{"entity": "journal", "iuid": "1dac1bedbf0e43b89323942d7bb481db", "timestamp": "2026-07-17T08:29:39.161Z", "links": {"self": {"href": "https://publications.scilifelab.se/journal/Twin%20Res%20Hum%20Genet.json"}, "display": {"href": "https://publications.scilifelab.se/journal/Twin%20Res%20Hum%20Genet"}}, "title": "Twin Res Hum Genet", "issn": "1839-2628", "issn-l": "1832-4274", "publications_count": 10, "publications": [{"entity": "publication", "iuid": "9f3923247c3f4c54b3329134efcad30c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/9f3923247c3f4c54b3329134efcad30c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/9f3923247c3f4c54b3329134efcad30c"}}, "title": "The Babytwins Study Sweden (BATSS): A Multi-Method Infant Twin Study of Genetic and Environmental Factors Influencing Infant Brain and Behavioral Development.", "authors": [{"family": "Falck-Ytter", "given": "Terje", "initials": "T"}, {"family": "Hamrefors", "given": "Linnea", "initials": "L"}, {"family": "Siqueiros Sanches", "given": "Monica", "initials": "M"}, {"family": "Portugal", "given": "Ana Maria", "initials": "AM"}, {"family": "Taylor", "given": "Mark", "initials": "M"}, {"family": "Li", "given": "Danyang", "initials": "D"}, {"family": "Viktorsson", "given": "Charlotte", "initials": "C"}, {"family": "Hardiansyah", "given": "Irzam", "initials": "I"}, {"family": "Myers", "given": "Lynnea", "initials": "L"}, {"family": "Westberg", "given": "Lars", "initials": "L"}, {"family": "B\u00f6lte", "given": "Sven", "initials": "S"}, {"family": "Tammimies", "given": "Kristiina", "initials": "K"}, {"family": "Ronald", "given": "Angelica", "initials": "A"}], "type": "journal article", "published": "2021-08-00", "journal": {"title": "Twin Res Hum Genet", "issn": "1832-4274", "volume": "24", "issue": "4", "pages": "217-227", "issn-l": null}, "abstract": "Twin studies can help us understand the relative contributions of genes and environment to phenotypic trait variation, including attentional and brain activation measures. In terms of applying methodologies such as electroencephalography (EEG) and eye tracking, which are key methods in developmental neuroscience, infant twin studies are almost nonexistent. Here, we describe the Babytwins Study Sweden (BATSS), a multi-method longitudinal twin study of 177 MZ and 134 DZ twin pairs (i.e., 622 individual infants) covering the 5-36 month time period. The study includes EEG, eye tracking and genetics, together with more traditional measures based on in-person testing, direct observation and questionnaires. The results show that interest in participation in research among twin parents is high, despite the comprehensive protocol. DNA analysis from saliva samples was possible in virtually all participants, allowing for both zygosity confirmation and polygenic score analyses. Combining a longitudinal twin design with advanced technologies in developmental cognitive neuroscience and genomics, BATSS represents a new approach in infancy research, which we hope to have impact across multiple disciplines in the coming years.", "doi": "10.1017/thg.2021.34", "pmid": "34521499", "labels": {"Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "S1832427421000347"}], "notes": [], "created": "2022-11-09T15:49:46.370Z", "modified": "2024-01-16T13:48:38.926Z"}, {"entity": "publication", "iuid": "4a17548e14a9443faef15b5e0f5a9e78", "links": {"self": {"href": "https://publications.scilifelab.se/publication/4a17548e14a9443faef15b5e0f5a9e78.json"}, "display": {"href": "https://publications.scilifelab.se/publication/4a17548e14a9443faef15b5e0f5a9e78"}}, "title": "The Swedish Twin Registry: Content and Management as a Research Infrastructure.", "authors": [{"family": "Zagai", "given": "Ulrika", "initials": "U"}, {"family": "Lichtenstein", "given": "Paul", "initials": "P"}, {"family": "Pedersen", "given": "Nancy L", "initials": "NL"}, {"family": "Magnusson", "given": "Patrik K E", "initials": "PKE"}], "type": "journal article", "published": "2019-11-21", "journal": {"volume": null, "issn": "1832-4274", "issue": null, "pages": "1-9", "title": "Twin Res Hum Genet", "issn-l": null}, "abstract": "The Swedish Twin Registry functions as research infrastructure containing information on 216,258 twins born between 1886 and 2015, of whom 86,199 pairs have zygosity determined by DNA, an intrapair similarity algorithm, or being of opposite sex. In essence, practically all twins alive and currently 9 years or older have been invited for participation and donation of DNA on which genomewide single nucleotide polymorphisms array genotyping has been performed. Content, management and alternatives for future improvements are discussed.", "doi": "10.1017/thg.2019.99", "pmid": "31747977", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "S1832427419000999"}], "notes": [], "created": "2019-11-28T07:41:35.824Z", "modified": "2024-01-16T13:48:43.476Z"}, {"entity": "publication", "iuid": "67dee8a179784e9e8426f44dfcab95be", "links": {"self": {"href": "https://publications.scilifelab.se/publication/67dee8a179784e9e8426f44dfcab95be.json"}, "display": {"href": "https://publications.scilifelab.se/publication/67dee8a179784e9e8426f44dfcab95be"}}, "title": "IGEMS: The Consortium on Interplay of Genes and Environment Across Multiple Studies - An Update.", "authors": [{"family": "Pedersen", "given": "Nancy L", "initials": "NL"}, {"family": "Gatz", "given": "Margaret", "initials": "M"}, {"family": "Finch", "given": "Brian K", "initials": "BK"}, {"family": "Finkel", "given": "Deborah", "initials": "D"}, {"family": "Butler", "given": "David A", "initials": "DA"}, {"family": "Dahl Aslan", "given": "Anna", "initials": "A"}, {"family": "Franz", "given": "Carol E", "initials": "CE"}, {"family": "Kaprio", "given": "Jaakko", "initials": "J"}, {"family": "Lapham", "given": "Susan", "initials": "S"}, {"family": "McGue", "given": "Matt", "initials": "M"}, {"family": "Mosing", "given": "Miriam A", "initials": "MA"}, {"family": "Neiderhiser", "given": "Jenae", "initials": "J"}, {"family": "Nygaard", "given": "Marianne", "initials": "M"}, {"family": "Panizzon", "given": "Matthew", "initials": "M"}, {"family": "Prescott", "given": "Carol A", "initials": "CA"}, {"family": "Reynolds", "given": "Chandra A", "initials": "CA"}, {"family": "Sachdev", "given": "Perminder", "initials": "P"}, {"family": "Whitfield", "given": "Keith E", "initials": "KE"}], "type": "journal article", "published": "2019-09-23", "journal": {"volume": null, "issn": "1832-4274", "issue": null, "pages": "1-8", "title": "Twin Res Hum Genet", "issn-l": null}, "abstract": "The Interplay of Genes and Environment across Multiple Studies (IGEMS) is a consortium of 18 twin studies from 5 different countries (Sweden, Denmark, Finland, United States, and Australia) established to explore the nature of gene-environment (GE) interplay in functioning across the adult lifespan. Fifteen of the studies are longitudinal, with follow-up as long as 59 years after baseline. The combined data from over 76,000 participants aged 14-103 at intake (including over 10,000 monozygotic and over 17,000 dizygotic twin pairs) support two primary research emphases: (1) investigation of models of GE interplay of early life adversity, and social factors at micro and macro environmental levels and with diverse outcomes, including mortality, physical functioning and psychological functioning; and (2) improved understanding of risk and protective factors for dementia by incorporating unmeasured and measured genetic factors with a wide range of exposures measured in young adulthood, midlife and later life.", "doi": "10.1017/thg.2019.76", "pmid": "31544729", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "S1832427419000768"}], "notes": [], "created": "2019-09-26T06:48:23.532Z", "modified": "2020-01-21T13:56:14.597Z"}, {"entity": "publication", "iuid": "1bfae6637d204721b3b70e933a093325", "links": {"self": {"href": "https://publications.scilifelab.se/publication/1bfae6637d204721b3b70e933a093325.json"}, "display": {"href": "https://publications.scilifelab.se/publication/1bfae6637d204721b3b70e933a093325"}}, "title": "Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.", "authors": [{"family": "Stamouli", "given": "Sofia", "initials": "S"}, {"family": "Anderlid", "given": "Britt-Marie", "initials": "BM"}, {"family": "Willfors", "given": "Charlotte", "initials": "C"}, {"family": "Thiruvahindrapuram", "given": "Bhooma", "initials": "B"}, {"family": "Wei", "given": "John", "initials": "J"}, {"family": "Berggren", "given": "Steve", "initials": "S"}, {"family": "Nordgren", "given": "Ann", "initials": "A"}, {"family": "Scherer", "given": "Stephen W", "initials": "SW"}, {"family": "Lichtenstein", "given": "Paul", "initials": "P"}, {"family": "Tammimies", "given": "Kristiina", "initials": "K"}, {"family": "B\u00f6lte", "given": "Sven", "initials": "S"}], "type": "journal article", "published": "2018-02-00", "journal": {"volume": "21", "issn": "1832-4274", "issue": "1", "pages": "1-11", "title": "Twin Res Hum Genet", "issn-l": null}, "abstract": "Hundreds of penetrant risk loci have been identified across different neurodevelopmental disorders (NDDs), and these often involve rare (<1% frequency) copy number variations (CNVs), which can involve one or more genes. Monozygotic (MZ) twin pairs are long thought to share 100% of their genomic information. However, genetic differences in the form of postzygotic somatic variants have been reported recently both in typically developing (TD) and in clinically discordant MZ pairs. We sought to investigate the contribution of rare CNVs in 100 twin pairs enriched for NDD phenotypes with a particular focus on postzygotic CNVs in MZ pairs discordant for autism spectrum disorder (ASD) using the Illumina Infinium PsychArray. In our sample, no postzygotic de novo CNVs were found in 55 MZ twin pairs, including the 13 pairs discordant for ASD. We did detect a higher rate of CNVs overlapping genes involved in disorders of the nervous system, such as a rare deletion affecting HNRNPU, in MZ pairs discordant and concordant for ASD in comparison with TD pairs (p = .02). Our results are in concordance with earlier findings that postzygotic de novo CNV events are typically rare in genomic DNA derived from saliva or blood, and suggests that the discordance of NDDs in our sample of twins is not explained by discordant CNVs. Still, studies investigating postzygotic variation in MZ discordant twins using DNA from different tissues and single cells and higher resolution genomics are needed in the future.", "doi": "10.1017/thg.2017.69", "pmid": "29307321", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "S183242741700069X"}], "notes": [], "created": "2018-05-25T13:31:05.221Z", "modified": "2024-01-16T13:48:47.013Z"}, {"entity": "publication", "iuid": "a7b599fd09b44eb7adbf517fb7323ca1", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a7b599fd09b44eb7adbf517fb7323ca1.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a7b599fd09b44eb7adbf517fb7323ca1"}}, "title": "Personality Polygenes, Positive Affect, and Life Satisfaction.", "authors": [{"family": "Weiss", "given": "Alexander", "initials": "A"}, {"family": "Baselmans", "given": "Bart M L", "initials": "BM"}, {"family": "Hofer", "given": "Edith", "initials": "E"}, {"family": "Yang", "given": "Jingyun", "initials": "J"}, {"family": "Okbay", "given": "Aysu", "initials": "A"}, {"family": "Lind", "given": "Penelope A", "initials": "PA"}, {"family": "Miller", "given": "Mike B", "initials": "MB"}, {"family": "Nolte", "given": "Ilja M", "initials": "IM"}, {"family": "Zhao", "given": "Wei", "initials": "W"}, {"family": "Hagenaars", "given": "Saskia P", "initials": "SP"}, {"family": "Hottenga", "given": "Jouke-Jan", "initials": "JJ"}, {"family": "Matteson", "given": "Lindsay K", "initials": "LK"}, {"family": "Snieder", "given": "Harold", "initials": "H"}, {"family": "Faul", "given": "Jessica D", "initials": "JD"}, {"family": "Hartman", "given": "Catharina A", "initials": "CA"}, {"family": "Boyle", "given": "Patricia A", "initials": "PA"}, {"family": "Tiemeier", "given": "Henning", "initials": "H"}, {"family": "Mosing", "given": "Miriam A", "initials": "MA"}, {"family": "Pattie", "given": "Alison", "initials": "A"}, {"family": "Davies", "given": "Gail", "initials": "G"}, {"family": "Liewald", "given": "David C", "initials": "DC"}, {"family": "Schmidt", "given": "Reinhold", "initials": "R"}, {"family": "De Jager", "given": "Philip L", "initials": "PL"}, {"family": "Heath", "given": "Andrew C", "initials": "AC"}, {"family": "Jokela", "given": "Markus", "initials": "M"}, {"family": "Starr", "given": "John M", "initials": "JM"}, {"family": "Oldehinkel", "given": "Albertine J", "initials": "AJ"}, {"family": "Johannesson", "given": "Magnus", "initials": "M"}, {"family": "Cesarini", "given": "David", "initials": "D"}, {"family": "Hofman", "given": "Albert", "initials": "A"}, {"family": "Harris", "given": "Sarah E", "initials": "SE"}, {"family": "Smith", "given": "Jennifer A", "initials": "JA"}, {"family": "Keltikangas-J\u00e4rvinen", "given": "Liisa", "initials": "L"}, {"family": "Pulkki-R\u00e5back", "given": "Laura", "initials": "L"}, {"family": "Schmidt", "given": "Helena", "initials": "H"}, {"family": "Smith", "given": "Jacqui", "initials": "J"}, {"family": "Iacono", "given": "William G", "initials": "WG"}, {"family": "McGue", "given": "Matt", "initials": "M"}, {"family": "Bennett", "given": "David A", "initials": "DA"}, {"family": "Pedersen", "given": "Nancy L", "initials": "NL"}, {"family": "Magnusson", "given": "Patrik K E", "initials": "PK"}, {"family": "Deary", "given": "Ian J", "initials": "IJ"}, {"family": "Martin", "given": "Nicholas G", "initials": "NG"}, {"family": "Boomsma", "given": "Dorret I", "initials": "DI"}, {"family": "Bartels", "given": "Meike", "initials": "M"}, {"family": "Luciano", "given": "Michelle", "initials": "M"}], "type": "journal article", "published": "2016-10-00", "journal": {"volume": "19", "issn": "1832-4274", "issue": "5", "pages": "407-417", "title": "Twin Res Hum Genet", "issn-l": null}, "abstract": "Approximately half of the variation in wellbeing measures overlaps with variation in personality traits. Studies of non-human primate pedigrees and human twins suggest that this is due to common genetic influences. We tested whether personality polygenic scores for the NEO Five-Factor Inventory (NEO-FFI) domains and for item response theory (IRT) derived extraversion and neuroticism scores predict variance in wellbeing measures. Polygenic scores were based on published genome-wide association (GWA) results in over 17,000 individuals for the NEO-FFI and in over 63,000 for the IRT extraversion and neuroticism traits. The NEO-FFI polygenic scores were used to predict life satisfaction in 7 cohorts, positive affect in 12 cohorts, and general wellbeing in 1 cohort (maximal N = 46,508). Meta-analysis of these results showed no significant association between NEO-FFI personality polygenic scores and the wellbeing measures. IRT extraversion and neuroticism polygenic scores were used to predict life satisfaction and positive affect in almost 37,000 individuals from UK Biobank. Significant positive associations (effect sizes <0.05%) were observed between the extraversion polygenic score and wellbeing measures, and a negative association was observed between the polygenic neuroticism score and life satisfaction. Furthermore, using GWA data, genetic correlations of -0.49 and -0.55 were estimated between neuroticism with life satisfaction and positive affect, respectively. The moderate genetic correlation between neuroticism and wellbeing is in line with twin research showing that genetic influences on wellbeing are also shared with other independent personality domains.", "doi": "10.1017/thg.2016.65", "pmid": "27546527", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "S1832427416000657"}, {"db": "pmc", "key": "PMC5125297"}, {"db": "mid", "key": "NIHMS829602"}], "notes": [], "created": "2017-05-03T12:59:54.689Z", "modified": "2024-01-16T13:48:49.353Z"}, {"entity": "publication", "iuid": "3c586a1c4f7544feade7f95aedd83c3d", "links": {"self": {"href": "https://publications.scilifelab.se/publication/3c586a1c4f7544feade7f95aedd83c3d.json"}, "display": {"href": "https://publications.scilifelab.se/publication/3c586a1c4f7544feade7f95aedd83c3d"}}, "title": "One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins.", "authors": [{"family": "Magnusson", "given": "Patrik K E", "initials": "PK"}, {"family": "Lee", "given": "Donghwan", "initials": "D"}, {"family": "Chen", "given": "Xu", "initials": "X"}, {"family": "Szatkiewicz", "given": "Jin", "initials": "J"}, {"family": "Pramana", "given": "Setia", "initials": "S"}, {"family": "Teo", "given": "Shumei", "initials": "S"}, {"family": "Sullivan", "given": "Patrick F", "initials": "PF"}, {"family": "Feuk", "given": "Lars", "initials": "L", "orcid": "0000-0003-2355-2919", "researcher": {"href": "https://publications.scilifelab.se/researcher/3eb2f826b3554d4b9971bf0766b275c4.json"}}, {"family": "Pawitan", "given": "Yudi", "initials": "Y"}], "type": "journal article", "published": "2016-04-00", "journal": {"volume": "19", "issn": "1832-4274", "issue": "2", "pages": "97-103", "title": "Twin Res Hum Genet", "issn-l": null}, "abstract": "Monozygotic (MZ) twins stem from the same single fertilized egg and therefore share all their inherited genetic variation. This is one of the unequivocal facts on which genetic epidemiology and twin studies are based. To what extent this also implies that MZ twins share genotypes in adult tissues is not precisely established, but a common pragmatic assumption is that MZ twins are 100% genetically identical also in adult tissues. During the past decade, this view has been challenged by several reports, with observations of differences in post-zygotic copy number variations (CNVs) between members of the same MZ pair. In this study, we performed a systematic search for differences of CNVs within 38 adult MZ pairs who had been misclassified as dizygotic (DZ) twins by questionnaire-based assessment. Initial scoring by PennCNV suggested a total of 967 CNV discordances. The within-pair correlation in number of CNVs detected was strongly dependent on confidence score filtering and reached a plateau of r = 0.8 when restricting to CNVs detected with confidence score larger than 50. The top-ranked discordances were subsequently selected for validation by quantitative polymerase chain reaction (qPCR), from which one single ~120kb deletion in NRXN1 on chromosome 2 (bp 51017111-51136802) was validated. Despite involving an exon, no sign of cognitive/mental consequences was apparent in the affected twin pair, potentially reflecting limited or lack of expression of the transcripts containing this exon in nerve/brain.", "doi": "10.1017/thg.2016.5", "pmid": "26899349", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "S1832427416000050"}], "notes": [], "created": "2017-05-08T07:57:23.429Z", "modified": "2024-01-16T13:48:50.288Z"}, {"entity": "publication", "iuid": "e58b4b5ef4084830b90272d57ae6c954", "links": {"self": {"href": "https://publications.scilifelab.se/publication/e58b4b5ef4084830b90272d57ae6c954.json"}, "display": {"href": "https://publications.scilifelab.se/publication/e58b4b5ef4084830b90272d57ae6c954"}}, "title": "Hormone Replacement Therapy Associated White Blood Cell DNA Methylation and Gene Expression are Associated With Within-Pair Differences of Body Adiposity and Bone Mass.", "authors": [{"family": "Bahl", "given": "Aileen", "initials": "A"}, {"family": "P\u00f6ll\u00e4nen", "given": "Eija", "initials": "E"}, {"family": "Ismail", "given": "Khadeeja", "initials": "K"}, {"family": "Sipil\u00e4", "given": "Sarianna", "initials": "S"}, {"family": "Mikkola", "given": "Tuija M", "initials": "TM"}, {"family": "Berglund", "given": "Eva", "initials": "E"}, {"family": "Lindqvist", "given": "Carl M\u00e5rten", "initials": "CM"}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "A", "orcid": "0000-0002-9681-9146", "researcher": {"href": "https://publications.scilifelab.se/researcher/f7012e35025543379380cb90efd71243.json"}}, {"family": "Rantanen", "given": "Taina", "initials": "T"}, {"family": "Kaprio", "given": "Jaakko", "initials": "J"}, {"family": "Kovanen", "given": "Vuokko", "initials": "V"}, {"family": "Ollikainen", "given": "Miina", "initials": "M"}], "type": "comparative study", "published": "2015-12-00", "journal": {"volume": "18", "issn": "1832-4274", "issue": "6", "pages": "647-661", "title": "Twin Res Hum Genet", "issn-l": null}, "abstract": "The loss of estrogen during menopause causes changes in the female body, with wide-ranging effects on health. Estrogen-containing hormone replacement therapy (HRT) leads to a relief of typical menopausal symptoms, benefits bone and muscle health, and is associated with tissue-specific gene expression profiles. As gene expression is controlled by epigenetic factors (including DNA methylation), many of which are environmentally sensitive, it is plausible that at least part of the HRT-associated gene expression is due to changes in DNA methylation profile. We investigated genome-wide DNA methylation and gene expression patterns of white blood cells (WBCs) and their associations with body composition, including muscle and bone measures of monozygotic (MZ) female twin pairs discordant for HRT. We identified 7,855 nominally significant differentially methylated regions (DMRs) associated with 4,044 genes. Of the genes with DMRs, five (ACBA1, CCL5, FASLG, PPP2R2B, and UHRF1) were also differentially expressed. All have been previously associated with HRT or estrogenic regulation, but not with HRT-associated DNA methylation. All five genes were associated with bone mineral content (BMC), and ABCA1, FASLG, and UHRF1 were also associated with body adiposity. Our study is the first to show that HRT associates with genome-wide DNA methylation alterations in WBCs. Moreover, we show that five differentially expressed genes with DMRs associate with clinical measures, including body fat percentage, lean body mass, bone mass, and blood lipids. Our results indicate that at least part of the known beneficial HRT effects on body composition and bone mass may be regulated by DNA methylation associated alterations in gene expression in circulating WBCs.", "doi": "10.1017/thg.2015.82", "pmid": "26678050", "labels": {"National Genomics Infrastructure": "Collaborative", "NGI Uppsala (SNP&SEQ Technology Platform)": "Collaborative"}, "xrefs": [{"db": "pii", "key": "S1832427415000821"}], "notes": [], "created": "2017-10-30T13:27:31.508Z", "modified": "2021-07-07T15:11:02.235Z"}, {"entity": "publication", "iuid": "10d33ae5d0ac4b878aeb6157d686d0de", "links": {"self": {"href": "https://publications.scilifelab.se/publication/10d33ae5d0ac4b878aeb6157d686d0de.json"}, "display": {"href": "https://publications.scilifelab.se/publication/10d33ae5d0ac4b878aeb6157d686d0de"}}, "title": "The Swedish Twin Registry: establishment of a biobank and other recent developments.", "authors": [{"family": "Magnusson", "given": "Patrik K E", "initials": "PKE"}, {"family": "Almqvist", "given": "Catarina", "initials": "C"}, {"family": "Rahman", "given": "Iffat", "initials": "I"}, {"family": "Ganna", "given": "Andrea", "initials": "A"}, {"family": "Viktorin", "given": "Alexander", "initials": "A"}, {"family": "Walum", "given": "Hasse", "initials": "H"}, {"family": "Halldner", "given": "Linda", "initials": "L"}, {"family": "Lundstr\u00f6m", "given": "Sebastian", "initials": "S"}, {"family": "Ull\u00e9n", "given": "Fredrik", "initials": "F"}, {"family": "L\u00e5ngstr\u00f6m", "given": "Niklas", "initials": "N"}, {"family": "Larsson", "given": "Henrik", "initials": "H"}, {"family": "Nyman", "given": "Anastasia", "initials": "A"}, {"family": "Gumpert", "given": "Clara Hellner", "initials": "CH"}, {"family": "R\u00e5stam", "given": "Maria", "initials": "M"}, {"family": "Anckars\u00e4ter", "given": "Henrik", "initials": "H"}, {"family": "Cnattingius", "given": "Sven", "initials": "S"}, {"family": "Johannesson", "given": "Magnus", "initials": "M"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Klareskog", "given": "Lars", "initials": "L"}, {"family": "de Faire", "given": "Ulf", "initials": "U"}, {"family": "Pedersen", "given": "Nancy L", "initials": "NL"}, {"family": "Lichtenstein", "given": "Paul", "initials": "P"}], "type": "journal article", "published": "2013-02-00", "journal": {"volume": "16", "issn": "1832-4274", "issue": "1", "pages": "317-329", "title": "Twin Res Hum Genet", "issn-l": null}, "abstract": "The Swedish Twin Registry (STR) today contains more than 194,000 twins and more than 75,000 pairs have zygosity determined by an intra-pair similarity algorithm, DNA, or by being of opposite sex. Of these, approximately 20,000, 25,000, and 30,000 pairs are monozygotic, same-sex dizygotic, and opposite-sex dizygotic pairs, respectively. Since its establishment in the late 1950s, the STR has been an important epidemiological resource for the study of genetic and environmental influences on a multitude of traits, behaviors, and diseases. Following large investments in the collection of biological specimens in the past 10 years we have now established a Swedish twin biobank with DNA from 45,000 twins and blood serum from 15,000 twins, which effectively has also transformed the registry into a powerful resource for molecular studies. We here describe the main projects within which the new collections of both biological samples as well as phenotypic measures have been collected. Coverage by year of birth, zygosity determination, ethnic heterogeneity, and influences of in vitro fertilization are also described.", "doi": "10.1017/thg.2012.104", "pmid": "23137839", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "S1832427412001041"}], "notes": [], "created": "2017-05-04T14:58:18.971Z", "modified": "2020-01-21T13:56:08.590Z"}, {"entity": "publication", "iuid": "e2fb708c0025441abebb4358c4847e66", "links": {"self": {"href": "https://publications.scilifelab.se/publication/e2fb708c0025441abebb4358c4847e66.json"}, "display": {"href": "https://publications.scilifelab.se/publication/e2fb708c0025441abebb4358c4847e66"}}, "title": "A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.", "authors": [{"family": "Surakka", "given": "Ida", "initials": "I"}, {"family": "Whitfield", "given": "John B", "initials": "JB"}, {"family": "Perola", "given": "Markus", "initials": "M"}, {"family": "Visscher", "given": "Peter M", "initials": "PM"}, {"family": "Montgomery", "given": "Grant W", "initials": "GW"}, {"family": "Falchi", "given": "Mario", "initials": "M"}, {"family": "Willemsen", "given": "Gonneke", "initials": "G"}, {"family": "de Geus", "given": "Eco J C", "initials": "EJC"}, {"family": "Magnusson", "given": "Patrik K E", "initials": "PKE"}, {"family": "Christensen", "given": "Kaare", "initials": "K"}, {"family": "S\u00f8rensen", "given": "Thorkild I A", "initials": "TIA"}, {"family": "Pietil\u00e4inen", "given": "Kirsi H", "initials": "KH"}, {"family": "Rantanen", "given": "Taina", "initials": "T"}, {"family": "Silander", "given": "Kaisa", "initials": "K"}, {"family": "Wid\u00e9n", "given": "Elisabeth", "initials": "E"}, {"family": "Muilu", "given": "Juha", "initials": "J"}, {"family": "Rahman", "given": "Iffat", "initials": "I"}, {"family": "Liljedahl", "given": "Ulrika", "initials": "U", "orcid": "0000-0002-1250-392X", "researcher": {"href": "https://publications.scilifelab.se/researcher/241618974ae142b38e5fe84236819f2b.json"}}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "A"}, {"family": "Palotie", "given": "Aarno", "initials": "A"}, {"family": "Kaprio", "given": "Jaakko", "initials": "J"}, {"family": "Kyvik", "given": "Kirsten O", "initials": "KO"}, {"family": "Pedersen", "given": "Nancy L", "initials": "NL"}, {"family": "Boomsma", "given": "Dorret I", "initials": "DI"}, {"family": "Spector", "given": "Tim", "initials": "T"}, {"family": "Martin", "given": "Nicholas G", "initials": "NG"}, {"family": "Ripatti", "given": "Samuli", "initials": "S"}, {"family": "Peltonen", "given": "Leena", "initials": "L"}, {"family": "GenomEUtwin Project", "given": "None", "initials": "N"}], "type": "clinical trial", "published": "2012-12-00", "journal": {"title": "Twin Res Hum Genet", "issn": "1832-4274", "issn-l": null, "volume": "15", "issue": "6", "pages": "691-699"}, "abstract": "Genome-wide association analysis on monozygotic twin-pairs offers a route to discovery of gene environment interactions through testing for variability loci associated with sensitivity to individual environment/lifestyle. We present a genome-wide scan of loci associated with intra-pair differences in serum lipid and apolipoprotein levels. We report data for 1,720 monozygotic female twin-pairs from GenomEUtwin project with 2.5 million SNPs, imputed or genotyped, and measured serum lipid fractions for both twins. We found one locus associated with intra-pair differences in high-density lipoprotein cholesterol, rs2483058 in an intron of SRGAP2, where twins carrying the C allele are more sensitive to environmental factors(P=3.98 x 10-8). We followed up the association in further genotyped monozygotic twins (N= 1,261),which showed a moderate association for the variant (P= 0.200, same direction of an effect). In addition,we report a new association on the level of apolipoprotein A-ll (P= 4.03 x 1 o-8).", "doi": "10.1017/thg.2012.63", "pmid": "23031429", "labels": {"National Genomics Infrastructure": "Collaborative", "NGI Uppsala (SNP&SEQ Technology Platform)": "Collaborative"}, "xrefs": [{"db": "pii", "key": "S1832427412000631"}, {"db": "pmc", "key": "PMC4333218"}, {"db": "mid", "key": "EMS62065"}], "notes": [], "created": "2017-05-04T15:01:12.732Z", "modified": "2022-03-31T15:22:08.464Z"}, {"entity": "publication", "iuid": "f0314f8754d14b05883ff8e1db48007a", "links": {"self": {"href": "https://publications.scilifelab.se/publication/f0314f8754d14b05883ff8e1db48007a.json"}, "display": {"href": "https://publications.scilifelab.se/publication/f0314f8754d14b05883ff8e1db48007a"}}, "title": "Utilizing twins concordance rates to infer the predisposition to myasthenia gravis.", "authors": [{"family": "Ramanujam", "given": "Ryan", "initials": "R"}, {"family": "Pirskanen", "given": "Ritva", "initials": "R"}, {"family": "Ramanujam", "given": "S", "initials": "S"}, {"family": "Hammarstr\u00f6m", "given": "Lennart", "initials": "L"}], "type": "journal article", "published": "2011-04-00", "journal": {"volume": "14", "issn": "1832-4274", "issue": "2", "pages": "129-136", "title": "Twin Res Hum Genet", "issn-l": null}, "abstract": "Myasthenia gravis (MG) is an autoimmune disorder in which patients experience muscular fatigability due to the presence of anti-acetylcholine receptor (AChR) antibodies which inhibit signal transduction across the neuro-muscular junction. Like all complex disorders, disease is caused by an interaction between genetic and environmental factors. Although several genes have been identified which appear to be associated with MG, both classic twin studies and current multi-gene models are insufficient to explain either disease pathogenesis or inheritance. We examined the literature on MG to determine both mono- and dizygotic twin concordance rates, and used this data to (1) estimate the proportion of the population with underlying genetic predisposition to MG and the frequency of the environmental component and (2) derive the number of inherited genetic regions that are required to confer predisposition to MG. Using a MZ twin concordance rate of 35.5%, and a dizygotic rate of approximately 4-5% (based on family data), the probability of encountering environmental components necessary to develop MG in an individual with genetic predisposition is approximately 52.4%, making the frequency of predisposition (1:5240) roughly twice the rate of incidence. Furthermore, the number of genetic regions co-inherited between affected individuals is between two and four, which may be large haplotypes with interacting activity. Determining these haplotypes, by fully sequencing associated regions in cases and controls to identify mutations present, may therefore be a practically step toward the understanding of complex disease.", "doi": "10.1375/twin.14.2.129", "pmid": "21425894", "labels": {"Mutation Analysis Facility (MAF)": null}, "xrefs": [{"db": "pii", "key": "10.1375/twin.14.2.129"}], "notes": [], "created": "2017-05-04T15:03:32.845Z", "modified": "2017-05-30T12:44:56.599Z"}], "created": "2017-05-09T09:12:22.825Z", "modified": "2020-11-27T13:14:07.208Z"}