Center for Oral Health Research in Appalachia (COHRA) Genomic Studies of Oral Health and Disease

Genome-wide Association Studies

J. R. Shaffer, E. Feingold, M. Marazita. (2012). Journal of Dental Research. Cited 980 times. https://doi.org/10.1177/0022034512446968

Comprehensive literature review and statistical considerations for GWAS meta-analysis

Ferdouse Begum, Debashis Ghosh, George C. Tseng, et al.. (2012). Nucleic Acids Research. Cited 375 times. https://doi.org/10.1093/nar/gkr1255

Comprehensive literature review and statistical considerations for microarray meta-analysis

G. Tseng, D. Ghosh, E. Feingold. (2012). Nucleic Acids Research. Cited 340 times. https://doi.org/10.1093/nar/gkr1265

Variation in actual relationship as a consequence of Mendelian sampling and linkage.

W. G. Hill, B. Weir. (2011). Genetics research. Cited 298 times. https://doi.org/10.1017/S0016672310000480

Enamel Formation Genes Are Associated with High Caries Experience in Turkish Children

A. Patir, F. Seymen, M. Yildirim, et al.. (2008). Caries Research. Cited 171 times. https://doi.org/10.1159/000154785

Possible Association of Amelogenin to High Caries Experience in a Guatemalan-Mayan Population

K. Deeley, A. Letra, E. K. Rose, et al.. (2007). Caries Research. Cited 156 times. https://doi.org/10.1159/000111744

Taste Genes Associated with Dental Caries

S. Wendell, Xiaojing Wang, M. Brown, et al.. (2010). Journal of Dental Research. Cited 153 times. https://doi.org/10.1177/0022034510381502

Caries: Review of Human Genetics Research

A. R. Vieira, A. Modesto, M. Marazita. (2014). Caries Research. Cited 148 times. https://doi.org/10.1159/000358333

Genome-wide Scan Finds Suggestive Caries Loci

A. R. Vieira, M. Marazita, T. Goldstein-McHenry. (2008). Journal of Dental Research. Cited 147 times. https://doi.org/10.1177/154405910808700506

Genes and Their Effects on Dental Caries May Differ between Primary and Permanent Dentitions

Xiaojing Wang, J. Shaffer, R. Weyant, et al.. (2010). Caries Research. Cited 147 times. https://doi.org/10.1159/000314676

Tuftelin, Mutans Streptococci, and Dental Caries Susceptibility

R. Slayton, M. Cooper, M. Marazita. (2005). Journal of Dental Research. Cited 136 times. https://doi.org/10.1177/154405910508400805

Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.

M. Graff, J. Ngwa, J. Ngwa, et al.. (2013). Human molecular genetics. Cited 121 times. https://doi.org/10.1093/hmg/ddt205

Genome-wide Association Scan for Childhood Caries Implicates Novel Genes

J. Shaffer, X. Wang, E. Feingold, et al.. (2011). Journal of Dental Research. Cited 120 times. https://doi.org/10.1177/0022034511422910

Epithelial Integrins with Special Reference to Oral Epithelia

H. Larjava, L. Koivisto, L. Häkkinen, et al.. (2011). Journal of Dental Research. Cited 119 times. https://doi.org/10.1177/0022034511402207

Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence

D. Hancock, Yuelong Guo, Gunnar W. Reginsson, et al.. (2017). Molecular psychiatry. Cited 115 times. https://doi.org/10.1038/mp.2017.193

Characterization of large structural genetic mosaicism in human autosomes.

M. Machiela, Weiyin Zhou, J. Sampson, et al.. (2015). American journal of human genetics. Cited 111 times. https://doi.org/10.1016/j.ajhg.2015.01.011

Study protocol of the Center for Oral Health Research in Appalachia (COHRA) etiology study

D. Polk, R. Weyant, R. Crout, et al.. (2008). BMC Oral Health. Cited 90 times. https://doi.org/10.1186/1472-6831-8-18

GWAS of Dental Caries Patterns in the Permanent Dentition

J. Shaffer, Eleanor Feingold, Xiaojing Wang, et al.. (2013). Journal of Dental Research. Cited 87 times. https://doi.org/10.1177/0022034512463579

Genome-wide association Scan of dental caries in the permanent dentition

Xiaojing Wang, J. Shaffer, Z. Zeng, et al.. (2012). BMC Oral Health. Cited 86 times. https://doi.org/10.1186/1472-6831-12-57

Genetic correlation between smoking behaviors and schizophrenia

Sarah M. Hartz, A. Horton, D. Hancock, et al.. (2017). Schizophrenia Research. Cited 85 times. https://doi.org/10.1016/j.schres.2017.02.022

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers.

Sarah M. Hartz, S. Short, N. Saccone, et al.. (2012). Archives of general psychiatry. Cited 80 times. https://doi.org/10.1001/archgenpsychiatry.2012.124

Genetic Susceptibility to Dental Caries Differs between the Sexes: A Family-Based Study

J. Shaffer, Xiaojing Wang, D. McNeil, et al.. (2015). Caries Research. Cited 79 times. https://doi.org/10.1159/000369103

Caries Experience Differs between Females and Males across Age Groups in Northern Appalachia

J. Shaffer, E. Leslie, E. Feingold, et al.. (2015). International Journal of Dentistry. Cited 72 times. https://doi.org/10.1155/2015/938213

Fear of Pain Questionnaire‐9: Brief assessment of pain‐related fear and anxiety

D. McNeil, S. G. Kennedy, C. Randall, et al.. (2017). European Journal of Pain (London, England). Cited 70 times. https://doi.org/10.1002/ejp.1074

Genome-wide Association Studies of Pit-and-Fissure- and Smooth-surface Caries in Permanent Dentition

Zhen Zeng, J. Shaffer, Xiaojing Wang, et al.. (2013). Journal of Dental Research. Cited 64 times. https://doi.org/10.1177/0022034513481976

Detectable clonal mosaicism from birth to old age and its relationship to cancer

Cathy C. Laurie, C. Laurie, Kenneth M. Rice, et al.. (2012). Nature genetics. Cited 62 times. https://doi.org/10.1038/ng.2271

Genome-Wide Association Study of Periodontal Health Measured by Probing Depth in Adults Ages 18−49 years

J. Shaffer, D. Polk, Xiaojing Wang, et al.. (2013). G3: Genes|Genomes|Genetics. Cited 62 times. https://doi.org/10.1534/g3.113.008755

Vaginal and oral microbes, host genotype and preterm birth.

U. Srinivasan, D. Misra, M. Marazita, et al.. (2009). Medical hypotheses. Cited 60 times. https://doi.org/10.1016/j.mehy.2009.06.017

Genetic Susceptibility to Dental Caries on Pit and Fissure and Smooth Surfaces

J. Shaffer, Xuexia Wang, R. DeSensi, et al.. (2012). Caries Research. Cited 60 times. https://doi.org/10.1159/000335099

Phenotype harmonization and cross‐study collaboration in GWAS consortia: the GENEVA experience

Siiri N. Bennett, N. Caporaso, A. Fitzpatrick, et al.. (2011). Genetic Epidemiology. Cited 57 times. https://doi.org/10.1002/gepi.20564

Hair keratin mutations in tooth enamel increase dental decay risk.

O. Duverger, T. Ohara, J. Shaffer, et al.. (2014). The Journal of clinical investigation. Cited 51 times. https://doi.org/10.1172/JCI78272

Genome-Wide Association Study Identifies Four Loci Associated with Eruption of Permanent Teeth

F. Geller, B. Feenstra, Hao Zhang, et al.. (2011). PLoS Genetics. Cited 48 times. https://doi.org/10.1371/journal.pgen.1002275

Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21

Tiffany R. Oliver, S. Tinker, E. Allen, et al.. (2011). Human Genetics. Cited 46 times. https://doi.org/10.1007/s00439-011-1121-7

Gagging and its associations with dental care-related fear, fear of pain and beliefs about treatment.

C. Randall, Grant P Shulman, R. Crout, et al.. (2014). Journal of the American Dental Association. Cited 46 times. https://doi.org/10.14219/jada.2013.50

Oral Health in a Sample of Pregnant Women from Northern Appalachia (2011–2015)

K. Neiswanger, D. McNeil, B. Foxman, et al.. (2015). International Journal of Dentistry. Cited 44 times. https://doi.org/10.1155/2015/469376

Effects of enamel matrix genes on dental caries are moderated by fluoride exposures

J. Shaffer, Jenna C. Carlson, Brooklyn Stanley, et al.. (2014). Human Genetics. Cited 43 times. https://doi.org/10.1007/s00439-014-1504-7

Rapid Testing of SNPs and Gene–Environment Interactions in Case–Parent Trio Data Based on Exact Analytic Parameter Estimation

H. Schwender, M. Taub, T. Beaty, et al.. (2012). Biometrics. Cited 40 times. https://doi.org/10.1111/j.1541-0420.2011.01713.x

Measuring alcohol consumption for genomic meta-analyses of alcohol intake: opportunities and challenges.

A. Agrawal, N. Freedman, Yuching Cheng, et al.. (2012). The American journal of clinical nutrition. Cited 39 times. https://doi.org/10.3945/ajcn.111.015545

Heritable patterns of tooth decay in the permanent dentition: principal components and factor analyses

J. Shaffer, E. Feingold, Xiaojing Wang, et al.. (2012). BMC Oral Health. Cited 39 times. https://doi.org/10.1186/1472-6831-12-7

Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries

Zhen Zeng, E. Feingold, Xiao-Jing Wang, et al.. (2014). Caries Research. Cited 39 times. https://doi.org/10.1159/000356299

Effects of Specimen Collection Methodologies and Storage Conditions on the Short-Term Stability of Oral Microbiome Taxonomy

T. Luo, U. Srinivasan, K. Ramadugu, et al.. (2016). Applied and Environmental Microbiology. Cited 39 times. https://doi.org/10.1128/AEM.01132-16

Toward a genetic understanding of dental fear: evidence of heritability

C. Randall, J. Shaffer, D. McNeil, et al.. (2017). Community Dentistry and Oral Epidemiology. Cited 39 times. https://doi.org/10.1111/cdoe.12261

Distinct Loci in the CHRNA5/CHRNA3/CHRNB4 Gene Cluster Are Associated With Onset of Regular Smoking

Sarah H. Stephens, Sarah M. Hartz, Nicole R. Hoft, et al.. (2013). Genetic Epidemiology. Cited 35 times. https://doi.org/10.1002/gepi.21760

Periodontal Status and Quality of Life: Impact of Fear of Pain and Dental Fear

C. Wright, D. McNeil, Cierra B. Edwards, et al.. (2017). Pain Research & Management. Cited 34 times. https://doi.org/10.1155/2017/5491923

Demographic, socioeconomic, and behavioral factors affecting patterns of tooth decay in the permanent dentition: principal components and factor analyses.

J. Shaffer, D. Polk, E. Feingold, et al.. (2013). Community dentistry and oral epidemiology. Cited 33 times. https://doi.org/10.1111/cdoe.12016

Use of 16S ribosomal RNA gene analyses to characterize the bacterial signature associated with poor oral health in West Virginia

J. Olson, C. Cuff, S. Lukomski, et al.. (2011). BMC Oral Health. Cited 32 times. https://doi.org/10.1186/1472-6831-11-7

Clustering Tooth Surfaces into Biologically Informative Caries Outcomes

J. Shaffer, Eleanor Feingold, Xiaojing Wang, et al.. (2013). Journal of Dental Research. Cited 31 times. https://doi.org/10.1177/0022034512463241

A comparison of principal component analysis and factor analysis strategies for uncovering pleiotropic factors

Xiaojing Wang, C. Kammerer, S. Anderson, et al.. (2009). Genetic Epidemiology. Cited 29 times. https://doi.org/10.1002/gepi.20384

Genetic Association of MPPED2 and ACTN2 with Dental Caries

Brooklyn Stanley, E. Feingold, M. Cooper, et al.. (2014). Journal of Dental Research. Cited 29 times. https://doi.org/10.1177/0022034514534688

Oral health disparities in Appalachia: orthodontic treatment need and demand.

Chris A. Martin, D. McNeil, R. Crout, et al.. (2008). Journal of the American Dental Association. Cited 28 times. https://doi.org/10.14219/JADA.ARCHIVE.2008.0221

Implications of the human microbiome project for epidemiology.

B. Foxman, Mariana Rosenthal. (2013). American journal of epidemiology. Cited 28 times. https://doi.org/10.1093/aje/kws449

Exploring the genomic basis of early childhood caries: a pilot study

Jami Ballantine, Jenna C. Carlson, A. F. Ferreira Zandoná, et al.. (2017). International Journal of Paediatric Dentistry. Cited 28 times. https://doi.org/10.1111/ipd.12344

Human Telomere Length Correlates to the Size of the Associated Chromosome Arm

Jasen L. Wise, R. Crout, D. McNeil, et al.. (2009). PLoS ONE. Cited 27 times. https://doi.org/10.1371/journal.pone.0006013

Multi-Dimensional Prioritization of Dental Caries Candidate Genes and Its Enriched Dense Network Modules

Quan Wang, P. Jia, K. Cuenco, et al.. (2013). PLoS ONE. Cited 27 times. https://doi.org/10.1371/journal.pone.0076666

Depression and Rural Environment Are Associated With Poor Oral Health Among Pregnant Women in Northern Appalachia

D. McNeil, Sarah E. Hayes, C. Randall, et al.. (2016). Behavior Modification. Cited 27 times. https://doi.org/10.1177/0145445515615353

The effects of family, dentition, and dental caries on the salivary microbiome.

B. Foxman, T. Luo, U. Srinivasan, et al.. (2016). Annals of epidemiology. Cited 27 times. https://doi.org/10.1016/j.annepidem.2016.03.006

Fear of Pain Mediates the Association between MC1R Genotype and Dental Fear

C. Randall, D. McNeil, J. Shaffer, et al.. (2016). Journal of Dental Research. Cited 27 times. https://doi.org/10.1177/0022034516661151

Comparative whole-genome analysis of Streptococcus mutans isolates within and among individuals of different caries status.

Lixin Zhang, Betsy Foxman, David R. Drake, et al.. (2009). Oral microbiology and immunology. Cited 26 times. https://doi.org/10.1111/j.1399-302X.2008.00495.x

Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21.

Candace D. Middlebrooks, N. Mukhopadhyay, S. Tinker, et al.. (2014). Human molecular genetics. Cited 26 times. https://doi.org/10.1093/hmg/ddt433

Characterization and Correction of Error in Genome‐Wide IBD Estimation for Samples with Population Structure

J. Morrison. (2013). Genetic Epidemiology. Cited 25 times. https://doi.org/10.1002/gepi.21737

Exploring the effect of dentition, dental decay and familiality on oral health using metabolomics.

B. Foxman, U. Srinivasan, Ai Wen, et al.. (2014). Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases. Cited 25 times. https://doi.org/10.1016/j.meegid.2013.09.020

Improving Children’s Oral Health

P. Casamassimo, P. Casamassimo, Jessica Y. Lee, et al.. (2014). Journal of Dental Research. Cited 24 times. https://doi.org/10.1177/0022034514547273

Comorbid depression/anxiety and teeth removed: Behavioral Risk Factor Surveillance System 2010.

R. Wiener, M. Wiener, D. McNeil. (2015). Community dentistry and oral epidemiology. Cited 24 times. https://doi.org/10.1111/cdoe.12168

Women Are More Susceptible to Caries but Individuals Born with Clefts Are Not

A. Jindal, M. McMeans, S. Narayanan, et al.. (2011). International Journal of Dentistry. Cited 23 times. https://doi.org/10.1155/2011/454532

A Preliminary Genome-Wide Association Study of Pain-Related Fear: Implications for Orofacial Pain

C. Randall, C. Wright, J. Chernus, et al.. (2017). Pain Research & Management. Cited 22 times. https://doi.org/10.1155/2017/7375468

Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay

O. Duverger, Jenna C. Carlson, C. Karacz, et al.. (2018). PLoS Genetics. Cited 22 times. https://doi.org/10.1371/journal.pgen.1007168

Association Signals Unveiled by a Comprehensive Gene Set Enrichment Analysis of Dental Caries Genome-Wide Association Studies

Quan Wang, P. Jia, K. Cuenco, et al.. (2013). PLoS ONE. Cited 16 times. https://doi.org/10.1371/journal.pone.0072653

Effects of Smoking and Genotype on the PSR Index of Periodontal Disease in Adults Aged 18–49

D. Polk, Xiaojing Wang, E. Feingold, et al.. (2012). International Journal of Environmental Research and Public Health. Cited 15 times. https://doi.org/10.3390/ijerph9082839

A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts.

Samuel G. Younkin, R. Scharpf, H. Schwender, et al.. (2015). Birth defects research. Part A, Clinical and molecular teratology. Cited 15 times. https://doi.org/10.1002/bdra.23362

Genetic Association of MMP10, MMP14, and MMP16 with Dental Caries

D. Lewis, John R. Shaffer, Eleanor Feingold, et al.. (2017). International Journal of Dentistry. Cited 15 times. https://doi.org/10.1155/2017/8465125

Variants on chromosome 4q21 near PKD2 and SIBLINGs are associated with dental caries

Scott Eckert, E. Feingold, M. Cooper, et al.. (2016). Journal of human genetics. Cited 14 times. https://doi.org/10.1038/jhg.2016.161

Detection of Streptococcus mutans Genomic DNA in Human DNA Samples Extracted from Saliva and Blood

A. R. Vieira, K. Deeley, N. Callahan, et al.. (2011). ISRN Dentistry. Cited 13 times. https://doi.org/10.5402/2011/543561

Why the human microbiome project should motivate epidemiologists to learn ecology.

B. Foxman, D. Goldberg. (2010). Epidemiology. Cited 11 times. https://doi.org/10.1097/EDE.0b013e3181f4e1f9

Using Family Data as a Verification Standard to Evaluate Copy Number Variation Calling Strategies for Genetic Association Studies

Xiaojing Zheng, J. Shaffer, Caitlin P. McHugh, et al.. (2012). Genetic Epidemiology. Cited 11 times. https://doi.org/10.1002/gepi.21618

Caries Resistance as a Function of Age in an Initially Caries-free Population

Ai Wen, Deborah E. Goldberg, C. Marrs, et al.. (2012). Journal of Dental Research. Cited 10 times. https://doi.org/10.1177/0022034512450174

Genome-Wide Association Study of Meiotic Recombination Phenotypes

F. Begum, Reshmi Chowdhury, V. Cheung, et al.. (2016). G3: Genes|Genomes|Genetics. Cited 10 times. https://doi.org/10.1534/g3.116.035766

Orthodontic Treatment Completion and Discontinuation in a Rural Sample from North Central Appalachia in the USA

Chris A. Martin, Breana M. Dieringer, D. McNeil. (2017). Frontiers in Public Health. Cited 9 times. https://doi.org/10.3389/fpubh.2017.00171

Cryptic Subtelomeric Rearrangements and X Chromosome Mosaicism: A Study of 565 Apparently Normal Individuals with Fluorescent In Situ Hybridization

Jasen L. Wise, R. Crout, D. McNeil, et al.. (2009). PLoS ONE. Cited 6 times. https://doi.org/10.1371/journal.pone.0005855

Collecting psychosocial self-report data in oral health research: impact of literacy level and computerised administration.

C. Randall, D. McNeil, R. Crout, et al.. (2013). Social science and dentistry. Cited 6 times.

Genome-wide Two-marker linkage disequilibrium mapping of quantitative trait loci

Jie Yang, Wei Zhu, Jiansong Chen, et al.. (2014). BMC Genetics. Cited 6 times. https://doi.org/10.1186/1471-2156-15-20

Acquired chromosomal anomalies in chronic lymphocytic leukemia patients compared with more than 50,000 quasi-normal participants.

C. Laurie, C. Laurie, S. Smoley, et al.. (2014). Cancer genetics. Cited 6 times. https://doi.org/10.1016/j.cancergen.2014.01.004

Association of Breastfeeding and the Federal Poverty Level: National Survey of Family Growth, 2011–2013

R. Wiener, U. Sambamoorthi, Sarah E. Hayes, et al.. (2016). Epidemiology Research International. Cited 6 times. https://doi.org/10.1155/2016/9783704

Regionally Smoothed Meta‐Analysis Methods for GWAS Datasets

F. Begum, Monir H. Sharker, S. Sherman, et al.. (2016). Genetic Epidemiology. Cited 5 times. https://doi.org/10.1002/gepi.21949

A Pipeline for Classifying Relationships Using Dense SNP/SNV Data and Putative Pedigree Information

Z. Zeng, D. Weeks, Wei Chen, et al.. (2016). Genetic Epidemiology. Cited 5 times. https://doi.org/10.1002/gepi.21948

Bayesian Analysis of the Association between Family-Level Factors and Siblings’ Dental Caries

Ai Wen, R. Weyant, D. McNeil, et al.. (2017). JDR Clinical & Translational Research. Cited 5 times. https://doi.org/10.1177/2380084417698103

Relationship of Edentulism, Sleep Disordered Breathing and Cardiovascular Disease: NHANES, 2007-2008

R. Wiener. (2015). Cardiology and angiology. Cited 4 times. https://doi.org/10.9734/CA/2015/17944

Is the Fagerström test for nicotine dependence invariant across secular trends in smoking? A question for cross-birth cohort analysis of nicotine dependence.

C. Glasheen, Eric O. Johnson, N. Saccone, et al.. (2018). Drug and alcohol dependence. Cited 3 times. https://doi.org/10.1016/j.drugalcdep.2017.12.013