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UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published nine papers during November 15-28, 2020.

 

 

 

PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia. 

Monroe TO, Garrett ME, Kousi M, Rodriguiz RM, Moon S, Bai Y, Brodar SC, Soldano KL, Savage J, Hansen TF, Muzny DM, Gibbs RA, Barak L, Sullivan PF, Ashley-Koch AE, Sawa A, Wetsel WC, Werge T, Katsanis N.

Nat Commun. 2020 Nov 19;11(1):5903. doi: 10.1038/s41467-020-19637-5.

PMID: 33214552

 

Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences. 

Spracklen CN, Iyengar AK, Vadlamudi S, Raulerson CK, Jackson AU, Brotman SM, Wu Y, Cannon ME, Davis JP, Crain AT, Currin KW, Perrin HJ, Narisu N, Stringham HM, Fuchsberger C, Locke AE, Welch RP, Kuusisto JK, Pajukanta P, Scott LJ, Li Y, Collins FS, Boehnke M, Laakso M, Mohlke KL.

PLoS Genet. 2020 Sep 11;16(9):e1009019. doi: 10.1371/journal.pgen.1009019. eCollection 2020 Sep.

PMID: 32915782

 

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals. 

Surendran P, Feofanova EV, Lahrouchi N, Ntalla I, Karthikeyan S, Cook J, Chen L, Mifsud B, Yao C, Kraja AT, Cartwright JH, Hellwege JN, Giri A, Tragante V, Thorleifsson G, Liu DJ, Prins BP, Stewart ID, Cabrera CP, Eales JM, Akbarov A, Auer PL, Bielak LF, Bis JC, Braithwaite VS, Brody JA, Daw EW, Warren HR, Drenos F, Nielsen SF, Faul JD, Fauman EB, Fava C, Ferreira T, Foley CN, Franceschini N, Gao H, Giannakopoulou O, Giulianini F, Gudbjartsson DF, Guo X, Harris SE, Havulinna AS, Helgadottir A, Huffman JE, Hwang SJ, Kanoni S, Kontto J, Larson MG, Li-Gao R, Lindström J, Lotta LA, Lu Y, Luan J, Mahajan A, Malerba G, Masca NGD, Mei H, Menni C, Mook-Kanamori DO, Mosen-Ansorena D, Müller-Nurasyid M, Paré G, Paul DS, Perola M, Poveda A, Rauramaa R, Richard M, Richardson TG, Sepúlveda N, Sim X, Smith AV, Smith JA, Staley JR, Stanáková A, Sulem P, Thériault S, Thorsteinsdottir U, Trompet S, Varga TV, Velez Edwards DR, Veronesi G, Weiss S, Willems SM, Yao J, Young R, Yu B, Zhang W, Zhao JH, Zhao W, Zhao W, Evangelou E, Aeschbacher S, Asllanaj E, Blankenberg S, Bonnycastle LL, Bork-Jensen J, Brandslund I, Braund PS, Burgess S, Cho K, Christensen C, Connell J, Mutsert R, Dominiczak AF, Dörr M, Eiriksdottir G, Farmaki AE, Gaziano JM, Grarup N, Grove ML, Hallmans G, Hansen T, Have CT, Heiss G, Jørgensen ME, Jousilahti P, Kajantie E, Kamat M, Käräjämäki A, Karpe F, Koistinen HA, Kovesdy CP, Kuulasmaa K, Laatikainen T, Lannfelt L, Lee IT, Lee WJ; LifeLines Cohort Study, Linneberg A, Martin LW, Moitry M, Nadkarni G, Neville MJ, Palmer CNA, Papanicolaou GJ, Pedersen O, Peters J, Poulter N, Rasheed A, Rasmussen KL, Rayner NW, Mägi R, Renström F, Rettig R, Rossouw J, Schreiner PJ, Sever PS, Sigurdsson EL, Skaaby T, Sun YV, Sundstrom J, Thorgeirsson G, Esko T, Trabetti E, Tsao PS, Tuomi T, Turner ST, Tzoulaki I, Vaartjes I, Vergnaud AC, Willer CJ, Wilson PWF, Witte DR, Yonova-Doing E, Zhang H, Aliya N, Almgren P, Amouyel P, Asselbergs FW, Barnes MR, Blakemore AI, Boehnke M, Bots ML, Bottinger EP, Buring JE, Chambers JC, Chen YI, Chowdhury R, Conen D, Correa A, Davey Smith G, Boer RA, Deary IJ, Dedoussis G, Deloukas P, Di Angelantonio E, Elliott P; EPIC-CVD; EPIC-InterAct, Felix SB, Ferrières J, Ford I, Fornage M, Franks PW, Franks S, Frossard P, Gambaro G, Gaunt TR, Groop L, Gudnason V, Harris TB, Hayward C, Hennig BJ, Herzig KH, Ingelsson E, Tuomilehto J, Järvelin MR, Jukema JW, Kardia SLR, Kee F, Kooner JS, Kooperberg C, Launer LJ, Lind L, Loos RJF, Majumder AAS, Laakso M, McCarthy MI, Melander O, Mohlke KL, Murray AD, Nordestgaard BG, Orho-Melander M, Packard CJ, Padmanabhan S, Palmas W, Polasek O, Porteous DJ, Prentice AM, Province MA, Relton CL, Rice K, Ridker PM, Rolandsson O, Rosendaal FR, Rotter JI, Rudan I, Salomaa V, Samani NJ, Sattar N, Sheu WH, Smith BH, Soranzo N, Spector TD, Starr JM, Sebert S, Taylor KD, Lakka TA, Timpson NJ, Tobin MD; Understanding Society Scientific Group, van der Harst P, van der Meer P, Ramachandran VS, Verweij N, Virtamo J, Völker U, Weir DR, Zeggini E, Charchar FJ; Million Veteran Program, Wareham NJ, Langenberg C, Tomaszewski M, Butterworth AS, Caulfield MJ, Danesh J, Edwards TL, Holm H, Hung AM, Lindgren CM, Liu C, Manning AK, Morris AP, Morrison AC, O’Donnell CJ, Psaty BM, Saleheen D, Stefansson K, Boerwinkle E, Chasman DI, Levy D, Newton-Cheh C, Munroe PB, Howson JMM.

Nat Genet. 2020 Nov 23. doi: 10.1038/s41588-020-00713-x. Online ahead of print.

PMID: 33230300

 

A multivariable prognostic score to guide systemic therapy in early-stage HER2-positive breast cancer: a retrospective study with an external evaluation. 

Prat A, Guarneri V, Paré L, Griguolo G, Pascual T, Dieci MV, Chic N, González-Farré B, Frassoldati A, Sanfeliu E, Cejalvo JM, Muñoz M, Bisagni G, Brasó-Maristany F, Urso L, Vidal M, Brandes AA, Adamo B, Musolino A, Miglietta F, Conte B, Oliveira M, Saura C, Pernas S, Alarcón J, Llombart-Cussac A, Cortés J, Manso L, López R, Ciruelos E, Schettini F, Villagrasa P, Carey LA, Perou CM, Piacentini F, D’Amico R, Tagliafico E, Parker JS, Conte P.

Lancet Oncol. 2020 Nov;21(11):1455-1464. doi: 10.1016/S1470-2045(20)30450-2.

PMID: 33152285

 

Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits. 

Quach BC, Bray MJ, Gaddis NC, Liu M, Palviainen T, Minica CC, Zellers S, Sherva R, Aliev F, Nothnagel M, Young KA, Marks JA, Young H, Carnes MU, Guo Y, Waldrop A, Sey NYA, Landi MT, McNeil DW, Drichel D, Farrer LA, Markunas CA, Vink JM, Hottenga JJ, Iacono WG, Kranzler HR, Saccone NL, Neale MC, Madden P, Rietschel M, Marazita ML, McGue M, Won H, Winterer G, Grucza R, Dick DM, Gelernter J, Caporaso NE, Baker TB, Boomsma DI, Kaprio J, Hokanson JE, Vrieze S, Bierut LJ, Johnson EO, Hancock DB.

Nat Commun. 2020 Nov 3;11(1):5562. doi: 10.1038/s41467-020-19265-z.

PMID: 33144568

 

Atypical UV Photoproducts Induce Non-canonical Mutation Classes Associated with Driver Mutations in Melanoma. 

Laughery MF, Brown AJ, Bohm KA, Sivapragasam S, Morris HS, Tchmola M, Washington AD, Mitchell D, Mather S, Malc EP, Mieczkowski PA, Roberts SA, Wyrick JJ.

Cell Rep. 2020 Nov 17;33(7):108401. doi: 10.1016/j.celrep.2020.108401.

PMID: 33207206

 

Neoadjuvant pazopanib and molecular analysis of tissue response in renal cell carcinoma. 

Wood CG, Ferguson JE 3rd, Parker JS, Moore DT, Whisenant JG, Maygarden SJ, Wallen EM, Kim WY, Milowsky MI, Beckermann KE, Davis NB, Haake SM, Karam JA, Bortone DS, Vincent BG, Powles T, Rathmell WK.

JCI Insight. 2020 Nov 19;5(22):132852. doi: 10.1172/jci.insight.132852.

PMID: 33208553

 

HPA axis regulation and epigenetic programming of immune-related genes in chronically stressed and non-stressed mid-life women. 

Palma-Gudiel H, Prather AA, Lin J, Oxendine JD, Guintivano J, Xia K, Rubinow DR, Wolkowitz O, Epel ES, Zannas AS.

Brain Behav Immun. 2020 Nov 19:S0889-1591(20)32403-X. doi: 10.1016/j.bbi.2020.11.027. Online ahead of print.

PMID: 33221485

 

Transparency, trust, and community welfare: towards a precision public health ethics framework for the genomics era. 

Juengst ET, Van Rie A.

Genome Med. 2020 Nov 20;12(1):98. doi: 10.1186/s13073-020-00800-y.

PMID: 33218363