Genomics & Health Impact Update

The Office of Public Health Genomics (OPHG) provides updated and credible information on how genomic information and family health history can improve health and influence policy and practice.

CDC-Authored Publications 2012

Age-associated DNA methylation in pediatric populations
Alisch RS, Barwick BG, Chopra P, Myrick LK, Satten GA, Conneely KN, Warren ST. Genome Res. 2012 Apr;22(4):623-32.

Recommendations for publication of viral genetic data and sample access for novel viruses and strains
Arrigo NC, Briese T, Calisher CH, Drebot MA, Hjelle B, Leduc JW, Powers AM, Repik PM, Roehrig JT, Schmaljohn CS, Tesh RB, Weaver SC. Am J Trop Med Hyg. 2012 Feb;86(2):189-191.

Existence of the Rdl mutant alleles among the Anopheles malaria vector in Indonesia
Asih PB, Syahrani L, Rozi IE, Pratama NR, Marantina SS, Arsyad DS, Mangunwardoyo W, Hawley W, Laihad F, Shinta S, Sukowati S, Lobo NF, Syafruddin D. Malar J. 2012 Feb 25;11(1):57.

Looking back at genomic medicine in 2011
Auffray C, Caulfield T, Khoury MJ, Lupski JR, Schwab M, Veenstra T. Genome Med. 2012 Jan 30;4(1):9.

Single nucleotide polymorphism in the promoter region of the CD209 gene is associated with human predisposition to severe forms of tick-borne encephalitis
Barkhash AV, Perelygin AA, Babenko VN, Brinton MA, Voevoda MI. Antiviral Res. 2012 Jan;93(1):64-8.

Multistate outbreak of MDR TB identified by genotype cluster investigation
Barry PM, Gardner TJ, Funk E, Oren E, Field K, Shaw T, Langer AJ. Emerg Infect Dis. 2012 Jan;18(1):113-6.

Evaluation for West Nile Virus (WNV) RNA in urine of patients within 5 months of WNV infection
Baty SA, Gibney KB, Staples JE, Patterson AB, Levy C, Lehman J, Wadleigh T, Feld J, Lanciotti R, Nugent CT, Fischer M.
J Infect Dis. 2012 May;205(9):1476-7.

Rapid, simultaneous detection of Clostridium sordellii and Clostridium perfringens in archived tissues by a novel PCR-based microsphere assay: diagnostic implications for pregnancy-associated toxic shock syndrome cases
Bhatnagar J, Deleon-Carnes M, Kellar KL, Bandyopadhyay K, Antoniadou ZA, Shieh WJ, Paddock CD, Zaki SR. Infect Dis Obstet Gynecol. 2012 ;2012:972845.

Analysis of a non-structural gene reveals evidence of possible hepatitis C virus (HCV) compartmentalization
Blackard JT, Ma G, Welge JA, Martin CM, Sherman KE, Taylor LE, Mayer KH, Jamieson DJ. J Med Virol. 2012 February;84(2):242-252.

Japanese encephalitis virus genotype replacement, Taiwan, 2009-2010
Chen YY, Fan YC, Tu WC, Chang RY, Shih CC, Lu IH, Chien MS, Lee WC, Chen TH, Chang GJ, Chiou SS. Emerg Infect Dis. 2011 Dec;17(12):2354-6.

Molecular signatures associated with Mx1-mediated resistance to highly pathogenic influenza virus infection: mechanisms of survival
Cilloniz C, Pantin-Jackwood MJ, Ni C, Carter VS, Korth MJ, Swayne DE, Tumpey TM, Katze MG. J Virol. 2012 Mar;86(5):2437-46.

CFTR mutation analysis and haplotype associations in CF patients
Cordovado SK, Hendrix M, Greene CN, Mochal S, Earley MC, Farrell PM, Kharrazi M, Hannon WH, Mueller PW. Mol Genet Metab. 2012 Feb;105(2):249-54.

The 3' untranslated regions of influenza genomic sequences are 5'PPP-independent ligands for RIG-I
Davis WG, Bowzard JB, Sharma SD, Wiens ME, Ranjan P, Gangappa S, Stuchlik O, Pohl J, Donis RO, Katz JM, Cameron CE, Fujita T, Sambhara S. PLoS One. 2012 ;7(3):e32661.

Severe outcomes are associated with genogroup 2 genotype 4 norovirus outbreaks: a systematic literature review
Desai R, Hembree CD, Handel A, Matthews JE, Dickey BW, McDonald S, Hall AJ, Parashar UD, Leon JS, Lopman B. Clin Infect Dis. 2012 Apr 4.

Neuraminidase H275Y and hemagglutinin D222G mutations in a fatal case of 2009 pandemic influenza A (H1N1) virus infection
Devries A, Wotton J, Lees C, Boxrud D, Uyeki T, Lynfield R.
Influenza Other Respi Viruses. 2012 Jan 14.

Development of a novel genus-specific real-time PCR assay for detection and differentiation of Bartonella species and genotypes
Diaz MH, Bai Y, Malania L, Winchell JM, Kosoy MY.
J Clin Microbiol. 2012 Feb 29.

Comparison of HIV-1 resistance profiles in plasma RNA versus PBMC DNA in heavily treated patients in Honduras, a resource-limited country
Diallo K, Murillo WE, de Rivera IL, Albert J, Zhou Z, Nkengasong J, Zhang G, Sabatier JF, Yang C. Int J Mol Epidemiol Genet. 2012 ;3(1):56-65.

Genetic diversity and antibiotic resistance in Shigella dysenteriae and Shigella boydii strains isolated from children aged <5 years in Egypt
El-Gendy AM, Mansour A, Weiner MA, Pimentel G, Armstrong AW, Young SY, Elsayed N, Klena JD. Epidemiol Infect. 2012 Feb;140(2):299-310.

Genomic analysis of emm59 group A Streptococcus invasive strains, United States [PDF 221.09 KB]
Fittipaldi N, Olsen RJ, Beres SB, Van Beneden C, Musser JM.
Emerg Infect Dis. 2012 ;18(4):650-652.

Assessing the influence of 5,10-methylenetetrahydrofolate reductase polymorphism on folate stability during long-term frozen storage, thawing, and repeated freeze/thawing of whole blood
Fazili Z, Sternberg MR, Pfeiffer CM. Clin Chim Acta. 2012 Jun 14;413(11-12):966-72.

Characterization of multi-drug resistant Salmonella enterica serovar Heidelberg from a ground turkey-associated outbreak in the United States, 2011
Folster JP, Pecic G, Rickert R, Taylor J, Zhao S, Fedorka-Cray PL, Whichard J, McDermott P. Antimicrob Agents Chemother. 2012 Mar 26.

Epidemic history of hepatitis C virus infection in two remote communities in Nigeria, West Africa
Forbi JC, Purdy MA, Campo DS, Vaughan G, Dimitrova ZE, Ganova-Raeva LM, Xia GL, Khudyakov YE. J Gen Virol. 2012 Mar 28.

Relevance, pathogenesis, and testing algorithm for mismatch repair-defective colorectal carcinomas: a report of the association for molecular pathology.
Funkhouser WK Jr, Lubin IM, Monzon FA, Zehnbauer BA, Evans JP, Ogino S, Nowak JA. J Mol Diagn. 2012 Mar;14(2):91-103.

Monitoring HPV type-specific prevalence over time through clinic-based surveillance: a perspective on vaccine effectiveness
Gaffga NH, Flagg EW, Weinstock HS, Shlay JC, Ghanem KG, Koutsky LA, Kerndt PR, Hsu KK, Unger ER, Datta SD. Vaccine. 2012 Jan 17.

Pneumococcal genome sequencing tracks a vaccine escape variant formed through a multi-fragment recombination event
Golubchik T, Brueggemann AB, Street T, Gertz RE, Spencer CC, Ho T, Giannoulatou E, Link-Gelles R, Harding RM, Beall B, Peto TE, Moore MR, Donnelly P, Crook DW, Bowden R. Nat Genet. 2012 ;44(3):352-5.

F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis
Gouw SC, van den Berg HM, Oldenburg J, Astermark J, de Groot PG, Margaglione M, Thompson AR, van Heerde W, Boekhorst J, Miller CH, le Cessie S, van der Bom JG. Blood. 2012 Mar 22;119(12):2922-34.

Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III).
Grimsby JL, Porneala BC, Vassy JL, Yang Q, Florez JC, Dupuis J, Liu T, Yesupriya A, Chang MH, Ned RM, Dowling NF, Khoury MJ, Meigs JB, Magic Investigators T. BMC Med Genet. 2012 Apr 27;13(1):30.

The association of variants in the FTO gene with longitudinal body mass index profiles in non-Hispanic white children and adolescents
Hallman DM, Friedel VC, Eissa MA, Boerwinkle E, Huber JC, Harrist RB, Srinivasan SR, Chen W, Dai S, Labarthe DR, Berenson GS. Int J Obes (Lond). 2012 Jan;36(1):61-8.

Implications of Internet availability of genomic information for public health practice
Hesse BW, Arora NK, Khoury MJ. Public Health Genomics. 2012 ;15(3-4):201-8.

Evaluation of a high-throughput diagnostic system for detection of HIV-1 in dried blood spot samples from infants in Mozambique
Jani IV, Sabatier J, Vubil A, Subbarao S, Bila D, de Sousa A, Mabunda N, Garcia A, Skaggs B, Ellenberger D, Ramos A. J Clin Microbiol. 2012 Apr;50(4):1458-60.

Bartonella bacteria in nature: where does population variability end and a species start?
Kosoy M, Hayman DT, Chan KS. Infect Genet Evol. 2012 Mar 23.

Atypical Listeria monocytogenes serotype 4b strains harboring a lineage II-specific gene cassette
Lee S, Ward TJ, Graves LM, Wolf LA, Sperry K, Siletzky RM, Kathariou S.
Appl Environ Microbiol. 2012 Feb;78(3):660-7.

Diversity of 16S-23S rDNA internal transcribed spacer (ITS) reveals phylogenetic relationships in Burkholderia pseudomallei and its near-neighbors
Liguori AP, Warrington SD, Ginther JL, Pearson T, Bowers J, Glass MB, Mayo M, Wuthiekanun V, Engelthaler D, Peacock SJ, Currie BJ, Wagner DM, Keim P, Tuanyok A. PLoS One. 2011 ;6(12):e29323.

Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database.
Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, Destefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hill-Burns EM, Klein C, Latourelle JC, Maraganore DM, Martin ER, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Singleton AB, Stefansson K, Toda T, Tung JY, Vance J, Wood NW, Zabetian CP; 23andMe, The Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium; The International Parkinson's Disease Genomics Consortium (IPDGC); The Parkinson's Disease GWAS Consortium; The Wellcome Trust Case Control Consortium 2 (WTCCC2), Young P, Tanzi RE, Khoury MJ, Zipp F, Lehrach H, Ioannidis JP, Bertram L. PLoS Genet. 2012 Mar;8(3):e1002548.

Trimethyltin-induced neurotoxicity: gene expression pathway analysis, q-RT-PCR and immunoblotting reveal early effects associated with hippocampal damage and gliosis
Little AR, Miller DB, Li S, Kashon ML, O'Callaghan JP. Neurotoxicol Teratol. 2012 Jan;34(1):72-82.

A new single-step PCR assay for the detection of the zoonotic malaria parasite Plasmodium knowlesi
Lucchi NW, Poorak M, Oberstaller J, Debarry J, Srinivasamoorthy G, Goldman I, Xayavong M, da Silva AJ, Peterson DS, Barnwell JW, Kissinger J, Udhayakumar V. PLoS One. 2012 ;7(2):e31848.

Pertussis pseudo-outbreak linked to specimens contaminated by Bordetella pertussis DNA from clinic surfaces
Mandal S, Tatti KM, Woods-Stout D, Cassiday PK, Faulkner AE, Griffith MM, Jackson ML, Pawloski LC, Wagner B, Barnes M, Cohn AC, Gershman KA, Messonnier NE, Clark TA, Tondella ML, Martin SW.
Pediatrics. 2012 Jan 16.

Molecular epidemiology of anthrax cases associated with recreational use of animal hides and yarn in the United States
Marston CK, Allen CA, Beaudry J, Price EP, Wolken SR, Pearson T, Keim P, Hoffmaster AR. PLoS One. 2011 ;6(12):e28274.

Molecular dissection of an outbreak of carbapenem-resistant enterobacteriaceae reveals intergenus KPC carbapenemase transmission through a promiscuous plasmid
Mathers AJ, Cox HL, Kitchel B, Bonatti H, Brassinga AK, Carroll J, Scheld WM, Hazen KC, Sifri CD. mBio. 2011 ;2(6):e00204-11.

Introduction to the 4th National Conference on Genomics and Public Health
McBride CM, Bowen SM, Shully SD, Khoury MJ. Public Health Genomics. 2012 ;15(3-4):117.

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
Mechtler TP, Stary S, Metz TF, De Jesus VR, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC. Lancet. 2012 Jan 28;379(9813):335-41.

Evidence-based path to newborn screening for Duchenne muscular dystrophy
Mendell JR, Shilling C, Leslie ND, Flanigan KM, Al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, Hamil C, Mahmoud M, Roush K, Bird L, Rankin C, Lilly H, Street N, Chandrasekar R, Weiss RB. Ann Neurol. 2012 Mar;71(3):304-13.

Genetic diversity of HA1 domain of hemagglutinin gene of pandemic influenza H1N1pdm09 viruses in New Delhi, India
Mir MA, Lal RB, Sullender W, Singh Y, Garten R, Krishnan A, Broor S. J Med Virol. 2012 Mar;84(3):386-93.

Permanent genetic resources added to Molecular Ecology Resources Database 1 October 2011 - 30 November 2011
Molecular Ecology Resources Primer Development Consortium , Abreu AG, Albaina A, Alpermann TJ, Apkenas VE, Bankhead-Dronnet S, Bergek S, Berumen ML, Cho CH, Clobert J, Coulon A, D. E. Feraudy D, Estonba A, Hankeln T, Hochkirch A, Hsu TW, Huang TJ, Irigoien X, Iriondo M, Kay KM, Kinitz T, Kothera L, L. E. Henanff M, Lieutier F, Lourdais O, Macrini CM, Manzano C, Martin C, Morris VR, Nanninga G, Pardo MA, Plieske J, Pointeau S, Prestegaard T, Quack M, Richard M, Savage HM, Schwarcz KD, Shade J, Simms EL, Solferini VN, Stevens VM, Veith M, Wen MJ, Wicker F, Yost JM, Zarraonaindia I. Mol Ecol Resour. 2012 Feb 1.

Using genotyping and geospatial scanning to estimate recent Mycobacterium tuberculosis transmission, United States
Moonan PK, Ghosh S, Oeltmann JE, Kammerer JS, Cowan LS, Navin TR. Emerg Infect Dis. 2012 Mar;18(3):458-65.

Estimating the contribution of genetic variants to difference in incidence of disease between population groups
Moonesinghe R, Ioannidis JP, Flanders WD, Yang Q, Truman BI, Khoury MJ. Eur J Hum Genet. 2012 Feb 15.

Analysis of influenza viruses from patients clinically suspected of infection with an oseltamivir resistant virus during the 2009 pandemic in the United States
Nguyen HT, Trujillo AA, Sheu TG, Levine M, Mishin VP, Shaw M, Ades EW, Klimov AI, Fry AM, Gubareva LV. Antiviral Res. 2012 Mar;93(3):381-6.

A real-time PCR assay for HPV52 detection and viral load quantification
Onyekwuluje JM, Steinau M, Swan DC, Unger ER.
Clin Lab. 2012 ;58(1-2):61-6.

Evidence of purifying selection on merozoite surface protein 8 (MSP8) and 10 (MSP10) in Plasmodium spp
Pacheco MA, Elango AP, Rahman AA, Fisher D, Collins WE, Barnwell JW, Escalante AA.
Infect Genet Evol. 2012 Jul;12(5):978-86.

Integrative deep sequencing of the mouse lung transcriptome reveals differential expression of diverse classes of small RNAs in response to respiratory virus infection
Peng X, Gralinski L, Ferris MT, Frieman MB, Thomas MJ, Proll S, Korth MJ, Tisoncik JR, Heise M, Luo S, Schroth GP, Tumpey TM, Li C, Kawaoka Y, Baric RS, Katze MG. mBio. 2011 ;2(6).

Rapid detection of microbial DNA by a novel isothermal genome exponential amplification reaction (GEAR) assay
Prithiviraj J, Hill V, Jothikumar N. Biochem Biophys Res Commun. 2012 Apr 20;420(4):738-42.

Novel genetic variation identified at fixed loci in ORF62 of the Oka varicella vaccine and in a case of vaccine-associated herpes zoster
Quinlivan ML, Jensen NJ, Radford KW, Schmid DS.
J Clin Microbiol. 2012 Feb 29.

Genetic backgrounds of the Plasmodium falciparum chloroquine resistant transporter (pfcrt) alleles in Pakistan
Rawasia WF, Sridaran S, Patel JC, Abdallah J, Ghanchi NK, Barnwell JW, Escalante AA, Udhayakumar V, Beg MA.
Infect Genet Evol. 2012 Mar;12(2):278-81.

Comparison of DNA extraction methodologies used for assessing fungal diversity via ITS sequencing
Rittenour WR, Park JH, Cox-Ganser JM, Beezhold DH, Green BJ. J Environ Monit. 2012 Jan 9.

Trends in Population-Based Studies of Human Genetics in Infectious Diseases
Rowell J, Dowling N, Yu W, Yesupriya A, Zhang L, Gwinn M, 2012 PLoS ONE 7(2): e25431

Dried blood spot specimens are a suitable alternative sample type for HIV-1 viral load measurement and drug resistance genotyping in patients receiving first-line antiretroviral therapy
Rottinghaus EK, Ugbena R, Diallo K, Bassey O, Azeez A, Devos J, Zhang G, Aberle-Grasse J, Nkengasong J, Yang C. Clin Infect Dis. 2012 Apr;54(8):1187-95.

Using PCR-based detection and genotyping to trace Streptococcus salivarius meningitis outbreak strain to oral flora of radiology physician assistant
Srinivasan V, Gertz RE, Shewmaker PL, Patrick S, Chitnis AS, O'Connell H, Benowitz I, Patel P, Guh AY, Noble-Wang J, Turabelidze G, Beall B. PLoS One. 2012 ;7(2):e32169.

Experiences from the shiga toxin-producing escherichia coli O104:H4 outbreak in Germany and research needs in the field, Berlin, 28-29 November 2011
Stark K, Bauerfeind R, Bernard H, Eckmanns T, Ethelberg S, Flieger A, Giesecke J, Greiner M, Karch H, Krause G, Mielke M, O'Brien SJ, Pulz M, Scheutz F, Schielke A, Stahl RA, Takkinen J, Tarr PI, Tauxe RV, Werber D. Eurosurveillance. 2012 ;17(7).

Performance of commercial reverse line blot assays for HPV genotyping
Steinau M, Onyekwuluje JM, Scarbrough MZ, Unger ER, Dillner J, Zhou T. J Clin Microbiol. 2012 Feb 22.

Convergence and coevolution of Hepatitis B virus drug resistance
Thai H, Campo DS, Lara J, Dimitrova Z, Ramachandran S, Xia G, Ganova-Raeva L, Teo CG, Lok A, Khudyakov Y.
Nat Commun. 2012 ;3:789.

Dengue viremia in blood donors identified by RNA and detection of dengue transfusion transmission during the 2007 dengue outbreak in Puerto Rico
Stramer SL, Linnen JM, Carrick JM, Foster GA, Krysztof DE, Zou S, Dodd RY, Tirado-Marrero LM, Hunsperger E, Santiago GA, Munoz-Jordan JL, Tomashek KM. Transfusion. 2012 Feb 17.

How can we stimulate translational research in cancer genomics beyond bench to bedside?
Schully SD, Benedicto CB, Khoury MJ.  Genet Med. 2012 Jan;14(1):169-70.

Chronic occupational exposure to arsenic induces carcinogenic gene signaling networks and neoplastic transformation in human lung epithelial cells
Stueckle TA, Lu Y, Davis ME, Wang L, Jiang BH, Holaskova I, Schafer R, Barnett JB, Rojanasakul Y. Toxicol Appl Pharmacol. 2012 Apr 13.

Evaluation of new biomarker genes for differentiating Haemophilus influenzae from Haemophilus haemolyticus
Theodore MJ, Anderson RD, Wang X, Katz LS, Vuong JT, Bell ME, Juni BA, Lowther SA, Lynfield R, Macneil JR, Mayer LW. J Clin Microbiol. 2012 Feb 1.

A distinct lineage of influenza A virus from bats
Tong S, Li Y, Rivailler P, Conrardy C, Castillo DA, Chen LM, Recuenco S, Ellison JA, Davis CT, York IA, Turmelle AS, Moran D, Rogers S, Shi M, Tao Y, Weil MR, Tang K, Rowe LA, Sammons S, Xu X, Frace M, Lindblade KA, Cox NJ, Anderson LJ, Rupprecht CE, Donis RO.
Proc Natl Acad Sci U S A. 2012 Feb 27.
Matern Child Health J. 2012 Feb;16(2):486-94.

Pooling nasopharyngeal/throat swab specimens to increase testing capacity for influenza viruses by PCR
Van TT, Miller J, Warshauer DM, Reisdorf E, Jernigan D, Humes R, Shult PA. J Clin Microbiol. 2012 Mar;50(3):891-6.

Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009)
Weck KE, Zehnbauer B, Datto M, Schrijver I. Genet Med. 2012 Mar;14(3):306-12.

First reports of human rotavirus G8P[4] gastroenteritis in the United States
Weinberg GA, Payne DC, Teel EN, Mijatovic-Rustempasic S, Bowen MD, Wikswo M, Gentsch JR, Parashar UD. J Clin Microbiol. 2012 Mar;50(3):1118-21.

Mutational analysis of the West Nile virus NS4B protein
Wicker JA, Whiteman MC, Beasley DW, Davis CT, McGee CE, Lee JC, Higgs S, Kinney RM, Huang CY, Barrett AD. Virology. 2012 Apr 25;426(1):22-33.

Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults
Yang Q, Bailey L, Clarke R, Flanders WD, Liu T, Yesupriya A, Khoury MJ, Friedman JM. Am J Clin Nutr. 2012 Apr 4.

The impact of genomics on public health practice: the case for change
Zimmern RL, Khoury MJ. Public Health Genomics. 2012 ;15(3-4):118-24.

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