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1.  Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course 
Human Molecular Genetics  2013;22(17):3597-3607.
Genetic loci for body mass index (BMI) in adolescence and young adulthood, a period of high risk for weight gain, are understudied, yet may yield important insight into the etiology of obesity and early intervention. To identify novel genetic loci and examine the influence of known loci on BMI during this critical time period in late adolescence and early adulthood, we performed a two-stage meta-analysis using 14 genome-wide association studies in populations of European ancestry with data on BMI between ages 16 and 25 in up to 29 880 individuals. We identified seven independent loci (P < 5.0 × 10−8) near FTO (P = 3.72 × 10−23), TMEM18 (P = 3.24 × 10−17), MC4R (P = 4.41 × 10−17), TNNI3K (P = 4.32 × 10−11), SEC16B (P = 6.24 × 10−9), GNPDA2 (P = 1.11 × 10−8) and POMC (P = 4.94 × 10−8) as well as a potential secondary signal at the POMC locus (rs2118404, P = 2.4 × 10−5 after conditioning on the established single-nucleotide polymorphism at this locus) in adolescents and young adults. To evaluate the impact of the established genetic loci on BMI at these young ages, we examined differences between the effect sizes of 32 published BMI loci in European adult populations (aged 18–90) and those observed in our adolescent and young adult meta-analysis. Four loci (near PRKD1, TNNI3K, SEC16B and CADM2) had larger effects and one locus (near SH2B1) had a smaller effect on BMI during adolescence and young adulthood compared with older adults (P < 0.05). These results suggest that genetic loci for BMI can vary in their effects across the life course, underlying the importance of evaluating BMI at different ages.
doi:10.1093/hmg/ddt205
PMCID: PMC3736869  PMID: 23669352
2.  Genome-Wide Association Study of Periodontal Health Measured by Probing Depth in Adults Ages 18−49 years 
G3: Genes|Genomes|Genetics  2013;4(2):307-314.
The etiology of chronic periodontitis clearly includes a heritable component. Our purpose was to perform a small exploratory genome-wide association study in adults ages 18–49 years to nominate genes associated with periodontal disease−related phenotypes for future consideration. Full-mouth periodontal pocket depth probing was performed on participants (N = 673), with affected status defined as two or more sextants with probing depths of 5.5 mm or greater. Two variations of this phenotype that differed in how missing teeth were treated were used in analysis. More than 1.2 million genetic markers across the genome were genotyped or imputed and tested for genetic association. We identified ten suggestive loci (p-value ≤ 1E-5), including genes/loci that have been previously implicated in chronic periodontitis: LAMA2, HAS2, CDH2, ESR1, and the genomic region on chromosome 14q21-22 between SOS2 and NIN. Moreover, we nominated novel loci not previously implicated in chronic periodontitis or related pathways, including the regions 3p22 near OSBPL10 (a lipid receptor implicated in hyperlipidemia), 4p15 near HSP90AB2P (a heat shock pseudogene), 11p15 near GVINP1 (a GTPase pseudogene), 14q31 near SEL1L (an intracellular transporter), and 18q12 in FHOD3 (an actin cytoskeleton regulator). Replication of these results in additional samples is needed. This is one of the first research efforts to identify genetic polymorphisms associated with chronic periodontitis-related phenotypes by the genome-wide association study approach. Though small, efforts such this are needed in order to nominate novel genes and generate new hypotheses for exploration and testing in future studies.
doi:10.1534/g3.113.008755
PMCID: PMC3931564  PMID: 24347629
GWAS; chronic periodontitis
3.  Hygiene Self-Care of Older Adults in West Virginia: Effects of Gender 
Purpose
This study investigated whether oral hygiene self-care behavior differs between genders in older adults in Appalachia, a geographic area with significant oral health concerns. Identifying the practices of older adults may provide valuable information for designing interventions, and improving overall oral health outcomes.
Methods
As part of a larger, on-going study on cognition and oral health in later life in Appalachia, a sample of dentate, older adults without dementia aged 70 and above (n =245, 86 men and 159 women) received an oral assessment by either a dentist or dental hygienist. Psychometricians assessed cognition using a standardized battery of neuropsychological tests. They also administered the General Oral Health Assessment Index and conducted structured interviews concerning diet, oral hygiene practices, oral health, social support, income, and years of education.
Results
Over 80% of women (n = 128) and 52.3% of men (n = 45) reported brushing their teeth twice daily. Multivariate logistic regression analysis was conducted, controlling for socioeconomic status, social support (i.e., frequency of contacting friends and relatives), general oral health assessment items, number of decayed, missing, and filled surfaces, plaque index, and having regular dental visits. The results showed that women reported more frequent toothbrushing than their male counterparts (OR=4.04, 95% CI:1.93,8.42).
Conclusion
Older women in West Virginia had significantly better oral hygiene practices than older men, particularly regarding toothbrushing. Interventions are needed to improve older men’s dental hygiene behaviors to improve overall oral health outcomes.
PMCID: PMC3607540  PMID: 22947846
aged; self-care; gender differences; preventive behavior; Appalachia; oral hygiene
4.  Effects of Smoking and Genotype on the PSR Index of Periodontal Disease in Adults Aged 18–49 
Studies have found both genetic and environmental influences on chronic periodontitis. The purpose of this study was to examine the relationships among previously identified genetic variants, smoking status, and two periodontal disease-related phenotypes (PSR1 and PSR2) in 625 Caucasian adults (aged 18–49 years). The PSR Index was used to classify participants as affected or unaffected under the PSR1 and PSR2 phenotype definitions. Using logistic regression, we found that the form of the relationship varied by single nucleotide polymorphism (SNP): For rs10457525 and rs12630931, the effects of smoking and genotype on risk were additive; whereas for rs10457526 and rs733048, smoking was not independently associated with affected status once genotype was taken into consideration. In contrast, smoking moderated the relationships of rs3870371 and rs733048 with affected status such that former and never smokers with select genotypes were at increased genetic risk. Thus, for several groups, knowledge of genotype may refine the risk prediction over that which can be determined by knowledge of smoking status alone. Future studies should replicate these findings. These findings provide the foundation for the exploration of novel pathways by which periodontitis may occur.
doi:10.3390/ijerph9082839
PMCID: PMC3447590  PMID: 23066400
adult; chronic periodontitis; genetics; genomics; smoking
5.  Recruitment of rural and cognitively impaired older adults for dental research 
The recruitment of community-dwelling older adults, particularly those with cognitive impairment and those residing in rural areas, has been consistently challenging for researchers, especially in the dental field. This study reports on recruitment experiences from an ongoing study investigating the association between oral health and cognitive status in later life. Multiple recruitment strategies, including educational presentations and traveling to participants’ homes, were used to enroll rural elderly participants with various levels of cognitive function. In general, multi-pronged, proactive recruitment strategies were more effective than traditional, passive methods in reaching participants with varying degrees of cognitive impairment.
The outcome of this study suggests that successful recruitment of such populations involves gaining the support of staff at relevant community organizations, informing community members (including older adults and their family members) of the project and the importance of oral health, and making data collection sites accessible for older adults.
doi:10.1111/j.1754-4505.2010.00150.x
PMCID: PMC2939742  PMID: 20831737
recruitment; elders; rural; cognitive impairment; underrepresented populations
6.  Differences in Self-Reported Oral Health Among Community-Dwelling Black, Hispanic, and White Elders 
Journal of aging and health  2010;23(2):267-288.
Objectives
To compare differences in self-rated oral health among community-dwelling Black, Hispanic, and White adults aged 60 and older.
Method
A total of 4,859 participants in the National Health and Nutrition Examination Survey (1999–2004) provided self-report information on oral health.
Results
Blacks and Hispanics reported poorer self-rated oral health than Whites. In separate dentate and edentulous groups, socioeconomic status, social support, physical health, clinical oral health outcomes, and dental checkups accounted for much of the difference in self-rated oral health in Blacks, but significant differences remained for Hispanics.
Discussion
The study findings may have important implications for health policy and program development. Programs and services designed for minority populations should target treatments for dental diseases and include components that take into account subjective evaluations of oral health conditions and perceived dental needs of the individuals.
doi:10.1177/0898264310382135
PMCID: PMC3129602  PMID: 20858912
Hispanic health; African Americans; social factors; geriatrics
7.  Use of 16S ribosomal RNA gene analyses to characterize the bacterial signature associated with poor oral health in West Virginia 
BMC Oral Health  2011;11:7.
Background
West Virginia has the worst oral health in the United States, but the reasons for this are unclear. This pilot study explored the etiology of this disparity using culture-independent analyses to identify bacterial species associated with oral disease.
Methods
Bacteria in subgingival plaque samples from twelve participants in two independent West Virginia dental-related studies were characterized using 16S rRNA gene sequencing and Human Oral Microbe Identification Microarray (HOMIM) analysis. Unifrac analysis was used to characterize phylogenetic differences between bacterial communities obtained from plaque of participants with low or high oral disease, which was further evaluated using clustering and Principal Coordinate Analysis.
Results
Statistically different bacterial signatures (P < 0.001) were identified in subgingival plaque of individuals with low or high oral disease in West Virginia based on 16S rRNA gene sequencing. Low disease contained a high frequency of Veillonella and Streptococcus, with a moderate number of Capnocytophaga. High disease exhibited substantially increased bacterial diversity and included a large proportion of Clostridiales cluster bacteria (Selenomonas, Eubacterium, Dialister). Phylogenetic trees constructed using 16S rRNA gene sequencing revealed that Clostridiales were repeated colonizers in plaque associated with high oral disease, providing evidence that the oral environment is somehow influencing the bacterial signature linked to disease.
Conclusions
Culture-independent analyses identified an atypical bacterial signature associated with high oral disease in West Virginians and provided evidence that the oral environment influenced this signature. Both findings provide insight into the etiology of the oral disparity in West Virginia.
doi:10.1186/1472-6831-11-7
PMCID: PMC3061962  PMID: 21362199
8.  Self-reported dental hygiene, obesity, and systemic inflammation in a pediatric rural community cohort 
BMC Oral Health  2010;10:21.
Background
A growing body of epidemiologic evidence links oral health, obesity, and cardiovascular health, though few studies have reported on these relationships in children. While underlying mechanisms are unclear, adult studies have suggested sub-acute systemic inflammation, also implicated in the etiology of both obesity and cardiovascular disease. This study investigated associations between self-reported dental hygiene, obesity, and systemic inflammation in children.
Methods
128 children < 19 years of age from rural counties in West Virginia participated in a community-based health screening that included anthropometric assessments, blood collection, and a questionnaire about dental hygiene and self-assessed oral health.
Results
Participants ranged from 3.0-18.7 years. Univariate analysis demonstrated an association between parent-reported dental hygiene, including frequency of preventive dental care and parent-assessed overall dental health, and markers of systemic inflammation but not obesity. In multivariable regression, parent-assessed overall dental health and obesity were independent predictors of systemic inflammation, after adjustment for age, gender, and parent education.
Conclusions
This is the first known study of the association between dental hygiene, obesity, and systemic inflammation in children. These results highlight the importance of preventive dental care in overall, systemic health in children and are consistent with previous reports in adults.
doi:10.1186/1472-6831-10-21
PMCID: PMC2954840  PMID: 20849640
9.  Human Telomere Length Correlates to the Size of the Associated Chromosome Arm 
PLoS ONE  2009;4(6):e6013.
The majority of human telomere length studies have focused on the overall length of telomeres within a cell. In fact, very few studies have examined telomere length for individual chromosome arms. The objective of this study was to examine the relationship between chromosome arm size and the relative length of the associated telomere. Quantitative Fluorescence In Situ Hybridization (Q-FISH) was used to measure the relative telomere length of each chromosome arm in metaphases from cultured lymphocytes of 17 individuals. A statistically significant positive correlation (r = 0.6) was found between telomere length and the size of the associated chromosome arm, which was estimated based on megabase pair measurements from http://www.ncbi.nlm.nih.gov/projects/mapview/.
doi:10.1371/journal.pone.0006013
PMCID: PMC2695537  PMID: 19547752
10.  Cryptic Subtelomeric Rearrangements and X Chromosome Mosaicism: A Study of 565 Apparently Normal Individuals with Fluorescent In Situ Hybridization 
PLoS ONE  2009;4(6):e5855.
Five percent of patients with unexplained mental retardation have been attributed to cryptic unbalanced subtelomeric rearrangements. Half of these affected individuals have inherited the rearrangement from a parent who is a carrier for a balanced translocation. However, the frequency of carriers for cryptic balanced translocations is unknown. To determine this frequency, 565 phenotypically normal unrelated individuals were examined for balanced subtelomeric rearrangements using Fluorescent In Situ hybridization (FISH) probes for all subtelomere regions. While no balanced subtelomeric rearrangements were identified, three females in this study were determined to be mosaic for the X chromosome. Mosaicism for XXX cell lines were observed in the lymphocyte cultures of 3 in 379 women (0.8%), which is a higher frequency than the 1 in 1000 (0.1%) reported for sex chromosome aneuploidies. Our findings suggest that numerical abnormalities of the X chromosome are more common in females than previously reported. Based on a review of the literature, the incidence of cryptic translocation carriers is estimated to be approximately 1/8,000, more than ten-fold higher than the frequency of visible reciprocal translocations.
doi:10.1371/journal.pone.0005855
PMCID: PMC2688762  PMID: 19516895
11.  Study protocol of the Center for Oral Health Research in Appalachia (COHRA) etiology study 
BMC Oral Health  2008;8:18.
Background
People in Appalachia experience some of the worst oral health in the United States. To develop effective intervention and prevention strategies in Appalachia, we must understand the complex relationships among the contributing factors and how they affect the etiology of oral diseases. To date, no such comprehensive analysis has been conducted. This report summarizes the characteristics of the sample and describes the protocol of a study determining contributions of individual, family, and community factors to oral diseases in Appalachian children and their relatives.
Methods/Design
Families participated in a comprehensive assessment protocol involving interviews, questionnaires, a clinical oral health assessment, a microbiological assessment, and collection of DNA. The design of the study is cross-sectional.
Conclusion
Due to its multilevel design and large, family-based sample, this study has the potential to greatly advance our understanding of factors that contribute to oral health in Appalachian children.
doi:10.1186/1472-6831-8-18
PMCID: PMC2443132  PMID: 18522740

Results 1-11 (11)