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Page 1
Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases.
Klarić L, Tsepilov YA, Stanton CM, Mangino M, Sikka TT, Esko T, Pakhomov E, Salo P, Deelen J, McGurnaghan SJ, Keser T, Vučković F, Ugrina I, Krištić J, Gudelj I, Štambuk J, Plomp R, Pučić-Baković M, Pavić T, Vilaj M, Trbojević-Akmačić I, Drake C, Dobrinić P, Mlinarec J, Jelušić B, Richmond A, Timofeeva M, Grishchenko AK, Dmitrieva J, Bermingham ML, Sharapov SZ, Farrington SM, Theodoratou E, Uh HW, Beekman M, Slagboom EP, Louis E, Georges M, Wuhrer M, Colhoun HM, Dunlop MG, Perola M, Fischer K, Polasek O, Campbell H, Rudan I, Wilson JF, Zoldoš V, Vitart V, Spector T, Aulchenko YS, Lauc G, Hayward C. Klarić L, et al. Among authors: richmond a. Sci Adv. 2020 Feb 19;6(8):eaax0301. doi: 10.1126/sciadv.aax0301. eCollection 2020 Feb. Sci Adv. 2020. PMID: 32128391 Free PMC article.
Variants associated with HHIP expression have sex-differential effects on lung function.
Fawcett KA, Obeidat M, Melbourne C, Shrine N, Guyatt AL, John C, Luan J, Richmond A, Moksnes MR, Granell R, Weiss S, Imboden M, May-Wilson S, Hysi P, Boutin TS, Portas L, Flexeder C, Harris SE, Wang CA, Lyytikäinen LP, Palviainen T, Foong RE, Keidel D, Minelli C, Langenberg C, Bossé Y, Van den Berge M, Sin DD, Hao K, Campbell A, Porteous D, Padmanabhan S, Smith BH, Evans DM, Ring S, Langhammer A, Hveem K, Willer C, Ewert R, Stubbe B, Pirastu N, Klaric L, Joshi PK, Patasova K, Massimo M, Polasek O, Starr JM, Karrasch S, Strauch K, Meitinger T, Rudan I, Rantanen T, Pietiläinen K, Kähönen M, Raitakari OT, Hall GL, Sly PD, Pennell CE, Kaprio J, Lehtimäki T, Vitart V, Deary IJ, Jarvis D, Wilson JF, Spector T, Probst-Hensch N, Wareham NJ, Völzke H, Henderson J, Strachan DP, Brumpton BM, Hayward C, Hall IP, Tobin MD, Wain LV. Fawcett KA, et al. Among authors: richmond a. Wellcome Open Res. 2021 May 24;5:111. doi: 10.12688/wellcomeopenres.15846.2. eCollection 2020. Wellcome Open Res. 2021. PMID: 33728380 Free PMC article.
Mendelian randomisation identifies alternative splicing of the FAS death receptor as a mediator of severe COVID-19.
Klaric L, Gisby JS, Papadaki A, Muckian MD, Macdonald-Dunlop E, Zhao JH, Tokolyi A, Persyn E, Pairo-Castineira E, Morris AP, Kalnapenkis A, Richmond A, Landini A, Hedman ÅK, Prins B, Zanetti D, Wheeler E, Kooperberg C, Yao C, Petrie JR, Fu J, Folkersen L, Walker M, Magnusson M, Eriksson N, Mattsson-Carlgren N, Timmers PRHJ, Hwang SJ, Enroth S, Gustafsson S, Vosa U, Chen Y, Siegbahn A, Reiner A, Johansson Å, Thorand B, Gigante B, Hayward C, Herder C, Gieger C, Langenberg C, Levy D, Zhernakova DV, Smith JG, Campbell H, Sundstrom J, Danesh J, Michaëlsson K, Suhre K, Lind L, Wallentin L, Padyukov L, Landén M, Wareham NJ, Göteson A, Hansson O, Eriksson P, Strawbridge RJ, Assimes TL, Esko T, Gyllensten U, Baillie JK, Paul DS, Joshi PK, Butterworth AS, Mälarstig A, Pirastu N, Wilson JF, Peters JE. Klaric L, et al. Among authors: richmond a. medRxiv [Preprint]. 2021 Apr 7:2021.04.01.21254789. doi: 10.1101/2021.04.01.21254789. medRxiv. 2021. PMID: 33851187 Free PMC article. Preprint.
Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin.
Joseph CB, Mariniello M, Yoshifuji A, Schiano G, Lake J, Marten J, Richmond A, Huffman JE, Campbell A, Harris SE, Troyanov S, Cocca M, Robino A, Thériault S, Eckardt KU, Wuttke M, Cheng Y, Corre T, Kolcic I, Black C, Bruat V, Concas MP, Sala C, Aeschbacher S, Schaefer F, Bergmann S, Campbell H, Olden M, Polasek O, Porteous DJ, Deary IJ, Madore F, Awadalla P, Girotto G, Ulivi S, Conen D, Wuehl E, Olinger E, Wilson JF, Bochud M, Köttgen A, Hayward C, Devuyst O. Joseph CB, et al. Among authors: richmond a. J Am Soc Nephrol. 2022 Mar;33(3):511-529. doi: 10.1681/ASN.2021040491. J Am Soc Nephrol. 2022. PMID: 35228297 Free PMC article.
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA, Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X, Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P, Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M, Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Elliott P, Walsh T, Tenesa A; GenOMICC investigators; 23andMe investigators; COVID-19 Human Genetics Initiative; Fawkes A, Murphy L, Rowan K, Ponting CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry SC, Moutsianas L, Law A, Caulfield MJ, Baillie JK. Kousathanas A, et al. Nature. 2022 Jul;607(7917):97-103. doi: 10.1038/s41586-022-04576-6. Epub 2022 Mar 7. Nature. 2022. PMID: 35255492 Free PMC article.
Genetic Landscape of the ACE2 Coronavirus Receptor.
Yang Z, Macdonald-Dunlop E, Chen J, Zhai R, Li T, Richmond A, Klarić L, Pirastu N, Ning Z, Zheng C, Wang Y, Huang T, He Y, Guo H, Ying K, Gustafsson S, Prins B, Ramisch A, Dermitzakis ET, Png G, Eriksson N, Haessler J, Hu X, Zanetti D, Boutin T, Hwang SJ, Wheeler E, Pietzner M, Raffield LM, Kalnapenkis A, Peters JE, Viñuela A, Gilly A, Elmståhl S, Dedoussis G, Petrie JR, Polašek O, Folkersen L, Chen Y, Yao C, Võsa U, Pairo-Castineira E, Clohisey S, Bretherick AD, Rawlik K; GenOMICC Consortium†; IMI-DIRECT Consortium†; Esko T, Enroth S, Johansson Å, Gyllensten U, Langenberg C, Levy D, Hayward C, Assimes TL, Kooperberg C, Manichaikul AW, Siegbahn A, Wallentin L, Lind L, Zeggini E, Schwenk JM, Butterworth AS, Michaëlsson K, Pawitan Y, Joshi PK, Baillie JK, Mälarstig A, Reiner AP, Wilson JF, Shen X. Yang Z, et al. Among authors: richmond a. Circulation. 2022 May 3;145(18):1398-1411. doi: 10.1161/CIRCULATIONAHA.121.057888. Epub 2022 Apr 7. Circulation. 2022. PMID: 35387486 Free PMC article.
X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements.
Scholz M, Horn K, Pott J, Wuttke M, Kühnapfel A, Nasr MK, Kirsten H, Li Y, Hoppmann A, Gorski M, Ghasemi S, Li M, Tin A, Chai JF, Cocca M, Wang J, Nutile T, Akiyama M, Åsvold BO, Bansal N, Biggs ML, Boutin T, Brenner H, Brumpton B, Burkhardt R, Cai J, Campbell A, Campbell H, Chalmers J, Chasman DI, Chee ML, Chee ML, Chen X, Cheng CY, Cifkova R, Daviglus M, Delgado G, Dittrich K, Edwards TL, Endlich K, Michael Gaziano J, Giri A, Giulianini F, Gordon SD, Gudbjartsson DF, Hallan S, Hamet P, Hartman CA, Hayward C, Heid IM, Hellwege JN, Holleczek B, Holm H, Hutri-Kähönen N, Hveem K, Isermann B, Jonas JB, Joshi PK, Kamatani Y, Kanai M, Kastarinen M, Khor CC, Kiess W, Kleber ME, Körner A, Kovacs P, Krajcoviechova A, Kramer H, Krämer BK, Kuokkanen M, Kähönen M, Lange LA, Lash JP, Lehtimäki T, Li H, Lin BM, Liu J, Loeffler M, Lyytikäinen LP, Magnusson PKE, Martin NG, Matsuda K, Milaneschi Y, Mishra PP, Mononen N, Montgomery GW, Mook-Kanamori DO, Mychaleckyj JC, März W, Nauck M, Nikus K, Nolte IM, Noordam R, Okada Y, Olafsson I, Oldehinkel AJ, Penninx BWJH, Perola M, Pirastu N, Polasek O, Porteous DJ, Poulain T, Psaty BM, Rabelink TJ, Raffield LM, Raitakari OT, Rasheed H, Reilly DF, Rice KM… See abstract for full author list ➔ Scholz M, et al. Among authors: richmond a. Nat Commun. 2024 Jan 18;15(1):586. doi: 10.1038/s41467-024-44709-1. Nat Commun. 2024. PMID: 38233393 Free PMC article.
Genetic mechanisms of critical illness in COVID-19.
Pairo-Castineira E, Clohisey S, Klaric L, Bretherick AD, Rawlik K, Pasko D, Walker S, Parkinson N, Fourman MH, Russell CD, Furniss J, Richmond A, Gountouna E, Wrobel N, Harrison D, Wang B, Wu Y, Meynert A, Griffiths F, Oosthuyzen W, Kousathanas A, Moutsianas L, Yang Z, Zhai R, Zheng C, Grimes G, Beale R, Millar J, Shih B, Keating S, Zechner M, Haley C, Porteous DJ, Hayward C, Yang J, Knight J, Summers C, Shankar-Hari M, Klenerman P, Turtle L, Ho A, Moore SC, Hinds C, Horby P, Nichol A, Maslove D, Ling L, McAuley D, Montgomery H, Walsh T, Pereira AC, Renieri A; GenOMICC Investigators; ISARIC4C Investigators; COVID-19 Human Genetics Initiative; 23andMe Investigators; BRACOVID Investigators; Gen-COVID Investigators; Shen X, Ponting CP, Fawkes A, Tenesa A, Caulfield M, Scott R, Rowan K, Murphy L, Openshaw PJM, Semple MG, Law A, Vitart V, Wilson JF, Baillie JK. Pairo-Castineira E, et al. Among authors: richmond a. Nature. 2021 Mar;591(7848):92-98. doi: 10.1038/s41586-020-03065-y. Epub 2020 Dec 11. Nature. 2021. PMID: 33307546
Genome-wide association study of cardiac troponin I in the general population.
Moksnes MR, Røsjø H, Richmond A, Lyngbakken MN, Graham SE, Hansen AF, Wolford BN, Gagliano Taliun SA, LeFaive J, Rasheed H, Thomas LF, Zhou W, Aung N, Surakka I, Douville NJ, Campbell A, Porteous DJ, Petersen SE, Munroe PB, Welsh P, Sattar N, Smith GD, Fritsche LG, Nielsen JB, Åsvold BO, Hveem K, Hayward C, Willer CJ, Brumpton BM, Omland T. Moksnes MR, et al. Among authors: richmond a. Hum Mol Genet. 2021 Oct 13;30(21):2027-2039. doi: 10.1093/hmg/ddab124. Hum Mol Genet. 2021. PMID: 33961016 Free PMC article.
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
478 results