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Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.
Zhou W, Kanai M, Wu KH, Rasheed H, Tsuo K, Hirbo JB, Wang Y, Bhattacharya A, Zhao H, Namba S, Surakka I, Wolford BN, Lo Faro V, Lopera-Maya EA, Läll K, Favé MJ, Partanen JJ, Chapman SB, Karjalainen J, Kurki M, Maasha M, Brumpton BM, Chavan S, Chen TT, Daya M, Ding Y, Feng YA, Guare LA, Gignoux CR, Graham SE, Hornsby WE, Ingold N, Ismail SI, Johnson R, Laisk T, Lin K, Lv J, Millwood IY, Moreno-Grau S, Nam K, Palta P, Pandit A, Preuss MH, Saad C, Setia-Verma S, Thorsteinsdottir U, Uzunovic J, Verma A, Zawistowski M, Zhong X, Afifi N, Al-Dabhani KM, Al Thani A, Bradford Y, Campbell A, Crooks K, de Bock GH, Damrauer SM, Douville NJ, Finer S, Fritsche LG, Fthenou E, Gonzalez-Arroyo G, Griffiths CJ, Guo Y, Hunt KA, Ioannidis A, Jansonius NM, Konuma T, Lee MTM, Lopez-Pineda A, Matsuda Y, Marioni RE, Moatamed B, Nava-Aguilar MA, Numakura K, Patil S, Rafaels N, Richmond A, Rojas-Muñoz A, Shortt JA, Straub P, Tao R, Vanderwerff B, Vernekar M, Veturi Y, Barnes KC, Boezen M, Chen Z, Chen CY, Cho J, Smith GD, Finucane HK, Franke L, Gamazon ER, Ganna A, Gaunt TR, Ge T, Huang H, Huffman J, Katsanis N, Koskela JT, Lajonchere C, Law MH, Li L, Lindgren CM, Loos RJF, MacGregor S, Matsuda K, Olsen CM… See abstract for full author list ➔ Zhou W, et al. Cell Genom. 2022 Oct 12;2(10):100192. doi: 10.1016/j.xgen.2022.100192. eCollection 2022 Oct 12. Cell Genom. 2022. PMID: 36777996 Free PMC article.
This collaborative effort improves GWAS power for diseases, benefits understudied diseases, and improves risk prediction while also enabling the nomination of disease genes and drug candidates by incorporating gene and protein expression data and providing insight into the …
This collaborative effort improves GWAS power for diseases, benefits understudied diseases, and improves risk prediction while also enabling …
MC3R links nutritional state to childhood growth and the timing of puberty.
Lam BYH, Williamson A, Finer S, Day FR, Tadross JA, Gonçalves Soares A, Wade K, Sweeney P, Bedenbaugh MN, Porter DT, Melvin A, Ellacott KLJ, Lippert RN, Buller S, Rosmaninho-Salgado J, Dowsett GKC, Ridley KE, Xu Z, Cimino I, Rimmington D, Rainbow K, Duckett K, Holmqvist S, Khan A, Dai X, Bochukova EG; Genes & Health Research Team; Trembath RC, Martin HC, Coll AP, Rowitch DH, Wareham NJ, van Heel DA, Timpson N, Simerly RB, Ong KK, Cone RD, Langenberg C, Perry JRB, Yeo GS, O'Rahilly S. Lam BYH, et al. Nature. 2021 Nov;599(7885):436-441. doi: 10.1038/s41586-021-04088-9. Epub 2021 Nov 3. Nature. 2021. PMID: 34732894 Free PMC article.
Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference.
Meng X, Navoly G, Giannakopoulou O, Levey DF, Koller D, Pathak GA, Koen N, Lin K, Adams MJ, Rentería ME, Feng Y, Gaziano JM, Stein DJ, Zar HJ, Campbell ML, van Heel DA, Trivedi B, Finer S, McQuillin A, Bass N, Chundru VK, Martin HC, Huang QQ, Valkovskaya M, Chu CY, Kanjira S, Kuo PH, Chen HC, Tsai SJ, Liu YL, Kendler KS, Peterson RE, Cai N, Fang Y, Sen S, Scott LJ, Burmeister M, Loos RJF, Preuss MH, Actkins KV, Davis LK, Uddin M, Wani AH, Wildman DE, Aiello AE, Ursano RJ, Kessler RC, Kanai M, Okada Y, Sakaue S, Rabinowitz JA, Maher BS, Uhl G, Eaton W, Cruz-Fuentes CS, Martinez-Levy GA, Campos AI, Millwood IY, Chen Z, Li L, Wassertheil-Smoller S, Jiang Y, Tian C, Martin NG, Mitchell BL, Byrne EM, Awasthi S, Coleman JRI, Ripke S; PGC-MDD Working Group; China Kadoorie Biobank Collaborative Group; 23andMe Research Team; Genes and Health Research Team; BioBank Japan Project; Sofer T, Walters RG, McIntosh AM, Polimanti R, Dunn EC, Stein MB, Gelernter J, Lewis CM, Kuchenbaecker K. Meng X, et al. Nat Genet. 2024 Feb;56(2):222-233. doi: 10.1038/s41588-023-01596-4. Epub 2024 Jan 4. Nat Genet. 2024. PMID: 38177345 Free PMC article.
A transcriptome-wide association study identified 205 significantly associated novel genes. These findings suggest that, for MD, increasing ancestral and global diversity in genetic studies may be particularly important to ensure discovery of core genes and inform a …
A transcriptome-wide association study identified 205 significantly associated novel genes. These findings suggest that, for MD, incr …
Influence of autozygosity on common disease risk across the phenotypic spectrum.
Malawsky DS, van Walree E, Jacobs BM, Heng TH, Huang QQ, Sabir AH, Rahman S, Sharif SM, Khan A, Mirkov MU; 23andMe Research Team; Genes & Health Research Team; Kuwahara H, Gao X, Alkuraya FS, Posthuma D, Newman WG, Griffiths CJ, Mathur R, van Heel DA, Finer S, O'Connell J, Martin HC. Malawsky DS, et al. Cell. 2023 Oct 12;186(21):4514-4527.e14. doi: 10.1016/j.cell.2023.08.028. Epub 2023 Sep 26. Cell. 2023. PMID: 37757828 Free PMC article.
We investigated associations between the fraction of the genome in runs of homozygosity (F(ROH)) and common diseases in Genes & Health (n = 23,978 British South Asians), UK Biobank (n = 397,184), and 23andMe. ...
We investigated associations between the fraction of the genome in runs of homozygosity (F(ROH)) and common diseases in Genes & H …
A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease.
Patel AP, Wang M, Ruan Y, Koyama S, Clarke SL, Yang X, Tcheandjieu C, Agrawal S, Fahed AC, Ellinor PT; Genes & Health Research Team; the Million Veteran Program; Tsao PS, Sun YV, Cho K, Wilson PWF, Assimes TL, van Heel DA, Butterworth AS, Aragam KG, Natarajan P, Khera AV. Patel AP, et al. Nat Med. 2023 Jul;29(7):1793-1803. doi: 10.1038/s41591-023-02429-x. Epub 2023 Jul 6. Nat Med. 2023. PMID: 37414900 Free PMC article.
ADRA2A and IRX1 are putative risk genes for Raynaud's phenomenon.
Hartmann S, Yasmeen S, Jacobs BM, Denaxas S, Pirmohamed M, Gamazon ER, Caulfield MJ; Genes & Health Research Team; Hemingway H, Pietzner M, Langenberg C. Hartmann S, et al. Nat Commun. 2023 Oct 12;14(1):6156. doi: 10.1038/s41467-023-41876-5. Nat Commun. 2023. PMID: 37828025 Free PMC article.
Raynaud's phenomenon (RP) is a common vasospastic disorder that causes severe pain and ulcers, but despite its high reported heritability, no causal genes have been robustly identified. We conducted a genome-wide association study including 5,147 RP cases and 439,294 contr …
Raynaud's phenomenon (RP) is a common vasospastic disorder that causes severe pain and ulcers, but despite its high reported heritability, n …
Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease.
Williams AT, Chen J, Coley K, Batini C, Izquierdo A, Packer R, Abner E, Kanoni S, Shepherd DJ, Free RC, Hollox EJ, Brunskill NJ, Ntalla I, Reeve N, Brightling CE, Venn L, Adams E, Bee C, Wallace SE, Pareek M, Hansell AL, Esko T; Estonian Biobank Research Team; Stow D, Jacobs BM, van Heel DA; Genes & Health Research Team; Hennah W, Rao BS, Dudbridge F, Wain LV, Shrine N, Tobin MD, John C. Williams AT, et al. Nat Commun. 2023 Oct 23;14(1):6713. doi: 10.1038/s41467-023-42284-5. Nat Commun. 2023. PMID: 37872160 Free PMC article.
We identify 158 novel genetic associations, more than doubling the number of known associations with TSH, and implicate 112 putative causal genes, of which 76 are not previously implicated. A polygenic score for TSH is associated with TSH levels in African, South Asian, Ea …
We identify 158 novel genetic associations, more than doubling the number of known associations with TSH, and implicate 112 putative causal …
CYP2C19 Genotype Prevalence and Association With Recurrent Myocardial Infarction in British-South Asians Treated With Clopidogrel.
Magavern EF, Jacobs B, Warren H, Finocchiaro G, Finer S, van Heel DA; Genes & Health Research Team; Smedley D, Caulfield MJ. Magavern EF, et al. JACC Adv. 2023 Sep;2(7):None. doi: 10.1016/j.jacadv.2023.100573. JACC Adv. 2023. PMID: 37808344 Free PMC article.
OBJECTIVES: The objective of this study was to assess prevalence of common CYP2C19 genotype polymorphisms in a British-South Asian population and correlate these with recurrent myocardial infarction risk in participants prescribed clopidogrel. METHODS: The Genes & Heal …
OBJECTIVES: The objective of this study was to assess prevalence of common CYP2C19 genotype polymorphisms in a British-South Asian populatio …
Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.
Zöllner J, Finer S, Linton KJ; Genes and Health Research Team; van Heel DA, Williamson C, Dixon PH. Zöllner J, et al. Sci Rep. 2023 May 19;13(1):8120. doi: 10.1038/s41598-023-33391-w. Sci Rep. 2023. PMID: 37208429 Free PMC article.
This study assessed the contribution of five genes previously known to be involved in cholestatic liver disease in British Bangladeshi and Pakistani people. Five genes (ABCB4, ABCB11, ATP8B1, NR1H4, TJP2) were interrogated by exome sequencing data of 5236 volunteers …
This study assessed the contribution of five genes previously known to be involved in cholestatic liver disease in British Bangladesh …
Polygenic risk score prediction of multiple sclerosis in individuals of South Asian ancestry.
Breedon JR, Marshall CR, Giovannoni G, van Heel DA; Genes & Health Research Team; Dobson R, Jacobs BM. Breedon JR, et al. Brain Commun. 2023 Feb 22;5(2):fcad041. doi: 10.1093/braincomms/fcad041. eCollection 2023. Brain Commun. 2023. PMID: 37006331 Free PMC article.
We compared individuals with and without multiple sclerosis in both studies (Genes & Health: N (Cases) = 42, N (Control) = 40 490; UK Biobank: N (Cases) = 2091, N (Control) = 374 866). ...We found that, as expected, European-derived polygenic risk scores perform poorly …
We compared individuals with and without multiple sclerosis in both studies (Genes & Health: N (Cases) = 42, N (Control) = 40 490 …
23 results