Department of Genetics Publications January 16th – 29th, 2022

Department of Genetics faculty, postdocs, students and collaborators published 17 papers during January 16^th – 29^th, 2022.

 

From GWAS variant to function: A study of ∼148,000 variants for blood cell traits. 

Sun Q, Crowley CA, Huang L, Wen J, Chen J, Bao EL, Auer PL, Lettre G, Reiner AP, Sankaran VG, Raffield LM, Li Y.

HGG Adv. 2021 Oct 7;3(1):100063. doi: 10.1016/j.xhgg.2021.100063. eCollection 2022 Jan 13.

PMID: 35047852 Free PMC article.

 

B Cell Receptor Signaling and Protein Kinase D2 Support Regulatory B Cell Function in Pancreatic Cancer. 

Michaud D, Mirlekar B, Steward C, Bishop G, Pylayeva-Gupta Y.

Front Immunol. 2022 Jan 3;12:745873. doi: 10.3389/fimmu.2021.745873. eCollection 2021.

PMID: 35046933 Free PMC article.

 

CALGB 40603 (Alliance): Long-Term Outcomes and Genomic Correlates of Response and Survival After Neoadjuvant Chemotherapy With or Without Carboplatin and Bevacizumab in Triple-Negative Breast Cancer. 

Shepherd JH, Ballman K, Polley MC, Campbell JD, Fan C, Selitsky S, Fernandez-Martinez A, Parker JS, Hoadley KA, Hu Z, Li Y, Soloway MG, Spears PA, Singh B, Tolaney SM, Somlo G, Port ER, Ma C, Kuzma C, Mamounas E, Golshan M, Bellon JR, Collyar D, Hahn OM, Hudis CA, Winer EP, Partridge A, Hyslop T, Carey LA, Perou CM, Sikov WM.

J Clin Oncol. 2022 Jan 19:JCO2101506. doi: 10.1200/JCO.21.01506. Online ahead of print.

PMID: 35044810

 

Rare germline copy number variants (CNVs) and breast cancer risk. 

Dennis J, Tyrer JP, Walker LC, Michailidou K, Dorling L, Bolla MK, Wang Q, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Brenner H, Castelao JE, Chang-Claude J, Chenevix-Trench G, Clarke CL; NBCS Collaborators, Collée JM; CTS Consortium, Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dörk T, Dossus L, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, García-Closas M, Giles GG, González-Neira A, Guénel P, Hahnen E, Haiman CA, Hall P, Hollestelle A, Hoppe R, Hopper JL, Howell A; ABCTB Investigators; kConFab/AOCS Investigators, Jager A, Jakubowska A, John EM, Johnson N, Jones ME, Jung A, Kaaks R, Keeman R, Khusnutdinova E, Kitahara CM, Ko YD, Kosma VM, Koutros S, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Lacey JV, Lambrechts D, Larson NL, Linet M, Ogrodniczak A, Mannermaa A, Manoukian S, Margolin S, Mavroudis D, Milne RL, Muranen TA, Murphy RA, Nevanlinna H, Olson JE, Olsson H, Park-Simon TW, Perou CM, Peterlongo P, Plaseska-Karanfilska D, Pylkäs K, Rennert G, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Shibli R, Smeets A, Soucy P, Southey MC, Swerdlow AJ, Tamimi RM, Taylor JA, Teras LR, Terry MB, Tomlinson I, Troester MA, Truong T, Vachon CM, Wendt C, Winqvist R, Wolk A, Yang XR, Zheng W, Ziogas A, Simard J, Dunning AM, Pharoah PDP, Easton DF.

Commun Biol. 2022 Jan 18;5(1):65. doi: 10.1038/s42003-021-02990-6.

PMID: 35042965

 

Do adverse childhood experiences and genetic obesity risk interact in relation to body mass index in young adulthood? Findings from the National Longitudinal Study of Adolescent to Adult Health. 

Inoue Y, Graff M, Howard AG, Highland HM, Young KL, Harris KM, North KE, Li Y, Duan Q, Gordon-Larsen P.

Pediatr Obes. 2022 Jan 17:e12885. doi: 10.1111/ijpo.12885. Online ahead of print.

PMID: 35040268

 

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines. 

Preston CG, Wright MW, Madhavrao R, Harrison SM, Goldstein JL, Luo X, Wand H, Wulf B, Cheung G, Mandell ME, Tong H, Cheng S, Iacocca MA, Pineda AL, Popejoy AB, Dalton K, Zhen J, Dwight SS, Babb L, DiStefano M, O’Daniel JM, Lee K, Riggs ER, Zastrow DB, Mester JL, Ritter DI, Patel RY, Subramanian SL, Milosavljevic A, Berg JS, Rehm HL, Plon SE, Cherry JM, Bustamante CD, Costa HA; Clinical Genome Resource (ClinGen).

Genome Med. 2022 Jan 18;14(1):6. doi: 10.1186/s13073-021-01004-8.

PMID: 35039090 Free PMC article.

 

Testing and extending strategies for identifying genetic disease-related encounters in pediatric patients. 

Spees LP, Hicklin K, Adams MC, Farnan L, Bensen JT, Gilleskie DB, Berg JS, Powell BC, Lich KH.

Genet Med. 2022 Jan 13:S1098-3600(21)05420-4. doi: 10.1016/j.gim.2021.12.001. Online ahead of print.

PMID: 35034852

 

Racial differences in breast cancer outcomes by hepatocyte growth factor pathway expression. 

Jones GS, Hoadley KA, Benefield H, Olsson LT, Hamilton AM, Bhattacharya A, Kirk EL, Tipaldos HJ, Fleming JM, Williams KP, Love MI, Nichols HB, Olshan AF, Troester MA.

Breast Cancer Res Treat. 2022 Jan 16. doi: 10.1007/s10549-021-06497-w. Online ahead of print.

PMID: 35034243

 

The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis. 

Hannah WB, Seifert BA, Truty R, Zariwala MA, Ameel K, Zhao Y, Nykamp K, Gaston B.

Lancet Respir Med. 2022 Jan 17:S2213-2600(21)00453-7. doi: 10.1016/S2213-2600(21)00453-7. Online ahead of print.

PMID: 35051411

 

Long non-coding RNA OIP5-AS1 (Cyrano): A context-specific regulator of normal and disease processes. 

Wooten S, Smith KN.

Clin Transl Med. 2022 Jan;12(1):e706. doi: 10.1002/ctm2.706.

PMID: 35040588 Review.

 

Association of mitochondrial DNA copy number with cardiometabolic diseases. 

Liu X, Longchamps RJ, Wiggins KL, Raffield LM, Bielak LF, Zhao W, Pitsillides A, Blackwell TW, Yao J, Guo X, Kurniansyah N, Thyagarajan B, Pankratz N, Rich SS, Taylor KD, Peyser PA, Heckbert SR, Seshadri S, Cupples LA, Boerwinkle E, Grove ML, Larson NB, Smith JA, Vasan RS, Sofer T, Fitzpatrick AL, Fornage M, Ding J, Correa A, Abecasis G, Psaty BM, Wilson JG, Levy D, Rotter JI, Bis JC; TOPMed mtDNA Working Group in NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Satizabal CL, Arking DE, Liu C.

Cell Genom. 2021 Oct 13;1(1):100006. doi: 10.1016/j.xgen.2021.100006.

PMID: 35036986 Free PMC article.

 

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. 

Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Genomics England Research Consortium, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CMB.

HGG Adv. 2021 Dec 3;3(1):100074. doi: 10.1016/j.xhgg.2021.100074. eCollection 2022 Jan 13.

PMID: 35047859 Free PMC article.

 

Editorial: Epigenetic Regulation in Cardiovascular Diseases. 

Pillai ICL, Xu S, Rau CD, Wang Z.

Front Cardiovasc Med. 2022 Jan 11;8:831851. doi: 10.3389/fcvm.2021.831851. eCollection 2021.

PMID: 35087888 Free PMC article. No abstract available.

 

The consequences of differential origin licensing dynamics in distinct chromatin environments. 

Mei L, Kedziora KM, Song EA, Purvis JE, Cook JG.

Nucleic Acids Res. 2022 Jan 26:gkac003. doi: 10.1093/nar/gkac003. Online ahead of print.

PMID: 35079814

 

Genome-wide association study of panic disorder reveals genetic overlap with neuroticism and depression. 

Forstner AJ, Awasthi S, Wolf C, Maron E, Erhardt A, Czamara D, Eriksson E, Lavebratt C, Allgulander C, Friedrich N, Becker J, Hecker J, Rambau S, Conrad R, Geiser F, McMahon FJ, Moebus S, Hess T, Buerfent BC, Hoffmann P, Herms S, Heilmann-Heimbach S, Kockum I, Olsson T, Alfredsson L, Weber H, Alpers GW, Arolt V, Fehm L, Fydrich T, Gerlach AL, Hamm A, Kircher T, Pané-Farré CA, Pauli P, Rief W, Ströhle A, Plag J, Lang T, Wittchen HU, Mattheisen M, Meier S, Metspalu A, Domschke K, Reif A, Hovatta I, Lindefors N, Andersson E, Schalling M, Mbarek H, Milaneschi Y, de Geus EJC, Boomsma DI, Penninx BWJH, Thorgeirsson TE, Steinberg S, Stefansson K, Stefansson H, Müller-Myhsok B, Hansen TF, Børglum AD, Werge T, Mortensen PB, Nordentoft M, Hougaard DM, Hultman CM, Sullivan PF, Nöthen MM, Woldbye DPD, Mors O, Binder EB, Rück C, Ripke S, Deckert J, Schumacher J.

Mol Psychiatry. 2021 Aug;26(8):4179-4190. doi: 10.1038/s41380-019-0590-2. Epub 2019 Nov 11.

PMID: 31712720

 

An Analysis of the Effects of Spaceflight and Vaccination on Antibody Repertoire Diversity. 

Rettig TA, Tan JC, Nishiyama NC, Chapes SK, Pecaut MJ.

Immunohorizons. 2021 Aug 25;5(8):675-686. doi: 10.4049/immunohorizons.2100056.

PMID: 34433623

 

Genomic Meta-analysis of Clear-cell Renal Cell Carcinoma (ccRCC): Aggregating Tumors to Resolve the Complexity of ccRCC. 

Gessner KH, Kim WY, Zambrano IA.

Eur Urol. 2022 Jan 24:S0302-2838(22)00004-5. doi: 10.1016/j.eururo.2022.01.003. Online ahead of print.

PMID: 35086722 No abstract available.