. P., Benitez, B. A., Davis, A. A., Harari, O., Iles, M. M., Law, M. H., Brown, K. M., Agee, M., Alipanahi, B., Auton, A., Bell, R. K., Bryc, K., Elson, S. L., Fontanillas, P., Furlotte, N. A., Hinds, D. A., Huber, K. E., Kleinman, A., Litterman, N. K., Mccreight, J. C., Mcintyre, M. H., Mountain, J. L., Noblin, E. S., Northover, C. A. M., Pitts, S. J., Sathirapongsasuti, J. F., Sazonova, O. V., Shelton, J. F., Shringarpure, S., Tian, C., Tung, J. Y., Vacic, V., Wilson, C. H., Bishop, D. T., Lee, J. E., Brossard, M., Martin, N. G., Moses, E. K., Song, F., Barrett, J. H., Kumar, R., Easton, D. F., Pharoah, P. D., Swerdlow, A. J., Kypreou, K. P., Taylor, J. C., Harland, M., Randerson-Moor, J., Akslen, L. A., Andresen, P. A., Avril, M. F., Azizi, E., Scarra, G. B., Debniak, T., Duffy, D. L., Elder, D. E., Fang, S., Friedman, E., Galan, P., Ghiorzo, P., Gillanders, E. M., Goldstein, A. M., Gruis, N. A., Hansson, J., Helsing, P., Hocevar, M., Hoiom, V., Ingvar, C., Kanetsky, P. A., Chen, W. V., Landi, M. T., Lang, J., Lathrop, G. M., Lubinski, J., Mackie, R. M., Mann, G. J., Molven, A., Montgomery, G. W., Novakovic, S., Olsson, H., Puig, S., Puig-Butille, J. A., Wu, W., Qureshi, A. A., Radford-Smith, G. L., van der Stoep, N., van Doorn, R., Whiteman, D. C., Craig, J. E., Schadendorf, E., Simms, L. A., Burdon, K. P., Nyholt, D. R., Pooley, K. A., Orr, N., Stratigos, A. J., Cust, A. E., Ward, S. V., Hayward, N. K., Han, J., Schulze, H. J., Dunning, A. M., Bishop, J. A., Demenais, F., Amos, C. I., Macgregor, S., and Cruchaga, C.

Subjects
0301 basic medicine, Oncology, medicine.medical_specialty, Genetic correlation, Multifactorial Inheritance, Skin Neoplasms, Medizin, TWAS, Disease, Melanoma, Parkinson disease, Polygenic, Shared genetic architecture, Pathology and Forensic Medicine, Correlation, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Internal medicine, Gene expression, Medicine, Humans, Gene, business.industry, Parkinson Disease, medicine.disease, Genetic architecture, 030104 developmental biology, Case-Control Studies, Cutaneous melanoma, Neurology (clinical), business, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Epidemiologic studies have reported inconsistent results regarding an association between Parkinson disease (PD) and cutaneous melanoma (melanoma). Identifying shared genetic architecture between these diseases can support epidemiologic findings and identify common risk genes and biological pathways. Here, we apply polygenic, linkage disequilibrium-informed methods to the largest available case-control, genome-wide association study summary statistic data for melanoma and PD. We identify positive and significant genetic correlation (correlation: 0.17, 95% CI 0.10-0.24; P = 4.09 x 10(-06)) between melanoma and PD. We further demonstrate melanoma and PD-inferred gene expression to overlap across tissues (correlation: 0.14, 95% CI 0.06 to 0.22; P = 7.87 x 10(-04)) and highlight seven genes including PIEZO1, TRAPPC2L, and SOX6 as potential mediators of the genetic correlation between melanoma and PD. These findings demonstrate specific, shared genetic architecture between PD and melanoma that manifests at the level of gene expression.

Published
2019

16. Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly

Author

Oates, N. A., van Vliet, J., Duffy, D. L., Kroes, H. Y., Martin, N. G., Boomsma, D. I., Campbell, M., Coulthard, M. G., Whitelaw, E., and S. Chong

Subjects
Methylation -- Analysis, Twins -- Genetic aspects, Twins -- Medical examination, X chromosome -- Health aspects, X chromosome -- Research, Biological sciences
Abstract

Methylation at the promoter region of the AXIN1 gene, which is implicated in caudal duplication anomalies, and in twin and age-matched singleton controls, is examined using bisulfite sequencing. Methylation of the promoter region in peripheral blood mononucleated cells is variable among the individuals, including monozygotic (MZ) pairs.

Published
2006

36. Genome-wide association study unravels genetic determinants of the atopic march

Author

Marenholz, Ingo, Esparza-Gordillo, J., Rueschendorf, F., Strachan, D. P., Spycher, B. D., Baurecht, H., Margaritte-Jeannin, P., Saeaef, A., Kerkhof, M., Ege, M., Baltic, S., Matheson, M. C., Li, J., Ang, W. Q., McArdle, W., Homuth, G., Bouzigon, E., Pershagen, G., Postma, D. S., Braun-Fahrlaender, C., Duffy, D. L., Marks, G. B., Robertson, C. F., Martin, N. G., James, A., Sleiman, P., Foelster-Holst, R., Lieb, W., Gieger, C., Rietschel, E., Keil, T., Noethen, M. M., Sly, P. D., Schmidt, C. O., Matanovic, A., Holt, Pg P. G., Lau, S., Kabesch, M., Weidinger, S., Hakonarson, H., Ferreira, M. A. R., Laprise, C., Freidin, M. B., Genuneit, J., Koppelman, G. H., Melen, E., Dizier, M-H, Henderson, A. J., Lee, Y-A, and Groningen Research Institute for Asthma and COPD (GRIAC)

Published
2016

38. Iris pigmented lesions as a marker of cutaneous melanoma risk: an Australian case–control study.

Author

Laino, A. M., Berry, E. G., Jagirdar, K., Lee, K. J., Duffy, D. L., Soyer, H. P., and Sturm, R. A.

Subjects
IRIS (Eye) diseases, IRIS (Eye), MELANOMA diagnosis, MELANOMA treatment, SKIN cancer patients, PHYSIOLOGY, DISEASE risk factors
Abstract

Summary: Background: Iris naevi and iris freckles have a frequency of 4% and 50% in the European population, respectively. They are associated with dysplastic naevi, but few studies have examined their link to cutaneous melanoma. Objectives: To assess whether iris pigmented lesions are a predictive indicator for cutaneous melanoma. Methods: This is a melanoma case–control study of 1254 European‐background Australians. Sun exposure and melanoma history, a saliva sample for DNA analysis and eye photographs taken with a digital camera were collected from 1117 participants. Iris images were assessed by up to four trained observers for the number of iris pigmented lesions. The data were analysed for correlations between iris pigmented lesions and melanoma history. Results: Case participants over the age of 40 had similar numbers of iris pigmented lesions to age matched controls (mean 5·7 vs. 5·2, P = 0·02), but in younger case and control participants there was a greater difference (mean 3·96 vs. 2·19, P = 0·004). A logistic regression adjusted for age, sex, skin, hair and eye colour, skin freckling and naevus count found that the presence of three or more iris pigmented lesions increases the melanoma risk 1·45‐fold [95% confidence interval (CI) 1·07–1·95]. HERC2/OCA2 rs12913832 and IRF4 rs12203592 influenced both eye colour and the number of iris pigmented lesions. On the HERC2/OCA2 A/A and A/G genotype background there was an increasing proportion of blue eye colour when carrying the IRF4 T allele (P = 3 × 10−4) and a higher number of iris pigmented lesions with the IRF4 T/T homozygote (P = 3 × 10−9). Conclusions: Iris pigmented lesion count provides additional predictive information for melanoma risk above that from conventional risk factors. [ABSTRACT FROM AUTHOR]

Published
2018
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39. Relationship between type 1 diabetes and atopic diseases in a twin population

Author

Thomsen, S F, Duffy, D L, Kyvik, K O, Skytthe, A, and Backer, Vibeke

Subjects
body regions
Abstract

To cite this article: Thomsen SF, Duffy DL, Kyvik KO, Skytthe A, Backer V. Relationship between type 1 diabetes and atopic diseases in a twin population. Allergy 2011; 66: 645-647. ABSTRACT: Aim: To study the association between type 1 diabetes and atopic diseases in a twin population. Methods: We performed record linkage between questionnaire-defined atopic dermatitis, asthma and hay fever, and hospital discharge diagnoses of type 1 diabetes in 54 530 Danish twins, 3-71 years of age. Results: The age- and sex-adjusted risk of atopic dermatitis was decreased in subjects with type 1 diabetes compared with nondiabetic subjects, (2.1%vs 9.9%), odds ratio (OR) = 0.23 (0.07-0.71), P = 0.011, whereas asthma and hay fever were not significantly associated with type 1 diabetes. Within twin pairs discordant for type 1 diabetes, the diabetic twin had a lower risk of atopic dermatitis relative to the nondiabetic co-twin. Genetic factors for atopic dermatitis and type 1 diabetes were negatively correlated (r = -0.30), P = 0.0009. Conclusions: These findings substantiate the Th1 vs Th2 cell dichotomy for type 1 diabetes and atopic dermatitis, and indicate an inverse association between genetic factors for these disorders.

Published
2011

40. Risk of asthma in adult twins with type 2 diabetes and increased body mass index

Author

Thomsen, Simon Francis, Duffy, D L, Kyvik, K O, Skytthe, A, and Backer, Vibeke

Abstract

Aim: To examine the relationship between asthma, type 2 diabetes and increased body mass index (BMI) in adult twins. Methods: We performed record linkage between questionnaire-defined asthma and BMI, and hospital discharge diagnoses of type 2 diabetes in 34,782 Danish twins, 20-71years of age. Results: The risk of asthma was increased in subjects with type 2 diabetes relative to nondiabetic subjects both in men (13.5%vs 7.5%), P=0.001 and in women (16.6%vs 9.6%), P=0.001. The result remained significant after adjustment for age, BMI, smoking, symptoms of chronic bronchitis, marital status and zygosity, men: OR=1.70 (1.07-2.70), P=0.026; women: OR=1.88 (1.24-2.85), P=0.003. In this analysis, BMI remained a highly significant predictor for asthma independently of diabetes status in women, PConclusions: Asthma, type 2 diabetes and increased BMI are strongly associated in adults, particularly in women. These results suggest a common aetiology for asthma and metabolic syndrome. To cite this article: Thomsen SF, Duffy DL, Kyvik KO, Skytthe A, Backer V. Risk of asthma in adult twins with type 2 diabetes and increased body mass index. Allergy 2010; DOI: 10.1111/j.1398-9995.2010.02504.x. ABSTRACT: Aim: To examine the relationship between asthma, type 2 diabetes and increased body mass index (BMI) in adult twins. Methods: We performed record linkage between questionnaire-defined asthma and BMI, and hospital discharge diagnoses of type 2 diabetes in 34 782 Danish twins, 20-71 years of age. Results: The risk of asthma was increased in subjects with type 2 diabetes relative to nondiabetic subjects both in men (13.5%vs 7.5%), P = 0.001 and in women (16.6%vs 9.6%), P = 0.001. The result remained significant after adjustment for age, BMI, smoking, symptoms of chronic bronchitis, marital status and zygosity, men: OR = 1.70 (1.07-2.70), P = 0.026; women: OR = 1.88 (1.24-2.85), P = 0.003. In this analysis, BMI remained a highly significant predictor for asthma independently of diabetes status in women, P

Published
2011

41. Evaluation of the C-BARQ as a measure of stranger-directed aggression in three common dog breeds

Author

Stéphanie van den Berg, Heuven, H. C. M., Den Berg, L., Duffy, D. L., Serpell, J. A., Advances in Veterinary Medicine, and Geneeskunde van gezelschapsdieren

Subjects
Aggression, C-BARQ, METIS-272346, IRT, item response theory, Rasch, Canine
Abstract

Volume 124, Issue 3, Pages 136-141 (May 2010) 8 of 12 Evaluation of the C-BARQ as a measure of stranger-directed aggression in three common dog breeds Stéphanie M. van den Berga, Henri C.M. Heuvenb1, Linda van den Bergc2, Deborah L. Duffyd3, James A. Serpelld3 Accepted 11 February 2010. published online 16 March 2010 Abstract Most test development in animal behaviour research is based on classical test theory. Modern test theory, also known as item-response theory, has however a number of advantages. Here, item-response theory was applied to confirm the stranger-directed aggression subscale of the Canine Behavioral Assessment and Research Questionnaire (C-BARQ). The sample consisted of a total of 1000 German Shepherds, Golden Retrievers and Labrador Retrievers. Results showed a good fit for a 1-parameter (Rasch) model. Although there were statistically significant violations of the measurement invariance assumption across breeds, the violations were only minor and without practical consequence. It is therefore concluded that the subscale consisting of 10 items can be used to quantify stranger-directed aggression in these three breeds, and that scores of different dogs can be compared meaningfully regardless of the dogs’ sex, breed or neutering status. Keywords: Item Response Theory, IRT, Rasch, C-BARQ, Canine, Aggression a University of Twente, Faculty of Behavioural Sciences, Department of Research Methodology, Measurement and Data Analysis, P.O. Box 217, 7500 AE Enschede, The Netherlands b Utrecht University, Faculty of Veterinary Medicine, Department of Clinical Sciences of Companion Animals, P.O. Box 80163, 3508 TD Utrecht, The Netherlands c Leiden University Medical Center, Department of Pediatrics and Department of Human Genetics, S4-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands d University of Pennsylvania, School of Veterinary Medicine, Department of Clinical Studies VHUP, Philadelphia, PA 19104-6010, USA Corresponding author. Tel.: +31 53 489 2422; fax: +31 53 489 4239. 1 Tel.: +31 30 2539782. 2 Tel.: +31 71 526 9400. 3 Tel.: +1 21 5898 1004. PII: S0168-1591(10)00069-9 doi:10.1016/j.applanim.2010.02.005 © 2010 Elsevier B.V. All rights reserved

Published
2010

44. Dizygotic twinning is not linked to variation at the a-inhibin locus on human chromosome 2

Author

Montgomery, G. W., Duffy, D. L., Hall, J., Haddon, B. R., Kudo, M., Mcgee, E. A., Palmer, J. S., Hsueh, A. J., Boomsma, D. I., Nicholas Martin, and Biological Psychology

Subjects
Netherlands Twin Register (NTR), endocrine system, 0303 health sciences, 030219 obstetrics & reproductive medicine, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, hormones, hormone substitutes, and hormone antagonists, 030304 developmental biology
Published
2000

45. Evidence of linkage disequilibrium between schizophrenia and the SCa1 CAG repeat on chromosome 6p23

Author

Wang, S., Detera-Wadleigh, S. D., Coon, H., Sun, C. E., Goldin, L. R., Duffy, D. L., Byerley, W. F., Gershon, E. S., and Diehl, S. R.

Subjects
Male, Letter, Models, Genetic, Genetic Linkage, Nuclear Proteins, Nerve Tissue Proteins, Linkage Disequilibrium, Ataxins, Trinucleotide Repeats, Schizophrenia, Humans, Chromosomes, Human, Pair 6, Computer Simulation, Female, Ataxin-1
Published
1996

49. A genome wide linkage scan for dizygotic twinning in 525 families of mothers of dizygotic twins

Author

Painter, J. N., primary, Willemsen, G., additional, Nyholt, D., additional, Hoekstra, C., additional, Duffy, D. L., additional, Henders, A. K., additional, Wallace, L., additional, Healey, S., additional, Cannon-Albright, L. A., additional, Skolnick, M., additional, Martin, N. G., additional, Boomsma, D. I., additional, and Montgomery, G. W., additional

Published
2010
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