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"published": "2023-07-04", "journal": {"title": "Commun Biol", "issn": "2399-3642", "issn-l": "2399-3642", "volume": "6", "issue": "1", "pages": "691"}, "abstract": "Skull bone mineral density (SK-BMD) provides a suitable trait for the discovery of key genes in bone biology, particularly to intramembranous ossification, not captured at other skeletal sites. We perform a genome-wide association meta-analysis (n ~ 43,800) of SK-BMD, identifying 59 loci, collectively explaining 12.5% of the trait variance. Association signals cluster within gene-sets involved in skeletal development and osteoporosis. Among the four novel loci (ZIC1, PRKAR1A, AZIN1/ATP6V1C1, GLRX3), there are factors implicated in intramembranous ossification and as we show, inherent to craniosynostosis processes. Functional follow-up in zebrafish confirms the importance of ZIC1 on cranial suture patterning. Likewise, we observe abnormal cranial bone initiation that culminates in ectopic sutures and reduced BMD in mosaic atp6v1c1 knockouts. Mosaic prkar1a knockouts present asymmetric bone growth and, conversely, elevated BMD. In light of this evidence linking SK-BMD loci to craniofacial abnormalities, our study provides new insight into the pathophysiology, diagnosis and treatment of skeletal diseases.", "doi": "10.1038/s42003-023-04869-0", "pmid": "37402774", "labels": {"Clinical Genomics Gothenburg": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC10319806"}, {"db": "pii", "key": "10.1038/s42003-023-04869-0"}], "notes": [], "created": "2023-11-30T22:35:09.520Z", "modified": "2023-11-30T22:36:33.714Z"}, {"entity": "publication", "iuid": "20044ca7f045473daf17863e0344b451", "links": {"self": {"href": "https://publications.scilifelab.se/publication/20044ca7f045473daf17863e0344b451.json"}, "display": {"href": "https://publications.scilifelab.se/publication/20044ca7f045473daf17863e0344b451"}}, "title": "Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.", "authors": [{"family": "Winkler", "given": "Thomas W", "initials": "TW", "orcid": "0000-0003-0292-5421", "researcher": {"href": "https://publications.scilifelab.se/researcher/613c02e5736a4357bcfff184bebb714e.json"}}, {"family": "Rasheed", "given": "Humaira", "initials": "H", "orcid": "0000-0002-3331-5864", "researcher": {"href": "https://publications.scilifelab.se/researcher/bfbae7ea55074f9292e48aaf6d815a03.json"}}, {"family": "Teumer", "given": "Alexander", "initials": "A", "orcid": "0000-0002-8309-094X", "researcher": {"href": "https://publications.scilifelab.se/researcher/dc9c2667a55b47a6a08aea764fab0946.json"}}, {"family": "Gorski", "given": "Mathias", "initials": "M"}, {"family": "Rowan", "given": "Bryce X", "initials": "BX"}, {"family": "Stanzick", "given": "Kira J", "initials": "KJ"}, {"family": "Thomas", "given": "Laurent F", "initials": "LF"}, {"family": "Tin", "given": "Adrienne", "initials": "A", "orcid": "0000-0002-4207-5866", "researcher": {"href": 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"https://publications.scilifelab.se/researcher/679465193fba4887a68e2aec34ccfd8e.json"}}, {"family": "B\u00f6ger", "given": "Carsten A", "initials": "CA"}, {"family": "Hung", "given": "Adriana M", "initials": "AM"}, {"family": "Kronenberg", "given": "Florian", "initials": "F", "orcid": "0000-0003-2229-1120", "researcher": {"href": "https://publications.scilifelab.se/researcher/ebc59079554842ecb3512ef90249a2f2.json"}}, {"family": "K\u00f6ttgen", "given": "Anna", "initials": "A", "orcid": "0000-0002-4671-3714", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe4cb85a14da4db6bc932a8bc4148efb.json"}}, {"family": "Pattaro", "given": "Cristian", "initials": "C", "orcid": "0000-0002-4119-0109", "researcher": {"href": "https://publications.scilifelab.se/researcher/3a6a570bbec647b188c4a7a5da03caac.json"}}, {"family": "Heid", "given": "Iris M", "initials": "IM", "orcid": "0000-0002-4122-5308", "researcher": {"href": "https://publications.scilifelab.se/researcher/34990140a9604dd7b61807dafc8fabc6.json"}}], "type": "journal article", "published": "2022-06-13", "journal": {"title": "Commun Biol", "issn": "2399-3642", "volume": "5", "issue": "1", "pages": "580", "issn-l": "2399-3642"}, "abstract": "Reduced glomerular filtration rate (GFR) can progress to kidney failure. Risk factors include genetics and diabetes mellitus (DM), but little is known about their interaction. We conducted genome-wide association meta-analyses for estimated GFR based on serum creatinine (eGFR), separately for individuals with or without DM (nDM = 178,691, nnoDM = 1,296,113). Our genome-wide searches identified (i) seven eGFR loci with significant DM/noDM-difference, (ii) four additional novel loci with suggestive difference and (iii) 28 further novel loci (including CUBN) by allowing for potential difference. GWAS on eGFR among DM individuals identified 2 known and 27 potentially responsible loci for diabetic kidney disease. Gene prioritization highlighted 18 genes that may inform reno-protective drug development. We highlight the existence of DM-only and noDM-only effects, which can inform about the target group, if respective genes are advanced as drug targets. Largely shared effects suggest that most drug interventions to alter eGFR should be effective in DM and noDM.", "doi": "10.1038/s42003-022-03448-z", "pmid": "35697829", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "NGI SNP genotyping": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s42003-022-03448-z"}, {"db": "pmc", "key": "PMC9192715"}], "notes": [], "created": "2022-06-14T13:16:22.813Z", "modified": "2022-11-21T15:40:40.440Z"}, {"entity": "publication", "iuid": "a16477100ca44690afdb66e882fc52d2", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a16477100ca44690afdb66e882fc52d2.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a16477100ca44690afdb66e882fc52d2"}}, "title": "Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.", "authors": [{"family": "Grosche", "given": "Sarah", "initials": "S"}, {"family": "Marenholz", 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"Standl", "given": "Marie", "initials": "M"}, {"family": "St\u00f6lzl", "given": "Dora", "initials": "D"}, {"family": "Strauch", "given": "Konstantin", "initials": "K"}, {"family": "Szwajda", "given": "Agnieszka", "initials": "A"}, {"family": "Tenesa", "given": "Albert", "initials": "A", "orcid": "0000-0003-4884-4475", "researcher": {"href": "https://publications.scilifelab.se/researcher/99ef99f1a6d5469facdbc8faa2b0ef39.json"}}, {"family": "Thompson", "given": "Philip J", "initials": "PJ"}, {"family": "Ullemar", "given": "Vilhelmina", "initials": "V"}, {"family": "Visconti", "given": "Alessia", "initials": "A", "orcid": "0000-0003-4144-2019", "researcher": {"href": "https://publications.scilifelab.se/researcher/d6b388c130a94f66819774f44a4c6e38.json"}}, {"family": "Vonk", "given": "Judith M", "initials": "JM", "orcid": "0000-0001-7531-4547", "researcher": {"href": "https://publications.scilifelab.se/researcher/e57100a0e5bc48c59590c043897a8bbd.json"}}, {"family": "Wang", "given": "Carol A", "initials": "CA", "orcid": "0000-0002-4301-3974", "researcher": {"href": "https://publications.scilifelab.se/researcher/bf99a43c27034a68976e978b104a91d7.json"}}, {"family": "Weidinger", "given": "Stephan", "initials": "S"}, {"family": "Wielscher", "given": "Matthias", "initials": "M"}, {"family": "Worth", "given": "Catherine L", "initials": "CL", "orcid": "0000-0002-1796-9606", "researcher": {"href": "https://publications.scilifelab.se/researcher/7a8a93c773b54b288809d04813441600.json"}}, {"family": "Xu", "given": "Chen-Jian", "initials": "C"}, {"family": "Lee", "given": "Young-Ae", "initials": "Y"}], "type": "journal article", "published": "2021-11-16", "journal": {"title": "Nat Commun", "issn": "2041-1723", "issn-l": "2041-1723", "volume": "12", "issue": "1", "pages": "6618"}, "abstract": "Previous genome-wide association studies revealed multiple common variants involved in eczema but the role of rare variants remains to be elucidated. Here, we investigate the role of rare variants in eczema susceptibility. We meta-analyze 21 study populations including 20,016 eczema cases and 380,433 controls. Rare variants are imputed with high accuracy using large population-based reference panels. We identify rare exonic variants in DUSP1, NOTCH4, and SLC9A4 to be associated with eczema. In DUSP1 and NOTCH4 missense variants are predicted to impact conserved functional domains. In addition, five novel common variants at SATB1-AS1/KCNH8, TRIB1/LINC00861, ZBTB1, TBX21/OSBPL7, and CSF2RB are discovered. While genes prioritized based on rare variants are significantly up-regulated in the skin, common variants point to immune cell function. Over 20% of the single nucleotide variant-based heritability is attributable to rare and low-frequency variants. The identified rare/low-frequency variants located in functional protein domains point to promising targets for novel therapeutic approaches to eczema.", "doi": "10.1038/s41467-021-26783-x", "pmid": "34785669", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41467-021-26783-x"}, {"db": "pmc", "key": "PMC8595373"}], "notes": [], "created": "2021-11-26T16:27:57.327Z", "modified": "2021-12-07T06:56:28.734Z"}, {"entity": "publication", "iuid": "5321d052b82a493991baf82d30627863", "links": {"self": {"href": "https://publications.scilifelab.se/publication/5321d052b82a493991baf82d30627863.json"}, "display": {"href": "https://publications.scilifelab.se/publication/5321d052b82a493991baf82d30627863"}}, "title": "Genetic association study of childhood aggression across raters, instruments, and age.", "authors": [{"family": "Ip", "given": "Hill F", "initials": "HF", "orcid": "0000-0003-1991-5019", "researcher": {"href": "https://publications.scilifelab.se/researcher/b04deeb54c174ad5aaed5247d9303dd2.json"}}, {"family": "van der Laan", "given": "Camiel M", "initials": "CM"}, {"family": "Krapohl", "given": "Eva M L", "initials": "EML"}, {"family": "Brikell", "given": "Isabell", "initials": "I"}, {"family": "S\u00e1nchez-Mora", "given": "Cristina", "initials": "C", "orcid": "0000-0003-4211-1107", "researcher": {"href": "https://publications.scilifelab.se/researcher/b191e52b7d984841a81f05d77f7e0d08.json"}}, {"family": "Nolte", "given": "Ilja M", "initials": "IM", "orcid": "0000-0001-5047-4077", "researcher": {"href": "https://publications.scilifelab.se/researcher/abd76becaa8a4df284103c3e20261f10.json"}}, {"family": "St Pourcain", "given": "Beate", "initials": "B", "orcid": "0000-0002-4680-3517", "researcher": {"href": "https://publications.scilifelab.se/researcher/d5cfdc61a13f46589373c8c4b5a15a47.json"}}, {"family": "Bolhuis", "given": "Koen", "initials": "K"}, {"family": "Palviainen", "given": "Teemu", "initials": "T", "orcid": "0000-0002-7847-8384", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcbc4c92052b4819b5d7d821c0c421b0.json"}}, {"family": "Zafarmand", "given": "Hadi", "initials": "H"}, {"family": "Colodro-Conde", "given": "Luc\u00eda", "initials": "L", "orcid": "0000-0002-9004-364X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a3d04cc447a34470a5063ae581eb9030.json"}}, {"family": "Gordon", "given": "Scott", "initials": "S", "orcid": "0000-0001-7623-328X", "researcher": {"href": "https://publications.scilifelab.se/researcher/8815739662214e75b60f71f0b1ca58a6.json"}}, {"family": "Zayats", "given": "Tetyana", "initials": "T"}, {"family": "Aliev", "given": "Fazil", "initials": "F", "orcid": "0000-0001-8357-4699", "researcher": {"href": "https://publications.scilifelab.se/researcher/85556629452a4054bf7228b5f7049811.json"}}, {"family": "Jiang", "given": "Chang", "initials": "C"}, {"family": "Wang", "given": "Carol A", "initials": "CA"}, {"family": "Saunders", "given": "Gretchen", "initials": "G"}, {"family": "Karhunen", "given": "Ville", "initials": "V", "orcid": "0000-0001-6064-1588", "researcher": {"href": "https://publications.scilifelab.se/researcher/219a89cb373447218073a1f58fb77864.json"}}, {"family": "Hammerschlag", "given": "Anke R", "initials": "AR"}, {"family": "Adkins", "given": "Daniel E", "initials": "DE"}, {"family": "Border", "given": "Richard", "initials": "R", "orcid": "0000-0002-6293-2968", "researcher": {"href": "https://publications.scilifelab.se/researcher/8a0382c1a2bb4c0ca9e9c2256b0ce00b.json"}}, {"family": "Peterson", "given": "Roseann E", "initials": "RE"}, {"family": "Prinz", "given": "Joseph A", "initials": "JA"}, {"family": "Thiering", "given": "Elisabeth", "initials": "E"}, {"family": "Sepp\u00e4l\u00e4", "given": "Ilkka", "initials": "I"}, {"family": "Vilor-Tejedor", "given": "Nat\u00e0lia", "initials": "N"}, {"family": "Ahluwalia", "given": 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"initials": "J"}, {"family": "Soler Artigas", "given": "Mar\u00eda", "initials": "M", "orcid": "0000-0002-3213-1107", "researcher": {"href": "https://publications.scilifelab.se/researcher/9e0e1e065b024da28acc1e1e0d14c773.json"}}, {"family": "Rovira", "given": "Paula", "initials": "P"}, {"family": "Bosch", "given": "Rosa", "initials": "R", "orcid": "0000-0002-7596-183X", "researcher": {"href": "https://publications.scilifelab.se/researcher/86bdf80d16c34257b4aa6742ff396c89.json"}}, {"family": "Espa\u00f1ol", "given": "Gemma", "initials": "G"}, {"family": "Ramos Quiroga", "given": "Josep Antoni", "initials": "JA", "orcid": "0000-0003-1622-0350", "researcher": {"href": "https://publications.scilifelab.se/researcher/d301b6f1b0ca48b3a5c8c4b8e07a3984.json"}}, {"family": "Neumann", "given": "Alexander", "initials": "A", "orcid": "0000-0001-6653-3203", "researcher": {"href": "https://publications.scilifelab.se/researcher/e51ca6c997164410957bb8cac445d3e4.json"}}, {"family": "Ensink", "given": "Judith", "initials": "J"}, {"family": "Grasby", "given": "Katrina", "initials": "K", "orcid": "0000-0001-8539-0228", "researcher": {"href": "https://publications.scilifelab.se/researcher/a8e9d35817bc460ea594b892e5d2030e.json"}}, {"family": "Morosoli", "given": "Jos\u00e9 J", "initials": "JJ"}, {"family": "Tong", "given": "Xiaoran", "initials": "X"}, {"family": "Marrington", "given": "Shelby", "initials": "S"}, {"family": "Middeldorp", "given": "Christel", "initials": "C", "orcid": "0000-0002-6218-0428", "researcher": {"href": "https://publications.scilifelab.se/researcher/db38533fb54249b99f1d67d95e19af74.json"}}, {"family": "Scott", "given": "James G", "initials": "JG"}, {"family": "Vinkhuyzen", "given": "Anna", "initials": "A"}, {"family": "Shabalin", "given": "Andrey A", "initials": "AA"}, {"family": "Corley", "given": "Robin", "initials": "R"}, {"family": "Evans", "given": "Luke M", "initials": "LM", "orcid": "0000-0002-7458-1720", "researcher": {"href": 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{"family": "Hakulinen", "given": "Christian", "initials": "C"}, {"family": "Pulkki-R\u00e5back", "given": "Laura", "initials": "L"}, {"family": "Havdahl", "given": "Alexandra", "initials": "A", "orcid": "0000-0002-9268-0423", "researcher": {"href": "https://publications.scilifelab.se/researcher/27ff8da085f7404c920bad58b6b907a3.json"}}, {"family": "Magnus", "given": "Per", "initials": "P"}, {"family": "Raitakari", "given": "Olli T", "initials": "OT"}, {"family": "Perry", "given": "John R B", "initials": "JRB", "orcid": "0000-0001-6483-3771", "researcher": {"href": "https://publications.scilifelab.se/researcher/39d95b143f6849b1b914bca9563218c8.json"}}, {"family": "Llop", "given": "Sabrina", "initials": "S"}, {"family": "Lopez-Espinosa", "given": "Maria-Jose", "initials": "M"}, {"family": "B\u00f8nnelykke", "given": "Klaus", "initials": "K"}, {"family": "Bisgaard", "given": "Hans", "initials": "H"}, {"family": "Sunyer", "given": "Jordi", "initials": "J"}, {"family": "Lehtim\u00e4ki", 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"https://publications.scilifelab.se/researcher/4db67c51837b4cdfa18cacbc3fca1173.json"}}, {"family": "Lundstr\u00f6m", "given": "Sebastian", "initials": "S"}, {"family": "Plomin", "given": "Robert", "initials": "R", "orcid": "0000-0002-0756-3629", "researcher": {"href": "https://publications.scilifelab.se/researcher/26e3ca0c39ff4a5087146d5125e0190f.json"}}, {"family": "Bartels", "given": "Meike", "initials": "M", "orcid": "0000-0002-9667-7555", "researcher": {"href": "https://publications.scilifelab.se/researcher/8a91c095e993411b99e81e21f40d8597.json"}}, {"family": "Nivard", "given": "Michel G", "initials": "MG", "orcid": "0000-0003-2015-1888", "researcher": {"href": "https://publications.scilifelab.se/researcher/0d65d2277e7344a3a13f0d2193c6813b.json"}}, {"family": "Boomsma", "given": "Dorret I", "initials": "DI", "orcid": "0000-0002-7099-7972", "researcher": {"href": "https://publications.scilifelab.se/researcher/4b66ab2525fd4a468e7a4ad14c955cb4.json"}}], "type": "journal article", "published": "2021-07-30", "journal": {"title": "Transl Psychiatry", "issn": "2158-3188", "issn-l": "2158-3188", "volume": "11", "issue": "1", "pages": "413"}, "abstract": "Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31% (SE = 0.0038). We found no genome-wide significant SNPs for AGGoverall. The gene-based analysis returned three significant genes: ST3GAL3 (P = 1.6E-06), PCDH7 (P = 2.0E-06), and IPO13 (P = 2.5E-06). All three genes have previously been associated with educational traits. Polygenic scores based on our GWAMA significantly predicted aggression in a holdout sample of children (variance explained = 0.44%) and in retrospectively assessed childhood aggression (variance explained = 0.20%). Genetic correlations (rg) among rater-specific assessment of AGG ranged from rg = 0.46 between self- and teacher-assessment to rg = 0.81 between mother- and teacher-assessment. We obtained moderate-to-strong rgs with selected phenotypes from multiple domains, but hardly with any of the classical biomarkers thought to be associated with AGG. Significant genetic correlations were observed with most psychiatric and psychological traits (range [Formula: see text]: 0.19-1.00), except for obsessive-compulsive disorder. Aggression had a negative genetic correlation (rg = ~-0.5) with cognitive traits and age at first birth. Aggression was strongly genetically correlated with smoking phenotypes (range [Formula: see text]: 0.46-0.60). The genetic correlations between aggression and psychiatric disorders were weaker for teacher-reported AGG than for mother- and self-reported AGG. The current GWAMA of childhood aggression provides a powerful tool to interrogate the rater-specific genetic etiology of AGG.", "doi": "10.1038/s41398-021-01480-x", "pmid": "34330890", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41398-021-01480-x"}, {"db": "pmc", "key": "PMC8324785"}], "notes": [], "created": "2021-08-19T13:42:02.005Z", "modified": "2021-12-07T13:20:40.961Z"}]}