Dataset Information

Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.

ABSTRACT: 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.

SUBMITTER: Shaffer JR

PROVIDER: S-EPMC3931564 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.

Shaffer John R JR Polk Deborah E DE Wang Xiaojing X Feingold Eleanor E Weeks Daniel E DE Lee Myoung-Keun MK Cuenco Karen T KT Weyant Robert J RJ Crout Richard J RJ McNeil Daniel W DW Marazita Mary L ML

G3 (Bethesda, Md.) 20140219 2

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 d ...[more]

PMID: 24347629

Similar Datasets

Project description:ImportanceStroke remains the second leading cause of death worldwide. Approximately 10% to 15% of all strokes occur in young adults. Information on prognosis and mortality specifically in young adults is limited.ObjectiveTo determine short- and long-term mortality risk after stroke in young adults, according to age, sex, and stroke subtype; time trends in mortality; and causes of death.Design, setting, and participantsRegistry- and population-based study in the Netherlands of 15 527 patients aged 18 to 49 years with first stroke between 1998 and 2010, and follow-up until January 1, 2017. Patients and outcomes were identified through linkage of the national Hospital Discharge Registry, national Cause of Death Registry, and the Dutch Population Register.ExposuresFirst stroke occurring at age 18 to 49 years, documented using International Classification of Diseases, Ninth Revision, and International Statistical Classification of Diseases and Related Health Problems, Tenth Revision, codes for ischemic stroke, intracerebral hemorrhage, and stroke not otherwise specified.Main outcomes and measuresPrimary outcome was all-cause cumulative mortality in 30-day survivors at end of follow-up, stratified by age, sex, and stroke subtype, and compared with all-cause cumulative mortality in the general population.ResultsThe study population included 15 527 patients with stroke (median age, 44 years [interquartile range, 38-47 years]; 53.3% women). At end of follow-up, a total of 3540 cumulative deaths had occurred, including 1776 deaths within 30 days after stroke and 1764 deaths (23.2%) during a median duration of follow-up of 9.3 years (interquartile range, 5.9-13.1 years). The 15-year mortality in 30-day survivors was 17.0% (95% CI, 16.2%-17.9%). The standardized mortality rate compared with the general population was 5.1 (95% CI, 4.7-5.4) for ischemic stroke (observed mortality rate 12.0/1000 person-years [95% CI, 11.2-12.9/1000 person-years]; expected rate, 2.4/1000 person-years; excess rate, 9.6/1000 person-years) and the standardized mortality rate for intracerebral hemorrhage was 8.4 (95% CI, 7.4-9.3; observed rate, 18.7/1000 person-years [95% CI, 16.7-21.0/1000 person-years]; expected rate, 2.2/1000 person-years; excess rate, 16.4/1000 person-years).Conclusions and relevanceAmong young adults aged 18 to 49 years in the Netherlands who were 30-day survivors of first stroke, mortality risk compared with the general population remained elevated up to 15 years later.

Project description:ImportanceUS adults born from 1965 to 1996 had high exposure to controlled medications, yet little is known about how this exposure has affected them over time. Prescription drug misuse (PDM) has increased among adults in the past 2 decades, with related increases in emergency department visits, overdoses, and deaths.ObjectivesTo identify 32-year PDM trajectories involving opioids, stimulants, and sedatives or tranquilizers and to examine associations between these PDM trajectories and substance use disorder (SUD) symptoms in adulthood as well as between baseline characteristics and PDM trajectories.Design, setting, and participantsThis cohort study included 11 cohorts of adolescents who were followed up longitudinally from age 18 years (study start, 1976-1986) to age 50 years (2008-2018) in the Monitoring the Future (MTF) study, which included a national multistage random sample of US 12th grade students. Baseline surveys (modal age 18) were self-administered in classrooms. Ten follow-ups were conducted by mail. Data analysis was conducted from December 2020 to October 2021.Main outcomes and measuresSociodemographic variables were measured at baseline. PDM and SUD symptoms were measured at baseline and every follow-up. Latent profile analysis (LPA) was used to create PDM trajectory profiles. Associations between these PDM trajectories, SUD symptoms, and baseline sociodemographic characteristics were examined.ResultsThe sample of 26 575 individuals was 50.8% (95% CI, 50.2%-51.4%) female and 79.3% (95% CI, 78.8%-79.8%) White. The baseline response rate ranged from 77% to 84%, and the 32-year retention rate was 53%. In adjusting for attrition, 45.7% (95% CI, 44.9%-46.4%) of the respondents reported past-year PDM at least once during the 32-year reporting period. Among those who reported PDM, the prevalence of poly-PDM was 40.3% (95% CI, 39.3%-41.3%). Based on LPA, the number of class-specific PDM trajectories ranged from 4 (prescription opioids) to 6 (prescription stimulants). For the class-combined analyses, we identified 8 PDM trajectories consisting of early peak trajectories (eg, age 18 years), later peak trajectories (eg, age 40 years), and a high-risk trajectory (eg, high frequency PDM at multiple ages). All PDM trajectories were associated with increased odds of developing SUD symptoms in middle adulthood, especially the later peak and high-risk trajectories compared with early peak trajectories (eg, peak at age 40 years: adjusted odds ratio [aOR], 5.17; 95% CI, 3.97-6.73; high-risk: aOR, 12.41; 95% CI, 8.47-18.24). Baseline characteristics associated with a high-risk trajectory were binge drinking (aOR, 1.69; 95% CI, 1.13-2.54), cigarette smoking (aOR, 2.30; 95% CI, 1.60-3.29), and marijuana use (aOR, 3.78; 95% CI, 2.38-6.01). More recent cohorts (eg, 1985-1986) had a higher risk of belonging to later peak PDM trajectories (ages 40 and 45 years) than the 1976-1978 cohort (age 40 years peak: aOR, 2.49; 95% CI, 1.69-3.68).Conclusions and relevanceIn this cohort study, adults with later peak PDM trajectories were at increased risk of SUD symptoms in middle adulthood. These findings suggest the need to screen for PDM and SUD from adolescence through middle adulthood.

Dataset Information

Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.

Publications

Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets