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1. Participation bias in the estimation of heritability and genetic correlation

Author

Song, Shuang, Benonisdottir, Stefania, Liu, Jun S., and Kong, Augustine

Subjects
Statistics - Methodology
Abstract

It is increasingly recognized that participation bias can pose problems for genetic studies. Recently, to overcome the challenge that genetic information of non-participants is unavailable, it is shown that by comparing the IBD (identity by descent) shared and not-shared segments among the participants, one can estimate the genetic component underlying participation. That, however, does not directly address how to adjust estimates of heritability and genetic correlation for phenotypes correlated with participation. Here, for phenotypes whose mean differences between population and sample are known, we demonstrate a way to do so by adopting a statistical framework that separates out the genetic and non-genetic correlations between participation and these phenotypes. Crucially, our method avoids making the assumption that the effect of the genetic component underlying participation is manifested entirely through these other phenotypes. Applying the method to 12 UK Biobank phenotypes, we found 8 have significant genetic correlations with participation, including body mass index, educational attainment, and smoking status. For most of these phenotypes, without adjustments, estimates of heritability and the absolute value of genetic correlation would have underestimation biases.

Published
2024

2. Mendelian imputation of parental genotypes improves estimates of direct genetic effects

Author

Young, Alexander I, Nehzati, Seyed Moeen, Benonisdottir, Stefania, Okbay, Aysu, Jayashankar, Hariharan, Lee, Chanwook, Cesarini, David, Benjamin, Daniel J, Turley, Patrick, and Kong, Augustine

Subjects
Biological Sciences, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Genome-Wide Association Study, Genotype, Humans, Parents, Polymorphism, Single Nucleotide, Software, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Effects estimated by genome-wide association studies (GWASs) include effects of alleles in an individual on that individual (direct genetic effects), indirect genetic effects (for example, effects of alleles in parents on offspring through the environment) and bias from confounding. Within-family genetic variation is random, enabling unbiased estimation of direct genetic effects when parents are genotyped. However, parental genotypes are often missing. We introduce a method that imputes missing parental genotypes and estimates direct genetic effects. Our method, implemented in the software package snipar (single-nucleotide imputation of parents), gives more precise estimates of direct genetic effects than existing approaches. Using 39,614 individuals from the UK Biobank with at least one genotyped sibling/parent, we estimate the correlation between direct genetic effects and effects from standard GWASs for nine phenotypes, including educational attainment (r = 0.739, standard error (s.e.) = 0.086) and cognitive ability (r = 0.490, s.e. = 0.086). Our results demonstrate substantial confounding bias in standard GWASs for some phenotypes.

Published
2022

3. Genetic insights into biological mechanisms governing human ovarian ageing

Author

Ruth, Katherine S, Day, Felix R, Hussain, Jazib, Martínez-Marchal, Ana, Aiken, Catherine E, Azad, Ajuna, Thompson, Deborah J, Knoblochova, Lucie, Abe, Hironori, Tarry-Adkins, Jane L, Gonzalez, Javier Martin, Fontanillas, Pierre, Claringbould, Annique, Bakker, Olivier B, Sulem, Patrick, Walters, Robin G, Terao, Chikashi, Turon, Sandra, Horikoshi, Momoko, Lin, Kuang, Onland-Moret, N Charlotte, Sankar, Aditya, Hertz, Emil Peter Thrane, Timshel, Pascal N, Shukla, Vallari, Borup, Rehannah, Olsen, Kristina W, Aguilera, Paula, Ferrer-Roda, Mònica, Huang, Yan, Stankovic, Stasa, Timmers, Paul RHJ, Ahearn, Thomas U, Alizadeh, Behrooz Z, Naderi, Elnaz, Andrulis, Irene L, Arnold, Alice M, Aronson, Kristan J, Augustinsson, Annelie, Bandinelli, Stefania, Barbieri, Caterina M, Beaumont, Robin N, Becher, Heiko, Beckmann, Matthias W, Benonisdottir, Stefania, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E, Bolla, Manjeet K, Boomsma, Dorret I, Bowker, Nicholas, Brody, Jennifer A, Broer, Linda, Buring, Julie E, Campbell, Archie, Campbell, Harry, Castelao, Jose E, Catamo, Eulalia, Chanock, Stephen J, Chenevix-Trench, Georgia, Ciullo, Marina, Corre, Tanguy, Couch, Fergus J, Cox, Angela, Crisponi, Laura, Cross, Simon S, Cucca, Francesco, Czene, Kamila, Smith, George Davey, de Geus, Eco JCN, de Mutsert, Renée, De Vivo, Immaculata, Demerath, Ellen W, Dennis, Joe, Dunning, Alison M, Dwek, Miriam, Eriksson, Mikael, Esko, Tõnu, Fasching, Peter A, Faul, Jessica D, Ferrucci, Luigi, Franceschini, Nora, Frayling, Timothy M, Gago-Dominguez, Manuela, Mezzavilla, Massimo, García-Closas, Montserrat, Gieger, Christian, Giles, Graham G, Grallert, Harald, Gudbjartsson, Daniel F, Gudnason, Vilmundur, Guénel, Pascal, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hayward, Caroline, He, Chunyan, He, Wei, and Heiss, Gerardo

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Estrogen, Prevention, Women's Health, Contraception/Reproduction, Aging, Infertility, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Good Health and Well Being, Adult, Alleles, Animals, Bone and Bones, Checkpoint Kinase 1, Checkpoint Kinase 2, Diabetes Mellitus, Type 2, Diet, Europe, Asia, Eastern, Female, Fertility, Fragile X Mental Retardation Protein, Genetic Predisposition to Disease, Genome-Wide Association Study, Healthy Aging, Humans, Longevity, Menopause, Menopause, Premature, Mice, Mice, Inbred C57BL, Middle Aged, Ovary, Primary Ovarian Insufficiency, Uterus, Biobank-based Integrative Omics Study (BIOS) Consortium, eQTLGen Consortium, Biobank Japan Project, China Kadoorie Biobank Collaborative Group, kConFab Investigators, LifeLines Cohort Study, InterAct consortium, 23andMe Research Team, General Science & Technology
Abstract

Reproductive longevity is essential for fertility and influences healthy ageing in women1,2, but insights into its underlying biological mechanisms and treatments to preserve it are limited. Here we identify 290 genetic determinants of ovarian ageing, assessed using normal variation in age at natural menopause (ANM) in about 200,000 women of European ancestry. These common alleles were associated with clinical extremes of ANM; women in the top 1% of genetic susceptibility have an equivalent risk of premature ovarian insufficiency to those carrying monogenic FMR1 premutations3. The identified loci implicate a broad range of DNA damage response (DDR) processes and include loss-of-function variants in key DDR-associated genes. Integration with experimental models demonstrates that these DDR processes act across the life-course to shape the ovarian reserve and its rate of depletion. Furthermore, we demonstrate that experimental manipulation of DDR pathways highlighted by human genetics increases fertility and extends reproductive life in mice. Causal inference analyses using the identified genetic variants indicate that extending reproductive life in women improves bone health and reduces risk of type 2 diabetes, but increases the risk of hormone-sensitive cancers. These findings provide insight into the mechanisms that govern ovarian ageing, when they act, and how they might be targeted by therapeutic approaches to extend fertility and prevent disease.

Published
2021

4. The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis

Author

Ivarsdottir, Erna V., Holm, Hilma, Benonisdottir, Stefania, Olafsdottir, Thorhildur, Sveinbjornsson, Gardar, Thorleifsson, Gudmar, Eggertsson, Hannes P., Halldorsson, Gisli H., Hjorleifsson, Kristjan E., Melsted, Pall, Gylfason, Arnaldur, Arnadottir, Gudny A., Oddsson, Asmundur, Jensson, Brynjar O., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Juliusdottir, Thorhildur, Stefansdottir, Lilja, Tragante, Vinicius, Halldorsson, Bjarni V., Petersen, Hannes, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Sulem, Patrick, Hinriksdottir, Ingibjorg, Jonsdottir, Ingileif, Gudbjartsson, Daniel F., and Stefansson, Kari

Published
2021
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5. Correction: Obesity and risk of female reproductive conditions: A Mendelian randomisation study

Author

Venkatesh, Samvida S., Ferreira, Teresa, Benonisdottir, Stefania, Rahmioglu, Nilufer, Becker, Christian M., Granne, Ingrid, Zondervan, Krina T., Holmes, Michael V., Lindgren, Cecilia M., and Wittemans, Laura B. L.

Subjects
Biological sciences
Abstract

Author(s): Samvida S. Venkatesh, Teresa Ferreira, Stefania Benonisdottir, Nilufer Rahmioglu, Christian M. Becker, Ingrid Granne, Krina T. Zondervan, Michael V. Holmes, Cecilia M. Lindgren, Laura B. L. Wittemans Reference 45 [...]

Published
2022
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6. Obesity and risk of female reproductive conditions: A Mendelian randomisation study

Author

Venkatesh, Samvida S., Ferreira, Teresa, Benonisdottir, Stefania, Rahmioglu, Nilufer, Becker, Christian M., Granne, Ingrid, Zondervan, Krina T., Holmes, Michael V., Lindgren, Cecilia M., and Wittemans, Laura B. L.

Subjects
Metabolism -- Health aspects, Obesity -- Physiological aspects -- Complications and side effects, Leptin -- Physiological aspects -- Health aspects, Insulin -- Physiological aspects -- Health aspects, Infertility, Female -- Risk factors -- Development and progression, Biological sciences
Abstract

Background Obesity is observationally associated with altered risk of many female reproductive conditions. These include polycystic ovary syndrome (PCOS), abnormal uterine bleeding, endometriosis, infertility, and pregnancy-related disorders. However, the roles and mechanisms of obesity in the aetiology of reproductive disorders remain unclear. Thus, we aimed to estimate observational and genetically predicted causal associations between obesity, metabolic hormones, and female reproductive disorders. Methods and findings Logistic regression, generalised additive models, and Mendelian randomisation (MR) (2-sample, non-linear, and multivariable) were applied to obesity and reproductive disease data on up to 257,193 women of European ancestry in UK Biobank and publicly available genome-wide association studies (GWASs). Body mass index (BMI), waist-to-hip ratio (WHR), and WHR adjusted for BMI were observationally (odds ratios [ORs] = 1.02-1.87 per 1-SD increase in obesity trait) and genetically (ORs = 1.06-2.09) associated with uterine fibroids (UF), PCOS, heavy menstrual bleeding (HMB), and pre-eclampsia. Genetically predicted visceral adipose tissue (VAT) mass was associated with the development of HMB (OR [95% CI] per 1-kg increase in predicted VAT mass = 1.32 [1.06-1.64], P = 0.0130), PCOS (OR [95% CI] = 1.15 [1.08-1.23], P = 3.24 x 10.sup.-05 ), and pre-eclampsia (OR [95% CI] = 3.08 [1.98-4.79], P = 6.65 x 10.sup.-07). Increased waist circumference posed a higher genetic risk (ORs = 1.16-1.93) for the development of these disorders and UF than did increased hip circumference (ORs = 1.06-1.10). Leptin, fasting insulin, and insulin resistance each mediated between 20% and 50% of the total genetically predicted association of obesity with pre-eclampsia. Reproductive conditions clustered based on shared genetic components of their aetiological relationships with obesity. This study was limited in power by the low prevalence of female reproductive conditions among women in the UK Biobank, with little information on pre-diagnostic anthropometric traits, and by the susceptibility of MR estimates to genetic pleiotropy. Conclusions We found that common indices of overall and central obesity were associated with increased risks of reproductive disorders to heterogenous extents in a systematic, large-scale genetics-based analysis of the aetiological relationships between obesity and female reproductive conditions. Our results suggest the utility of exploring the mechanisms mediating the causal associations of overweight and obesity with gynaecological health to identify targets for disease prevention and treatment., Author(s): Samvida S. Venkatesh 1,2,*, Teresa Ferreira 1,3, Stefania Benonisdottir 1, Nilufer Rahmioglu 2,3, Christian M. Becker 3, Ingrid Granne 3, Krina T. Zondervan 2,3, Michael V. Holmes 4,5, Cecilia [...]

Published
2022
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7. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

Author

Oskarsson, Gudjon R., Oddsson, Asmundur, Magnusson, Magnus K., Kristjansson, Ragnar P., Halldorsson, Gisli H., Ferkingstad, Egil, Zink, Florian, Helgadottir, Anna, Ivarsdottir, Erna V., Arnadottir, Gudny A., Jensson, Brynjar O., Katrinardottir, Hildigunnur, Sveinbjornsson, Gardar, Kristinsdottir, Anna M., Lee, Amy L., Saemundsdottir, Jona, Stefansdottir, Lilja, Sigurdsson, Jon K., Davidsson, Olafur B., Benonisdottir, Stefania, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsson, Stefan, Gudmundsson, Reynir L., Asselbergs, Folkert W., Tragante, Vinicius, Gunnarsson, Bjarni, Masson, Gisli, Thorleifsson, Gudmar, Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T., Gudbjartsson, Daniel F., Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2020
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8. Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

Author

Olafsdottir, Thorunn A., Theodors, Fannar, Bjarnadottir, Kristbjorg, Bjornsdottir, Unnur Steina, Agustsdottir, Arna B., Stefansson, Olafur A., Ivarsdottir, Erna V., Sigurdsson, Jon K., Benonisdottir, Stefania, Eyjolfsson, Gudmundur I., Gislason, David, Gislason, Thorarinn, Guðmundsdóttir, Steinunn, Gylfason, Arnaldur, Halldorsson, Bjarni V., Halldorsson, Gisli H., Juliusdottir, Thorhildur, Kristinsdottir, Anna M., Ludviksdottir, Dora, Ludviksson, Bjorn R., Masson, Gisli, Norland, Kristjan, Onundarson, Pall T., Olafsson, Isleifur, Sigurdardottir, Olof, Stefansdottir, Lilja, Sveinbjornsson, Gardar, Tragante, Vinicius, Gudbjartsson, Daniel F., Thorleifsson, Gudmar, Sulem, Patrick, Thorsteinsdottir, Unnur, Norddahl, Gudmundur L., Jonsdottir, Ingileif, and Stefansson, Kari

Published
2020
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9. Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

Author

Styrkarsdottir, Unnur, Stefansson, Olafur A., Gunnarsdottir, Kristbjorg, Thorleifsson, Gudmar, Lund, Sigrun H., Stefansdottir, Lilja, Juliusson, Kristinn, Agustsdottir, Arna B., Zink, Florian, Halldorsson, Gisli H., Ivarsdottir, Erna V., Benonisdottir, Stefania, Jonsson, Hakon, Gylfason, Arnaldur, Norland, Kristjan, Trajanoska, Katerina, Boer, Cindy G., Southam, Lorraine, Leung, Jason C. S., Tang, Nelson L. S., Kwok, Timothy C. Y., Lee, Jenny S. W., Ho, Suzanne C., Byrjalsen, Inger, Center, Jacqueline R., Lee, Seung Hun, Koh, Jung-Min, Lohmander, L. Stefan, Ho-Pham, Lan T., Nguyen, Tuan V., Eisman, John A., Woo, Jean, Leung, Ping-C., Loughlin, John, Zeggini, Eleftheria, Christiansen, Claus, Rivadeneira, Fernando, van Meurs, Joyce, Uitterlinden, Andre G., Mogensen, Brynjolfur, Jonsson, Helgi, Ingvarsson, Thorvaldur, Sigurdsson, Gunnar, Benediktsson, Rafn, Sulem, Patrick, Jonsdottir, Ingileif, Masson, Gisli, Holm, Hilma, Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., and Stefansson, Kari

Published
2019
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10. GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

Author

Styrkarsdottir, Unnur, Stefansson, Olafur A., Gunnarsdottir, Kristbjorg, Thorleifsson, Gudmar, Lund, Sigrun H., Stefansdottir, Lilja, Juliusson, Kristinn, Agustsdottir, Arna B., Zink, Florian, Halldorsson, Gisli H., Ivarsdottir, Erna V., Benonisdottir, Stefania, Jonsson, Hakon, Gylfason, Arnaldur, Norland, Kristjan, Trajanoska, Katerina, Boer, Cindy G., Southam, Lorraine, Leung, Jason C. S., Tang, Nelson L. S., Kwok, Timothy C. Y., Lee, Jenny S. W., Ho, Suzanne C., Byrjalsen, Inger, Center, Jacqueline R., Lee, Seung Hun, Koh, Jung-Min, Lohmander, L. Stefan, Ho-Pham, Lan T., Nguyen, Tuan V., Eisman, John A., Woo, Jean, Leung, Ping-C., Loughlin, John, Zeggini, Eleftheria, Christiansen, Claus, Rivadeneira, Fernando, van Meurs, Joyce, Uitterlinden, Andre G., Mogensen, Brynjolfur, Jonsson, Helgi, Ingvarsson, Thorvaldur, Sigurdsson, Gunnar, Benediktsson, Rafn, Sulem, Patrick, Jonsdottir, Ingileif, Masson, Gisli, Holm, Hilma, Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., and Stefansson, Kari

Published
2019
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11. A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

Author

Bjornsdottir, Gyda, Ivarsdottir, Erna V., Bjarnadottir, Kristbjorg, Benonisdottir, Stefania, Gylfadottir, Sandra Sif, Arnadottir, Gudny A., Benediktsson, Rafn, Halldorsson, Gisli Hreinn, Helgadottir, Anna, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Jonsdottir, Ingileif, Kristinsdottir, Anna Margret, Magnusson, Olafur Th., Masson, Gisli, Melsted, Pall, Rafnar, Thorunn, Sigurdsson, Asgeir, Sigurdsson, Gunnar, Skuladottir, Astros, Steinthorsdottir, Valgerdur, Styrkarsdottir, Unnur, Thorgeirsson, Gudmundur, Thorleifsson, Gudmar, Vikingsson, Arnor, Gudbjartsson, Daniel F., Holm, Hilma, Stefansson, Hreinn, Thorsteinsdottir, Unnur, Norddahl, Gudmundur L., Sulem, Patrick, Thorgeirsson, Thorgeir E., and Stefansson, Kari

Published
2019
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12. Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density

Author

Ivarsdottir, Erna V., Benonisdottir, Stefania, Thorleifsson, Gudmar, Sulem, Patrick, Oddsson, Asmundur, Styrkarsdottir, Unnur, Kristmundsdottir, Snaedis, Arnadottir, Gudny A., Thorgeirsson, Gudmundur, Jonsdottir, Ingileif, Zoega, Gunnar M., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Jonasson, Fridbert, Holm, Hilma, and Stefansson, Kari

Published
2019
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13. Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

Author

Ferkingstad, Egil, Oddsson, Asmundur, Gretarsdottir, Solveig, Benonisdottir, Stefania, Thorleifsson, Gudmar, Deaton, Aimee M., Jonsson, Stefan, Stefansson, Olafur A., Norddahl, Gudmundur L., Zink, Florian, Arnadottir, Gudny A., Gunnarsson, Bjarni, Halldorsson, Gisli H., Helgadottir, Anna, Jensson, Brynjar O., Kristjansson, Ragnar P., Sveinbjornsson, Gardar, Sverrisson, David A., Masson, Gisli, Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Holm, Hilma, Jonsdottir, Ingileif, Olafsson, Sigurdur, Steingrimsdottir, Thora, Rafnar, Thorunn, Bjornsson, Einar S., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Sulem, Patrick, and Stefansson, Kari

Published
2018
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14. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

Author

Arnadottir, Gudny A., Norddahl, Gudmundur L., Gudmundsdottir, Steinunn, Agustsdottir, Arna B., Sigurdsson, Snaevar, Jensson, Brynjar O., Bjarnadottir, Kristbjorg, Theodors, Fannar, Benonisdottir, Stefania, Ivarsdottir, Erna V., Oddsson, Asmundur, Kristjansson, Ragnar P., Sulem, Gerald, Alexandersson, Kristjan F., Juliusdottir, Thorhildur, Gudmundsson, Kjartan R., Saemundsdottir, Jona, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Manzanillo, Paolo, Gudjonsson, Sigurjon A., Thorisson, Gudmundur A., Magnusson, Olafur Th., Masson, Gisli, Orvar, Kjartan B., Holm, Hilma, Bjornsson, Sigurdur, Arngrimsson, Reynir, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Haraldsson, Asgeir, Sulem, Patrick, and Stefansson, Kari

Published
2018
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15. A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

Author

Oskarsson, Gudjon R., Kristjansson, Ragnar P., Lee, Amy L., Sveinbjornsson, Gardar, Magnusson, Magnus K., Ivarsdottir, Erna V., Benonisdottir, Stefania, Oddsson, Asmundur, Davidsson, Olafur B., Saemundsdottir, Jona, Halldorsson, Gisli H., Arthur, Joseph, Arnadottir, Gudny A., Masson, Gisli, Jensson, Brynjar O., Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T., Gudbjartsson, Daniel F., Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2018
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16. A rare missense variant in NR1H4 associates with lower cholesterol levels

Author

Deaton, Aimee M., Sulem, Patrick, Nioi, Paul, Benonisdottir, Stefania, Ward, Lucas D., Davidsson, Olafur B., Lao, Socheata, Helgadottir, Anna, Fan, Fan, Jensson, Brynjar O., Norddahl, Gudmundur L., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Sigurdsson, Asgeir, Kristjansson, Ragnar P., Oddsson, Asmundur, Arnadottir, Gudny A., Jonsson, Hakon, Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Bjornsson, Einar S., Olafsson, Sigurdur, Steingrimsdottir, Thora, Rafnar, Thorunn, Thorgeirsson, Gudmundur, Masson, Gisli, Thorleifsson, Gudmar, Gudbjartsson, Daniel F., Holm, Hilma, Thorsteinsdottir, Unnur, and Stefansson, Kari

Published
2018
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17. Genetic insight into sick sinus syndrome

Author

Thorolfsdottir, Rosa B, Sveinbjornsson, Gardar, Aegisdottir, Hildur M, Benonisdottir, Stefania, Stefansdottir, Lilja, Ivarsdottir, Erna V, Halldorsson, Gisli H, Sigurdsson, Jon K, Torp-Pedersen, Christian, Weeke, Peter E, Brunak, Søren, Westergaard, David, Pedersen, Ole B., Sørensen, Erik, Nielsen, Kaspar R, Burgdorf, Kristoffer S., Banasik, Karina, Brumpton, Ben, Zhou, Wei, Oddsson, Asmundur, Tragante, Vinicius, Hjorleifsson, Kristjan E, Davidsson, Olafur B, Rajamani, Sridharan, Jonsson, Stefan, Torfason, Bjarni, Valgardsson, Atli S, Thorgeirsson, Gudmundur, Frigge, Michael L, Thorleifsson, Gudmar, Norddahl, Gudmundur L, Helgadottir, Anna, Gretarsdottir, Solveig, Sulem, Patrick, Jonsdottir, Ingileif, Willer, Cristen J, Hveem, Kristian, Bundgaard, Henning, Ullum, Henrik, Arnar, David O, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Holm, Hilma, Stefansson, Kari, Thorolfsdottir, Rosa B, Sveinbjornsson, Gardar, Aegisdottir, Hildur M, Benonisdottir, Stefania, Stefansdottir, Lilja, Ivarsdottir, Erna V, Halldorsson, Gisli H, Sigurdsson, Jon K, Torp-Pedersen, Christian, Weeke, Peter E, Brunak, Søren, Westergaard, David, Pedersen, Ole B., Sørensen, Erik, Nielsen, Kaspar R, Burgdorf, Kristoffer S., Banasik, Karina, Brumpton, Ben, Zhou, Wei, Oddsson, Asmundur, Tragante, Vinicius, Hjorleifsson, Kristjan E, Davidsson, Olafur B, Rajamani, Sridharan, Jonsson, Stefan, Torfason, Bjarni, Valgardsson, Atli S, Thorgeirsson, Gudmundur, Frigge, Michael L, Thorleifsson, Gudmar, Norddahl, Gudmundur L, Helgadottir, Anna, Gretarsdottir, Solveig, Sulem, Patrick, Jonsdottir, Ingileif, Willer, Cristen J, Hveem, Kristian, Bundgaard, Henning, Ullum, Henrik, Arnar, David O, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Holm, Hilma, and Stefansson, Kari

Abstract

AIMS: The aim of this study was to use human genetics to investigate the pathogenesis of sick sinus syndrome (SSS) and the role of risk factors in its development.METHODS AND RESULTS: We performed a genome-wide association study of 6469 SSS cases and 1 000 187 controls from deCODE genetics, the Copenhagen Hospital Biobank, UK Biobank, and the HUNT study. Variants at six loci associated with SSS, a reported missense variant in MYH6, known atrial fibrillation (AF)/electrocardiogram variants at PITX2, ZFHX3, TTN/CCDC141, and SCN10A and a low-frequency (MAF = 1.1-1.8%) missense variant, p.Gly62Cys in KRT8 encoding the intermediate filament protein keratin 8. A full genotypic model best described the p.Gly62Cys association (P = 1.6 × 10-20), with an odds ratio (OR) of 1.44 for heterozygotes and a disproportionally large OR of 13.99 for homozygotes. All the SSS variants increased the risk of pacemaker implantation. Their association with AF varied and p.Gly62Cys was the only variant not associating with any other arrhythmia or cardiovascular disease. We tested 17 exposure phenotypes in polygenic score (PGS) and Mendelian randomization analyses. Only two associated with the risk of SSS in Mendelian randomization, AF, and lower heart rate, suggesting causality. Powerful PGS analyses provided convincing evidence against causal associations for body mass index, cholesterol, triglycerides, and type 2 diabetes (P > 0.05).CONCLUSION: We report the associations of variants at six loci with SSS, including a missense variant in KRT8 that confers high risk in homozygotes and points to a mechanism specific to SSS development. Mendelian randomization supports a causal role for AF in the development of SSS.

Published
2021

18. Genetic insights into biological mechanisms governing human ovarian ageing

Author

Ruth, Katherine S., Day, Felix R., Hussain, Jazib, Martínez-Marchal, Ana, Aiken, Catherine E., Azad, Ajuna, Thompson, Deborah J., Knoblochova, Lucie, Abe, Hironori, Tarry-Adkins, Jane L., Martín-González, Javier, Fasching, Peter A., Faul, Jessica D., Ferrucci, Luigi, Franceschini, Nora, Frayling, Timothy M., Kitahara, Cari M., Gago-Dominguez, Manuela, Mezzavilla, Massimo, García-Closas, Montserrat, Sawyer, Elinor J., Grøndahl, Marie Louise, Gieger, Christian, Giles, Graham G., Grallert, Harald, Gudbjartsson, Daniel F., Gudnason, Vilmundur, Guénel, Pascal, Haiman, Christopher A., Kolcic, Ivana, Håkansson, Niclas, Hall, Per, Andersen, Claus Yding, Lin, Kuang, Hayward, Caroline, He, Chunyan, He, Wei, Heiss, Gerardo, Kooperberg, Charles, Kraft, Peter, Kurian, Allison W., Kutalik, Zoltan, Claringbould, Annique, Pujol, Anna, La Bianca, Martina, Høffding, Miya K., LaChance, Genevieve, Langenberg, Claudia, Launer, Lenore J., Laven, Joop S. E., Lawlor, Deborah A., Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, López-Contreras, Andrés J., Lindstrom, Sara, Bakker, Olivier B., Sarnowski, Chloé, Lindstrom, Tricia, Linet, Martha, Liu, YongMei, Liu, Simin, Luan, Jian’an, Mägi, Reedik, Magnusson, Patrik K. E., Daniel, Jeremy A., Mangino, Massimo, Mannermaa, Arto, Marco, Brumat, Schlessinger, David, Sulem, Patrick, Marten, Jonathan, Martin, Nicholas G., Mbarek, Hamdi, McKnight, Barbara, Medland, Sarah E., Olsen, Kristina W., Meisinger, Christa, Meitinger, Thomas, Menni, Cristina, Metspalu, Andres, Marjanka K. Schmidt, Milani, Lili, Walters, Robin G., Milne, Roger L., Montgomery, Grant W., Mook-Kanamori, Dennis O., Stefansson, Kari, Mulas, Antonella, Mulligan, Anna M., Murray, Alison, Nalls, Mike A., Newman, Anne, Schoemaker, Minouk J., Noordam, Raymond, Nutile, Teresa, Terao, Chikashi, Nyholt, Dale R., Chang-Claude, Jenny, Olshan, Andrew F., Olsson, Håkan, Painter, Jodie N., Patel, Alpa V., Pedersen, Nancy L., Perjakova, Natalia, Schraut, Katharina E., Peters, Annette, Peters, Ulrike, Pharoah, Paul D. P., Schouw, Yvonne T. van der, Turon, Sandra, Polasek, Ozren, Porcu, Eleonora, Psaty, Bruce M., Rahman, Iffat, Rennert, Gad, Rennert, Hedy S., Scott, Christopher, Ridker, Paul M., Ring, Susan M., John, Esther M., Robino, Antonietta, Rose, Lynda M., Horikoshi, Momoko, Rosendaal, Frits R., Shekari, Saleh, Shrikhande, Amruta, Smith, Albert V., Smith, Blair H., Hopper, John L., Onland-Moret, N. Charlotte, Rossouw, Jacques, Smith, Jennifer A., Sorice, Rossella, Southey, Melissa C., Spector, Tim D., Spinelli, John J., Stampfer, Meir, Stöckl, Doris, Meurs, Joyce B. J. van, Strauch, Konstantin, Hottenga, Jouke J., Lunetta, Kathryn L., Styrkarsdottir, Unnur, Sankar, Aditya, Swerdlow, Anthony J., Tanaka, Toshiko, Teras, Lauren R., Teumer, Alexander, Þorsteinsdottir, Unnur, Timpson, Nicholas J., Toniolo, Daniela, Traglia, Michela, Chasman, Daniel I., Hu, Frank, Troester, Melissa A., Truong, Thérèse, Thrane Hertz, Emil Peter, Tyrrell, Jessica, Uitterlinden, André G., Ulivi, Sheila, Vachon, Celine M., Vitart, Veronique, Völker, Uwe, Easton, Douglas F., Vollenweider, Peter, Hunter, David, Völzke, Henry, Wang, Qin, Wareham, Nicholas J., Timshel, Pascal N., Weinberg, Clarice R., Weir, David R., Amber N. Wilcox, Dijk, Ko Willems van, Visser, Jenny A., Willemsen, Gonneke, Wilson, James F., Ikram, Mohammad A., Wolffenbuttel, Bruce H. R., Wolk, Alicja, Wood, Andrew R., Zhao, Wei, Shukla, Vallari, Zygmunt, Marek, Biobank-based Integrative Omics Study (BIOS) Consortium, Ozanne, Susan E., eQTLGen Consortium, The Biobank Japan Project, China Kadoorie Biobank Collaborative Group, Jackson, Rebecca D., KConFab Investigators, The LifeLines Cohort Study, The InterAct consortium, Me Research Team, Chen, Zhengming, Borup, Rehannah, Namekawa, Satoshi H., Li, Liming, Franke, Lude, Burgess, Stephen, Deelen, Patrick, Joaquim, Micaella D. R., Pers, Tune H., Solc, Petr, Aguilera, Paula, Murabito, Joanne M., Ong, Ken K., Rudan, Igor, Joshi, Peter K., Hoffmann, Eva R., Murray, Anna, Roig, Ignasi, Perry, John R. B., Ferrer-Roda, Mònica, Huang, Yan, Stankovic, Stasa, Timmers, Paul R. H. J., Ahearn, Thomas U., Rueedi, Rico, Alizadeh, Behrooz Z., Fontanillas, Pierre, Naderi, Elnaz, Andrulis, Irene L., Arnold, Alice M., Aronson, Kristan J., Augustinsson, Annelie, Bandinelli, Stefania, Barbieri, Caterina M., Beaumont, Robin N., Ruggiero, Daniela, Becher, Heiko, Beckmann, Matthias W., Karasik, David, Benonisdottir, Stefania, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E., Bolla, Manjeet K., Boomsma, Dorret I., Sala, Cinzia F., Bowker, Nicholas, Brody, Jennifer A., Broer, Linda, Kardia, Sharon L. R., Buring, Julie E., Campbell, Archie, Campbell, Harry, Castelao, Jose E., Catamo, Eulalia, Chanock, Stephen J., Saloustros, Emmanouil, Chenevix-Trench, Georgia, Ciullo, Marina, Corre, Tanguy, Couch, Fergus J., Kartsonaki, Christiana, Cox, Angela, Crisponi, Laura, Cross, Simon S., Cucca, Francesco, Czene, Kamila, Sandler, Dale P., Smith, George Davey, Geus, Eco J. C. de, Mutsert, Renée de, De Vivo, Immaculata, Demerath, Ellen W., Karlsson, Robert, Dennis, Joe, Dunning, Alison M., Dwek, Miriam, Eriksson, Mikael, Sanna, Serena, Esko, Tonu, Ruth, Katherine S., Day, Felix R., Hussain, Jazib, Martínez-Marchal, Ana, Aiken, Catherine E., Azad, Ajuna, Thompson, Deborah J., Knoblochova, Lucie, Abe, Hironori, Tarry-Adkins, Jane L., Martín-González, Javier, Fasching, Peter A., Faul, Jessica D., Ferrucci, Luigi, Franceschini, Nora, Frayling, Timothy M., Kitahara, Cari M., Gago-Dominguez, Manuela, Mezzavilla, Massimo, García-Closas, Montserrat, Sawyer, Elinor J., Grøndahl, Marie Louise, Gieger, Christian, Giles, Graham G., Grallert, Harald, Gudbjartsson, Daniel F., Gudnason, Vilmundur, Guénel, Pascal, Haiman, Christopher A., Kolcic, Ivana, Håkansson, Niclas, Hall, Per, Andersen, Claus Yding, Lin, Kuang, Hayward, Caroline, He, Chunyan, He, Wei, Heiss, Gerardo, Kooperberg, Charles, Kraft, Peter, Kurian, Allison W., Kutalik, Zoltan, Claringbould, Annique, Pujol, Anna, La Bianca, Martina, Høffding, Miya K., LaChance, Genevieve, Langenberg, Claudia, Launer, Lenore J., Laven, Joop S. E., Lawlor, Deborah A., Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, López-Contreras, Andrés J., Lindstrom, Sara, Bakker, Olivier B., Sarnowski, Chloé, Lindstrom, Tricia, Linet, Martha, Liu, YongMei, Liu, Simin, Luan, Jian’an, Mägi, Reedik, Magnusson, Patrik K. E., Daniel, Jeremy A., Mangino, Massimo, Mannermaa, Arto, Marco, Brumat, Schlessinger, David, Sulem, Patrick, Marten, Jonathan, Martin, Nicholas G., Mbarek, Hamdi, McKnight, Barbara, Medland, Sarah E., Olsen, Kristina W., Meisinger, Christa, Meitinger, Thomas, Menni, Cristina, Metspalu, Andres, Marjanka K. Schmidt, Milani, Lili, Walters, Robin G., Milne, Roger L., Montgomery, Grant W., Mook-Kanamori, Dennis O., Stefansson, Kari, Mulas, Antonella, Mulligan, Anna M., Murray, Alison, Nalls, Mike A., Newman, Anne, Schoemaker, Minouk J., Noordam, Raymond, Nutile, Teresa, Terao, Chikashi, Nyholt, Dale R., Chang-Claude, Jenny, Olshan, Andrew F., Olsson, Håkan, Painter, Jodie N., Patel, Alpa V., Pedersen, Nancy L., Perjakova, Natalia, Schraut, Katharina E., Peters, Annette, Peters, Ulrike, Pharoah, Paul D. P., Schouw, Yvonne T. van der, Turon, Sandra, Polasek, Ozren, Porcu, Eleonora, Psaty, Bruce M., Rahman, Iffat, Rennert, Gad, Rennert, Hedy S., Scott, Christopher, Ridker, Paul M., Ring, Susan M., John, Esther M., Robino, Antonietta, Rose, Lynda M., Horikoshi, Momoko, Rosendaal, Frits R., Shekari, Saleh, Shrikhande, Amruta, Smith, Albert V., Smith, Blair H., Hopper, John L., Onland-Moret, N. Charlotte, Rossouw, Jacques, Smith, Jennifer A., Sorice, Rossella, Southey, Melissa C., Spector, Tim D., Spinelli, John J., Stampfer, Meir, Stöckl, Doris, Meurs, Joyce B. J. van, Strauch, Konstantin, Hottenga, Jouke J., Lunetta, Kathryn L., Styrkarsdottir, Unnur, Sankar, Aditya, Swerdlow, Anthony J., Tanaka, Toshiko, Teras, Lauren R., Teumer, Alexander, Þorsteinsdottir, Unnur, Timpson, Nicholas J., Toniolo, Daniela, Traglia, Michela, Chasman, Daniel I., Hu, Frank, Troester, Melissa A., Truong, Thérèse, Thrane Hertz, Emil Peter, Tyrrell, Jessica, Uitterlinden, André G., Ulivi, Sheila, Vachon, Celine M., Vitart, Veronique, Völker, Uwe, Easton, Douglas F., Vollenweider, Peter, Hunter, David, Völzke, Henry, Wang, Qin, Wareham, Nicholas J., Timshel, Pascal N., Weinberg, Clarice R., Weir, David R., Amber N. Wilcox, Dijk, Ko Willems van, Visser, Jenny A., Willemsen, Gonneke, Wilson, James F., Ikram, Mohammad A., Wolffenbuttel, Bruce H. R., Wolk, Alicja, Wood, Andrew R., Zhao, Wei, Shukla, Vallari, Zygmunt, Marek, Biobank-based Integrative Omics Study (BIOS) Consortium, Ozanne, Susan E., eQTLGen Consortium, The Biobank Japan Project, China Kadoorie Biobank Collaborative Group, Jackson, Rebecca D., KConFab Investigators, The LifeLines Cohort Study, The InterAct consortium, Me Research Team, Chen, Zhengming, Borup, Rehannah, Namekawa, Satoshi H., Li, Liming, Franke, Lude, Burgess, Stephen, Deelen, Patrick, Joaquim, Micaella D. R., Pers, Tune H., Solc, Petr, Aguilera, Paula, Murabito, Joanne M., Ong, Ken K., Rudan, Igor, Joshi, Peter K., Hoffmann, Eva R., Murray, Anna, Roig, Ignasi, Perry, John R. B., Ferrer-Roda, Mònica, Huang, Yan, Stankovic, Stasa, Timmers, Paul R. H. J., Ahearn, Thomas U., Rueedi, Rico, Alizadeh, Behrooz Z., Fontanillas, Pierre, Naderi, Elnaz, Andrulis, Irene L., Arnold, Alice M., Aronson, Kristan J., Augustinsson, Annelie, Bandinelli, Stefania, Barbieri, Caterina M., Beaumont, Robin N., Ruggiero, Daniela, Becher, Heiko, Beckmann, Matthias W., Karasik, David, Benonisdottir, Stefania, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E., Bolla, Manjeet K., Boomsma, Dorret I., Sala, Cinzia F., Bowker, Nicholas, Brody, Jennifer A., Broer, Linda, Kardia, Sharon L. R., Buring, Julie E., Campbell, Archie, Campbell, Harry, Castelao, Jose E., Catamo, Eulalia, Chanock, Stephen J., Saloustros, Emmanouil, Chenevix-Trench, Georgia, Ciullo, Marina, Corre, Tanguy, Couch, Fergus J., Kartsonaki, Christiana, Cox, Angela, Crisponi, Laura, Cross, Simon S., Cucca, Francesco, Czene, Kamila, Sandler, Dale P., Smith, George Davey, Geus, Eco J. C. de, Mutsert, Renée de, De Vivo, Immaculata, Demerath, Ellen W., Karlsson, Robert, Dennis, Joe, Dunning, Alison M., Dwek, Miriam, Eriksson, Mikael, Sanna, Serena, and Esko, Tonu

Abstract

Reproductive longevity is essential for fertility and influences healthy ageing in women, but insights into its underlying biological mechanisms and treatments to preserve it are limited. Here we identify 290 genetic determinants of ovarian ageing, assessed using normal variation in age at natural menopause (ANM) in about 200,000 women of European ancestry. These common alleles were associated with clinical extremes of ANM; women in the top 1% of genetic susceptibility have an equivalent risk of premature ovarian insufficiency to those carrying monogenic FMR1 premutations. The identified loci implicate a broad range of DNA damage response (DDR) processes and include loss-of-function variants in key DDR-associated genes. Integration with experimental models demonstrates that these DDR processes act across the life-course to shape the ovarian reserve and its rate of depletion. Furthermore, we demonstrate that experimental manipulation of DDR pathways highlighted by human genetics increases fertility and extends reproductive life in mice. Causal inference analyses using the identified genetic variants indicate that extending reproductive life in women improves bone health and reduces risk of type 2 diabetes, but increases the risk of hormone-sensitive cancers. These findings provide insight into the mechanisms that govern ovarian ageing, when they act, and how they might be targeted by therapeutic approaches to extend fertility and prevent disease.

Published
2021

19. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

Author

Team Medisch, Circulatory Health, Onderzoek Precision medicine, Oskarsson, Gudjon R, Oddsson, Asmundur, Magnusson, Magnus K, Kristjansson, Ragnar P, Halldorsson, Gisli H, Ferkingstad, Egil, Zink, Florian, Helgadottir, Anna, Ivarsdottir, Erna V, Arnadottir, Gudny A, Jensson, Brynjar O, Katrinardottir, Hildigunnur, Sveinbjornsson, Gardar, Kristinsdottir, Anna M, Lee, Amy L, Saemundsdottir, Jona, Stefansdottir, Lilja, Sigurdsson, Jon K, Davidsson, Olafur B, Benonisdottir, Stefania, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsson, Stefan, Gudmundsson, Reynir L, Asselbergs, Folkert W, Tragante, Vinicius, Gunnarsson, Bjarni, Masson, Gisli, Thorleifsson, Gudmar, Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T, Gudbjartsson, Daniel F, Norddahl, Gudmundur L, Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari, Team Medisch, Circulatory Health, Onderzoek Precision medicine, Oskarsson, Gudjon R, Oddsson, Asmundur, Magnusson, Magnus K, Kristjansson, Ragnar P, Halldorsson, Gisli H, Ferkingstad, Egil, Zink, Florian, Helgadottir, Anna, Ivarsdottir, Erna V, Arnadottir, Gudny A, Jensson, Brynjar O, Katrinardottir, Hildigunnur, Sveinbjornsson, Gardar, Kristinsdottir, Anna M, Lee, Amy L, Saemundsdottir, Jona, Stefansdottir, Lilja, Sigurdsson, Jon K, Davidsson, Olafur B, Benonisdottir, Stefania, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsson, Stefan, Gudmundsson, Reynir L, Asselbergs, Folkert W, Tragante, Vinicius, Gunnarsson, Bjarni, Masson, Gisli, Thorleifsson, Gudmar, Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T, Gudbjartsson, Daniel F, Norddahl, Gudmundur L, Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2020

20. Sequence variants associating with urinary biomarkers

Author

Onderzoek Precision medicine, Circulatory Health, Team Medisch, Benonisdottir, Stefania, Kristjansson, Ragnar P, Oddsson, Asmundur, Steinthorsdottir, Valgerdur, Mikaelsdottir, Evgenia, Kehr, Birte, Jensson, Brynjar O, Arnadottir, Gudny A, Sulem, Gerald, Sveinbjornsson, Gardar, Kristmundsdottir, Snaedis, Ivarsdottir, Erna V, Vogel, Lotte K, Tragante, Vinicius, Gunnarsson, Bjarni, Runolfsdottir, Hrafnhildur Linnet, Arthur, Joseph G, Deaton, Aimee M, Eyjolfsson, Gudmundur I, Davidsson, Olafur B, Asselbergs, Folkert W, Hreidarsson, Astradur B, Rafnar, Thorunn, Thorleifsson, Gudmar, Edvardsson, Vidar, Sigurdsson, Gunnar, Helgadottir, Anna, Halldorsson, Bjarni V, Masson, Gisli, Holm, Hilma, Onundarson, Pall T, Indridason, Olafur S, Benediktsson, Rafn, Palsson, Runolfur, Gudbjartsson, Daniel F, Olafsson, Isleifur, Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari, Onderzoek Precision medicine, Circulatory Health, Team Medisch, Benonisdottir, Stefania, Kristjansson, Ragnar P, Oddsson, Asmundur, Steinthorsdottir, Valgerdur, Mikaelsdottir, Evgenia, Kehr, Birte, Jensson, Brynjar O, Arnadottir, Gudny A, Sulem, Gerald, Sveinbjornsson, Gardar, Kristmundsdottir, Snaedis, Ivarsdottir, Erna V, Vogel, Lotte K, Tragante, Vinicius, Gunnarsson, Bjarni, Runolfsdottir, Hrafnhildur Linnet, Arthur, Joseph G, Deaton, Aimee M, Eyjolfsson, Gudmundur I, Davidsson, Olafur B, Asselbergs, Folkert W, Hreidarsson, Astradur B, Rafnar, Thorunn, Thorleifsson, Gudmar, Edvardsson, Vidar, Sigurdsson, Gunnar, Helgadottir, Anna, Halldorsson, Bjarni V, Masson, Gisli, Holm, Hilma, Onundarson, Pall T, Indridason, Olafur S, Benediktsson, Rafn, Palsson, Runolfur, Gudbjartsson, Daniel F, Olafsson, Isleifur, Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2019

21. Additional file 2: Table S1. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Subjects
population characteristics, macromolecular substances, geographic locations, humanities
Abstract

Pulmonary function test results from the three affected Icelanders with several years passing between the two tests. (DOCX 13Â kb)

Published
2017
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22. Additional file 5: Table S2. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Abstract

Additional clinical features. Autoimmune and rheumatological features as well as antibody titers for the three patients. The medications and general measures taken to treat the patients are listed. (DOCX 13Â kb)

Published
2017
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23. Additional file 8: Table S3. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Subjects
population characteristics, respiratory system, geographic locations, humanities
Abstract

COPA mutation. Summary of the causative mutation causing the lung disease in the Icelandic family. (DOCX 19Â kb)

Published
2017
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24. Additional file 10: Table S5. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Abstract

Coding variants with MAFÂ

Published
2017
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25. Additional file 4: Figure S3. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Subjects
respiratory system, respiratory tract diseases
Abstract

Lung biopsy section from the daughter of the index case (III-2) stained with hematoxylin and eosin. Multiple lymphoid follicles in the interstitium and adjacent to airways (arrow). (DOCX 856Â kb)

Published
2017
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26. Additional file 6: Supplementary Information. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Abstract

Detailed description of methods (sample preparation, whole-genome sequencing, alignment, variant calling and annotation) and the genetic analysis performed in this study (Additional file 10: Table S5). (DOCX 23 kb)

Published
2017
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27. Additional file 3: Figure S2. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Subjects
respiratory system
Abstract

Lung biopsy section from the son of the index case (III-1) stained with hematoxylin and eosin. Multiple lymphoid follicles in the pulmonary interstitium and adjacent to a terminal bronchiole (arrow). (DOCX 906Â kb)

Published
2017
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28. Additional file 7: Figure S4. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Abstract

Variant filtering flowchart. We detected an average of 4,942,809 coding and non-coding variants per affected member of the family. Sixteen variants with MAF

Published
2017
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29. Additional file 9: Table S4. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Abstract

Sequencing data metrics for the COPA mutation. The call ratios of the COPA mutation for the index case, affected son and daughter, and unaffected husband, mother, and father from the WGS data. Additionally, the Sanger sequencing genotypes for the three siblings of the index case are listed. (DOCX 13Â kb)

Published
2017
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30. Sequence variants associating with urinary biomarkers

Author

Benonisdottir, Stefania, primary, Kristjansson, Ragnar P, additional, Oddsson, Asmundur, additional, Steinthorsdottir, Valgerdur, additional, Mikaelsdottir, Evgenia, additional, Kehr, Birte, additional, Jensson, Brynjar O, additional, Arnadottir, Gudny A, additional, Sulem, Gerald, additional, Sveinbjornsson, Gardar, additional, Kristmundsdottir, Snaedis, additional, Ivarsdottir, Erna V, additional, Tragante, Vinicius, additional, Gunnarsson, Bjarni, additional, Runolfsdottir, Hrafnhildur Linnet, additional, Arthur, Joseph G, additional, Deaton, Aimee M, additional, Eyjolfsson, Gudmundur I, additional, Davidsson, Olafur B, additional, Asselbergs, Folkert W, additional, Hreidarsson, Astradur B, additional, Rafnar, Thorunn, additional, Thorleifsson, Gudmar, additional, Edvardsson, Vidar, additional, Sigurdsson, Gunnar, additional, Helgadottir, Anna, additional, Halldorsson, Bjarni V, additional, Masson, Gisli, additional, Holm, Hilma, additional, Onundarson, Pall T, additional, Indridason, Olafur S, additional, Benediktsson, Rafn, additional, Palsson, Runolfur, additional, Gudbjartsson, Daniel F, additional, Olafsson, Isleifur, additional, Thorsteinsdottir, Unnur, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional

Published
2018
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31. Identification of Lynch syndrome risk variants in the Romanian population

Author

Iordache, Paul D., primary, Mates, Dana, additional, Gunnarsson, Bjarni, additional, Eggertsson, Hannes P., additional, Sulem, Patrick, additional, Benonisdottir, Stefania, additional, Csiki, Irma Eva, additional, Rascu, Stefan, additional, Radavoi, Daniel, additional, Ursu, Radu, additional, Staicu, Catalin, additional, Calota, Violeta, additional, Voinoiu, Angelica, additional, Jinga, Mariana, additional, Rosoga, Gabriel, additional, Danau, Razvan, additional, Sima, Sorin Cristian, additional, Badescu, Daniel, additional, Suciu, Nicoleta, additional, Radoi, Viorica, additional, Mates, Ioan Nicolae, additional, Dobra, Mihai, additional, Nicolae, Camelia, additional, Kristjansdottir, Sigrun, additional, Jonasson, Jon G., additional, Manolescu, Andrei, additional, Arnadottir, Gudny, additional, Jensson, Brynjar, additional, Jonasdottir, Aslaug, additional, Sigurdsson, Asgeir, additional, le Roux, Louise, additional, Johannsdottir, Hrefna, additional, Rafnar, Thorunn, additional, Halldorsson, Bjarni V., additional, Jinga, Viorel, additional, and Stefansson, Kari, additional

Published
2018
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32. COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar O., primary, Hansdottir, Sif, additional, Arnadottir, Gudny A., additional, Sulem, Gerald, additional, Kristjansson, Ragnar P., additional, Oddsson, Asmundur, additional, Benonisdottir, Stefania, additional, Jonsson, Hakon, additional, Helgason, Agnar, additional, Saemundsdottir, Jona, additional, Magnusson, Olafur T., additional, Masson, Gisli, additional, Thorisson, Gudmundur A., additional, Jonasdottir, Adalbjorg, additional, Jonasdottir, Aslaug, additional, Sigurdsson, Asgeir, additional, Jonsdottir, Ingileif, additional, Petursdottir, Vigdis, additional, Kristinsson, Jon R., additional, Gudbjartsson, Daniel F., additional, Thorsteinsdottir, Unnur, additional, Arngrimsson, Reynir, additional, Sulem, Patrick, additional, Gudmundsson, Gunnar, additional, and Stefansson, Kari, additional

Published
2017
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33. Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

Author

Arnadottir, Gudny A., primary, Jensson, Brynjar O., additional, Marelsson, Sigurdur E., additional, Sulem, Gerald, additional, Oddsson, Asmundur, additional, Kristjansson, Ragnar P., additional, Benonisdottir, Stefania, additional, Gudjonsson, Sigurjon A., additional, Masson, Gisli, additional, Thorisson, Gudmundur A., additional, Saemundsdottir, Jona, additional, Magnusson, Olafur Th., additional, Jonasdottir, Adalbjorg, additional, Jonasdottir, Aslaug, additional, Sigurdsson, Asgeir, additional, Gudbjartsson, Daniel F., additional, Thorsteinsdottir, Unnur, additional, Arngrimsson, Reynir, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional

Published
2017
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34. A Missense Variant in PLEC Increases Risk of Atrial Fibrillation

Author

Thorolfsdottir, Rosa B., primary, Sveinbjornsson, Gardar, additional, Sulem, Patrick, additional, Helgadottir, Anna, additional, Gretarsdottir, Solveig, additional, Benonisdottir, Stefania, additional, Magnusdottir, Audur, additional, Davidsson, Olafur B., additional, Rajamani, Sridharan, additional, Roden, Dan M., additional, Darbar, Dawood, additional, Pedersen, Terje R., additional, Sabatine, Marc S., additional, Jonsdottir, Ingileif, additional, Arnar, David O., additional, Thorsteinsdottir, Unnur, additional, Gudbjartsson, Daniel F., additional, Holm, Hilma, additional, and Stefansson, Kari, additional

Published
2017
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35. Sequence variant at 4q25 near PITX2 associates with appendicitis

Author

Kristjansson, Ragnar P., primary, Benonisdottir, Stefania, additional, Oddsson, Asmundur, additional, Galesloot, Tessel E., additional, Thorleifsson, Gudmar, additional, Aben, Katja K., additional, Davidsson, Olafur B., additional, Jonsson, Stefan, additional, Arnadottir, Gudny A., additional, Jensson, Brynjar O., additional, Walters, G. Bragi, additional, Sigurdsson, Jon K., additional, Sigurdsson, Snaevar, additional, Holm, Hilma, additional, Arnar, David O., additional, Thorgeirsson, Gudmundur, additional, Alexiusdottir, Kristin, additional, Jonsdottir, Ingileif, additional, Thorsteinsdottir, Unnur, additional, Kiemeney, Lambertus A., additional, Jonsson, Thorvaldur, additional, Gudbjartsson, Daniel F., additional, Rafnar, Thorunn, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional

Published
2017
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36. Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation

Author

Bjornsdottir, Gyda, primary, Benonisdottir, Stefania, additional, Sveinbjornsson, Gardar, additional, Styrkarsdottir, Unnur, additional, Thorleifsson, Gudmar, additional, Walters, G. Bragi, additional, Bjornsson, Aron, additional, Olafsson, Ingvar H., additional, Ulfarsson, Elfar, additional, Vikingsson, Arnor, additional, Hansdottir, Ragnheidur, additional, Karlsson, Karl O., additional, Rafnar, Thorunn, additional, Jonsdottir, Ingileif, additional, Frigge, Michael L., additional, Kong, Augustine, additional, Oddsson, Asmundur, additional, Masson, Gisli, additional, Magnusson, Olafur T., additional, Gudbjartsson, Tomas, additional, Stefansson, Hreinn, additional, Sulem, Patrick, additional, Gudbjartsson, Daniel, additional, Thorsteinsdottir, Unnur, additional, Thorgeirsson, Thorgeir E., additional, and Stefansson, Kari, additional

Published
2017
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37. Sequence variants associating with urinary biomarkers.

Author

Benonisdottir, Stefania, Kristjansson, Ragnar P, Oddsson, Asmundur, Steinthorsdottir, Valgerdur, Mikaelsdottir, Evgenia, Kehr, Birte, Jensson, Brynjar O, Arnadottir, Gudny A, Sulem, Gerald, Sveinbjornsson, Gardar, Kristmundsdottir, Snaedis, Ivarsdottir, Erna V, Tragante, Vinicius, Gunnarsson, Bjarni, Runolfsdottir, Hrafnhildur Linnet, Arthur, Joseph G, Deaton, Aimee M, Eyjolfsson, Gudmundur I, Davidsson, Olafur B, and Asselbergs, Folkert W

Published
2019
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38. Epigenetic and genetic components of height regulation

Author

Benonisdottir, Stefania, primary, Oddsson, Asmundur, additional, Helgason, Agnar, additional, Kristjansson, Ragnar P., additional, Sveinbjornsson, Gardar, additional, Oskarsdottir, Arna, additional, Thorleifsson, Gudmar, additional, Davidsson, Olafur B., additional, Arnadottir, Gudny A., additional, Sulem, Gerald, additional, Jensson, Brynjar O., additional, Holm, Hilma, additional, Alexandersson, Kristjan F., additional, Tryggvadottir, Laufey, additional, Walters, G. Bragi, additional, Gudjonsson, Sigurjon A., additional, Ward, Lucas D., additional, Sigurdsson, Jon K., additional, Iordache, Paul D., additional, Frigge, Michael L., additional, Rafnar, Thorunn, additional, Kong, Augustine, additional, Masson, Gisli, additional, Helgason, Hannes, additional, Thorsteinsdottir, Unnur, additional, Gudbjartsson, Daniel F., additional, Sulem, Patrick, additional, and Stefansson, Kari, additional

Published
2016
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39. Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

Author

Kristjansson, Ragnar P., primary, Oddsson, Asmundur, additional, Helgason, Hannes, additional, Sveinbjornsson, Gardar, additional, Arnadottir, Gudny A., additional, Jensson, Brynjar O., additional, Jonasdottir, Aslaug, additional, Jonasdottir, Adalbjorg, additional, Bragi Walters, G., additional, Sulem, Gerald, additional, Oskarsdottir, Arna, additional, Benonisdottir, Stefania, additional, Davidsson, Olafur B., additional, Masson, Gisli, additional, Th Magnusson, Olafur, additional, Holm, Hilma, additional, Sigurdardottir, Olof, additional, Jonsdottir, Ingileif, additional, Eyjolfsson, Gudmundur I., additional, Olafsson, Isleifur, additional, Gudbjartsson, Daniel F., additional, Thorsteinsdottir, Unnur, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional

Published
2016
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40. Statistical Approach to Relatedness Analysis in Large Collections of Genetic Profiles. An Application to a DNA-Registry of Fin Whales

Author

Benonisdottir, Stefania

Subjects
statistics, genetics, LOD score, FDR
Abstract

The present study utilized data from an Icelandic DNA-registry of fin whales by searching for pairs of relatives with a statistical approach. Three types of relatedness were of interest, half-siblings, parent-offspring and first cousins. Detection of relatives was done by computing pairwise LOD scores for the individuals in the sample for each relatedness of interest. The corresponding p-values for each LOD score were estimated by comparing the original LOD scores with LOD scores of simulated unrelated individuals. Due to very high number of pairwise comparisons, adjustment for multiple testing was necessary. Two well known multiple adjusting methods were applied and compared, the Bonferroni correction and the FDR procedure. The FDR procedure was found to be more suitable for this analysis since the Bonferroni procedure was too conservative for such a high number of LOD scores. Eight pairs of relatives were detected within the sample. When information about age and age of maturity had been taken into account, three of those pairs were classified as a parent-offspring pair and five were classified as half-siblings. One of the detected parent-offspring pairs were a male fin whale and a foetus, also detected as a father-offspring pair in a previous study. Master i Statistikk MAMN-STAT STAT399

Published
2012

41. Genetic insight into sick sinus syndrome.

Author

Thorolfsdottir RB, Sveinbjornsson G, Aegisdottir HM, Benonisdottir S, Stefansdottir L, Ivarsdottir EV, Halldorsson GH, Sigurdsson JK, Torp-Pedersen C, Weeke PE, Brunak S, Westergaard D, Pedersen OB, Sorensen E, Nielsen KR, Burgdorf KS, Banasik K, Brumpton B, Zhou W, Oddsson A, Tragante V, Hjorleifsson KE, Davidsson OB, Rajamani S, Jonsson S, Torfason B, Valgardsson AS, Thorgeirsson G, Frigge ML, Thorleifsson G, Norddahl GL, Helgadottir A, Gretarsdottir S, Sulem P, Jonsdottir I, Willer CJ, Hveem K, Bundgaard H, Ullum H, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Holm H, and Stefansson K

Subjects
Genome-Wide Association Study, Humans, NAV1.8 Voltage-Gated Sodium Channel, Sick Sinus Syndrome genetics, Atrial Fibrillation genetics, Diabetes Mellitus, Type 2, Pacemaker, Artificial
Abstract

Aims: The aim of this study was to use human genetics to investigate the pathogenesis of sick sinus syndrome (SSS) and the role of risk factors in its development., Methods and Results: We performed a genome-wide association study of 6469 SSS cases and 1 000 187 controls from deCODE genetics, the Copenhagen Hospital Biobank, UK Biobank, and the HUNT study. Variants at six loci associated with SSS, a reported missense variant in MYH6, known atrial fibrillation (AF)/electrocardiogram variants at PITX2, ZFHX3, TTN/CCDC141, and SCN10A and a low-frequency (MAF = 1.1-1.8%) missense variant, p.Gly62Cys in KRT8 encoding the intermediate filament protein keratin 8. A full genotypic model best described the p.Gly62Cys association (P = 1.6 × 10-20), with an odds ratio (OR) of 1.44 for heterozygotes and a disproportionally large OR of 13.99 for homozygotes. All the SSS variants increased the risk of pacemaker implantation. Their association with AF varied and p.Gly62Cys was the only variant not associating with any other arrhythmia or cardiovascular disease. We tested 17 exposure phenotypes in polygenic score (PGS) and Mendelian randomization analyses. Only two associated with the risk of SSS in Mendelian randomization, AF, and lower heart rate, suggesting causality. Powerful PGS analyses provided convincing evidence against causal associations for body mass index, cholesterol, triglycerides, and type 2 diabetes (P > 0.05)., Conclusion: We report the associations of variants at six loci with SSS, including a missense variant in KRT8 that confers high risk in homozygotes and points to a mechanism specific to SSS development. Mendelian randomization supports a causal role for AF in the development of SSS., (© The Author(s) 2021. Published by Oxford University Press on behalf of the European Society of Cardiology.)

Published
2021
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