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Start Over Author "Benonisdottir, Stefania" Journal nature genetics
4 results on '"Benonisdottir, Stefania"'

1. 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. A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis

Author

Kristjansson, Ragnar P., Benonisdottir, Stefania, Davidsson, Olafur B., Oddsson, Asmundur, Tragante, Vinicius, Sigurdsson, Jon K., Stefansdottir, Lilja, Jonsson, Stefan, Jensson, Brynjar O., Arthur, Joseph G., Arnadottir, Gudny A., Sulem, Gerald, Halldorsson, Bjarni V., Gunnarsson, Bjarni, Halldorsson, Gisli H., Stefansson, Olafur A., Oskarsson, Gudjon R., Deaton, Aimee M., Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Onundarson, Pall T., Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn R., Ludviksdottir, Dora, Olafsdottir, Thorunn A., Rafnar, Thorunn, Masson, Gisli, Zink, Florian, Bjornsdottir, Gyda, Magnusson, Olafur Th., Bjornsdottir, Unnur S., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, and Stefansson, Kari

Published
2019
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4. A loss-of-function variant in ALOX15protects against nasal polyps and chronic rhinosinusitis

Author

Kristjansson, Ragnar P., Benonisdottir, Stefania, Davidsson, Olafur B., Oddsson, Asmundur, Tragante, Vinicius, Sigurdsson, Jon K., Stefansdottir, Lilja, Jonsson, Stefan, Jensson, Brynjar O., Arthur, Joseph G., Arnadottir, Gudny A., Sulem, Gerald, Halldorsson, Bjarni V., Gunnarsson, Bjarni, Halldorsson, Gisli H., Stefansson, Olafur A., Oskarsson, Gudjon R., Deaton, Aimee M., Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Onundarson, Pall T., Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn R., Ludviksdottir, Dora, Olafsdottir, Thorunn A., Rafnar, Thorunn, Masson, Gisli, Zink, Florian, Bjornsdottir, Gyda, Magnusson, Olafur Th., Bjornsdottir, Unnur S., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, and Stefansson, Kari

Abstract

Nasal polyps (NP) are lesions on the nasal and paranasal sinus mucosa and are a risk factor for chronic rhinosinusitis (CRS). We performed genome-wide association studies on NP and CRS in Iceland and the UK (using UK Biobank data) with 4,366 NP cases, 5,608 CRS cases, and >700,000 controls. We found 10 markers associated with NP and 2 with CRS. We also tested 210 markers reported to associate with eosinophil count, yielding 17 additional NP associations. Of the 27 NP signals, 7 associate with CRS and 13 with asthma. Most notably, a missense variant in ALOX15that causes a p.Thr560Met alteration in arachidonate 15-lipoxygenase (15-LO) confers large genome-wide significant protection against NP (P=8.0 × 10−27, odds ratio = 0.32; 95% confidence interval = 0.26, 0.39) and CRS (P=1.1 × 10−8, odds ratio = 0.64; 95% confidence interval = 0.55, 0.75). p.Thr560Met, carried by around 1 in 20 Europeans, was previously shown to cause near total loss of 15-LO enzymatic activity. Our findings identify 15-LO as a potential target for therapeutic intervention in NP and CRS.

Published
2019
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