Department of Genetics Faculty Publications for May 1-12, 2017

Department of Genetics faculty and collaborators published seventeen papers during the first two weeks of May 2017.

Comparison of Breast Cancer Molecular Features and Survival by African and European Ancestry in The Cancer Genome Atlas.

Huo D, Hu H, Rhie SK, Gamazon ER, Cherniack AD, Liu J, Yoshimatsu TF, Pitt JJ, Hoadley KA, Troester M, Ru Y, Lichtenberg T, Sturtz LA, Shelley CS, Benz CC, Mills GB, Laird PW, Shriver CD, Perou CM, Olopade OI.
JAMA Oncol. 2017 May 4. doi: 10.1001/jamaoncol.2017.0595. [Epub ahead of print] PMID: PMID: 28472234

Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

Hodonsky CJ, Jain D, Schick UM, Morrison JV, Brown L, McHugh CP, Schurmann C, Chen DD, Liu YM, Auer PL, Laurie CA, Taylor KD, Browning BL, Li Y, Papanicolaou G, Rotter JI, Kurita R, Nakamura Y, Browning SR, Loos RJF, North KE, Laurie CC, Thornton TA, Pankratz N, Bauer DE, Sofer T, Reiner AP.
PLoS Genet. 2017 Apr 28;13(4):e1006760. doi: 10.1371/journal.pgen.1006760. [Epub ahead of print] PMID: 28453575

NLRP12 attenuates colon inflammation by maintaining colonic microbial diversity and promoting protective commensal bacterial growth.

Chen L, Wilson JE, Koenigsknecht MJ, Chou WC, Montgomery SA, Truax AD, Brickey WJ, Packey CD, Maharshak N, Matsushima GK, Plevy SE, Young VB, Sartor RB, Ting JP.
Nat Immunol. 2017 May;18(5):541-551. doi: 10.1038/ni.3690. Epub 2017 Mar 13.
PMID: 28288099

No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study.

Johnson EC, Bjelland DW, Howrigan DP, Abdellaoui A, Breen G, Borglum A, Cichon S, Degenhardt F, Forstner AJ, Frank J, Genovese G, Heilmann-Heimbach S, Herms S, Hoffman P, Maier W, Mattheisen M, Morris D, Mowry B, Müller-Mhysok B, Neale B, Nenadic I, Nöthen MM, O’Dushlaine C, Rietschel M, Ruderfer DM, Rujescu D, Schulze TG, Simonson MA, Stahl E, Strohmaier J, Witt SH; Schizophrenia Working Group of the Psychiatric Genomics Consortium., Sullivan PF, Keller MC.
PLoS Genet. 2016 Oct 28;12(10):e1006343. doi: 10.1371/journal.pgen.1006343. eCollection 2016 Oct.
PMID: 27792727

Maternal vitamin D depletion alters DNA methylation at imprinted loci in multiple generations.

Xue J, Schoenrock SA, Valdar W, Tarantino LM, Ideraabdullah FY.
Clin Epigenetics. 2016 Oct 12;8:107. eCollection 2016.
PMID: 27777636

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.

Regalado ES, Guo DC, Santos-Cortez RL, Hostetler E, Bensend TA, Pannu H, Estrera A, Safi H, Mitchell AL, Evans JP, Leal SM, Bamshad M, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics., Milewicz DM.
Clin Genet. 2016 Jun;89(6):719-23. doi: 10.1111/cge.12702. Epub 2016 Jan 20.
PMID: 26621581

Finding the Rare Pathogenic Variants in a Human Genome.

Evans JP, Powell BC, Berg JS.
JAMA. 2017 May 9;317(18):1904-1905. doi: 10.1001/jama.2017.0432. No abstract available.
PMID: 28492888

A Genome-Wide Association Study of IVGTT-Based Measures of First Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants.

Wood AR, Jonsson A, Jackson AU, Wang N, van Leewen N, Palmer ND, Kobes S, Deelen J, Boquete-Vilarino L, Paananen J, Stančáková A, Boomsma DI, de Geus EJ, Eekhoff EM, Fritsche A, Kramer M, Nijpels G, Simonis-Bik A, van Haeften TW, Mahajan A, Boehnke M, Bergman RN, Tuomilehto J, Collins FS, Mohlke KL, Banasik K, Groves CJ, McCarthy MI Direct, Pearson ER, Natali A, Mari A, Buchanan TA, Taylor KD, Xiang AH, Gjesing AP, Grarup N, Eiberg H, Pedersen O, Chen YD, Laakso M, Norris JM, Smith U, Wagenknecht LE, Baier L, Bowden DW, Hansen T, Walker M, Watanabe RM, ‘t Hart LM, Hanson RL, Frayling TM.
Diabetes. 2017 May 10. pii: db161452. doi: 10.2337/db16-1452. [Epub ahead of print] No abstract available.
PMID: 28490609

The role of the microbiome in cancer development and therapy.

Bhatt AP, Redinbo MR, Bultman SJ.
CA Cancer J Clin. 2017 May 8. doi: 10.3322/caac.21398. [Epub ahead of print] Review.
PMID: 28481406

Toward Personalized Gene Therapy: Characterizing the Host Genetic Control of Lentiviral-Vector-Mediated Hepatic Gene Delivery.

Suwanmanee T, Ferris MT, Hu P, Gui T, Montgomery SA, Pardo-Manuel de Villena F, Kafri T.
Mol Ther Methods Clin Dev. 2017 Apr 5;5:83-92. doi: 10.1016/j.omtm.2017.03.009. eCollection 2017 Jun 16.
PMID: 28480308

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits.

Civelek M, Wu Y, Pan C, Raulerson CK, Ko A, He A, Tilford C, Saleem NK, Stančáková A, Scott LJ, Fuchsberger C, Stringham HM, Jackson AU, Narisu N, Chines PS, Small KS, Kuusisto J, Parks BW, Pajukanta P, Kirchgessner T, Collins FS, Gargalovic PS, Boehnke M, Laakso M, Mohlke KL, Lusis AJ.
Am J Hum Genet. 2017 Mar 2;100(3):428-443. doi: 10.1016/j.ajhg.2017.01.027.
PMID: 28257690

MicroRNA-30c Mimic Mitigates Hypercholesterolemia and Atherosclerosis in Mice.

Irani S, Pan X, Peck BC, Iqbal J, Sethupathy P, Hussain MM.
J Biol Chem. 2016 Aug 26;291(35):18397-409. doi: 10.1074/jbc.M116.728451. Epub 2016 Jun 30.
PMID: 27365390

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL.
Am J Hum Genet. 2016 Jun 2;98(6):1067-76. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12.
PMID: 27181684

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium.
Am J Hum Genet. 2016 Jun 2;98(6):1051-66. doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12.
PMID: 27181682

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.

Muenzer J, Jones SA, Tylki-Szymańska A, Harmatz P, Mendelsohn NJ, Guffon N, Giugliani R, Burton BK, Scarpa M, Beck M, Jangelind Y, Hernberg-Stahl E, Larsen MP, Pulles T, Whiteman DAH.
Orphanet J Rare Dis. 2017 May 2;12(1):82. doi: 10.1186/s13023-017-0635-z. Review.
PMID: 28464912

The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts.

Saini N, Roberts SA, Klimczak LJ, Chan K, Grimm SA, Dai S, Fargo DC, Boyer JC, Kaufmann WK, Taylor JA, Lee E, Cortes-Ciriano I, Park PJ, Schurman SH, Malc EP, Mieczkowski PA, Gordenin DA.
PLoS Genet. 2016 Oct 27;12(10):e1006385. doi: 10.1371/journal.pgen.1006385. eCollection 2016 Oct.
PMID: 27788131

Immune-related gene expression profiling after PD-1 blockade in non-small cell lung carcinoma, head and neck squamous cell carcinoma and melanoma.

Prat A, Navarro A, Paré L, Reguart N, Galvan P, Pascual T, Martínez A, Nuciforo P, Comerma L, Alos L, Pardo N, Cedrés S, Fan C, Parker JS, Gaba L, Victoria I, Viñolas N, Vivancos A, Arance A, Felip E.
Cancer Res. 2017 May 9. pii: canres.3556.2017. doi: 10.1158/0008-5472.CAN-16-3556. [Epub ahead of print] PMID: 28487385