Arielle Sloan

GRASP v2.0: an update on the Genome-Wide Repository of Associations between SNPs and phenotypes

Here, we present an update on the Genome-Wide Repository of Associations between SNPs and Phenotypes (GRASP) database version 2.0 (http://apps.nhlbi.nih.gov/Grasp/Overview.aspx). GRASP is a centralized repository of publically available genome-wide association study (GWAS) results. GRASP v2.0 contains ∼8.87 million SNP associations reported in 2082 studies, an increase of ∼2.59 million SNP associations (41.4% increase) and 693 studies (48.9% increase) from our previous version. Our goal in developing and maintaining GRASP is to provide a user-friendly means for diverse sets of researchers to query reported SNP associations (P ≤ 0.05) with human traits, including methylation and expression quantitative trait loci (QTL) studies. Therefore, in addition to making the full database available for download, we developed a user-friendly web interface that allows for direct querying of GRASP. We provide details on the use of this web interface and what information may be gleaned from using this interactive option. Additionally, we describe potential uses of GRASP and how the scientific community may benefit from the convenient availability of all SNP association results from GWAS (P ≤ 0.05). We plan to continue updating GRASP with newly published GWAS and increased annotation depth.

Quality of life indicators according to voice disorders and voice‐related conditions

To evaluate the association between a history of voice disorders and voice‐related conditions and the short form–36 eight‐scale measure of functional health and well‐being as well as psychometrically based physical and mental health summary measures within a senior population.

Unstaged cancer in the United States: a population-based study

BackgroundThe current study examines unstaged disease for 18 cancer sites in the United States according to the influence of age, sex, race, marital status, incidence, and lethality.MethodsAnalyses are based on 1,040,381 male and 1,011,355 female incident cancer cases diagnosed during 2000 through 2007. Data were collected by population-based cancer registries in the National Cancer Institutes Surveillance, Epidemiology, and End Results Program.ResultsThe level of unstaged disease was greater in more lethal cancers (e.g., liver, esophagus, and pancreas) compared with less deadly cancers (i.e., colon, urinary bladder, and female breast). Unstaged disease increased with age and is greater among non-married patients. Blacks compared with whites experienced significantly higher levels of unstaged cancers of the stomach, rectum, colon, skin (melanoma), urinary bladder, thyroid, breast, corpus, cervix, and ovaries, but lower levels of unstaged liver, lung and bronchial cancers. Males compared with females experienced significantly lower levels of unstaged cancers of the liver, pancreas, esophagus, and stomach, but significantly higher levels of unstaged lung and bronchial cancer and thyroid cancer. The percent of unstaged cancer significantly decreased over the study period for 15 of the 18 cancer sites.ConclusionTumor staging directly affects treatment options and survival, so it is recommended that further research focus on why a decrease in unstaged disease did not occur for all of the cancer sites considered from 2000 to 2007, and why there are differential levels of staging between whites and blacks, males and females for several of the cancer sites.

Risk-adjusted incidence rates for prostate cancer in the United States

Risk‐adjusted incidence rates (RAIRs) are population‐based cancer incidence rates that reflect those who have never had the cancer but are at risk of developing it. This study compares RAIRS with conventionally reported incidence rates for prostate cancer.

Cardiovascular correlates of platelet count and volume in the Framingham Heart Study.

PURPOSE Platelet count and volume are inexpensive, routinely assayed biomarkers associated with cardiovascular health, but specific relationships among platelet indices, cardiovascular risk factors, and disease warrant further investigation. The purpose of this study was to understand associations among platelet count, volume, and 20 cardiovascular health-related variables in the Framingham Heart Study (FHS). METHODS Cross-sectional analyses were performed on platelet count and volume associations with cardiovascular health indicators in three FHS cohorts (original n = 964, offspring n = 2699, and third generation n = 2419) using multivariate linear regression analysis. Time-to-event analysis was used for cardiovascular disease-related event incidences using Kaplan-Meier plots and Cox proportional hazards regression adjusted for age and sex. RESULTS Results were concordant with the hypothesis that higher platelet counts are associated with less favorable cardiovascular risk profiles, although mean platelet volume associations were weaker. In our analysis, increased platelet count across FHS cohorts was consistently associated with smoking, triglycerides, low-density lipoprotein, and total cholesterol levels. Some associations with platelet count appeared sex dependent. CONCLUSIONS Significant associations of common blood platelet measurements are observed with sex and cardiovascular risk factors, namely smoking and lipids. Research is warranted to confirm these relationships in other cohorts, evaluate differences by ethnicity, and examine longitudinal effects on disease risk.

Prenatal Maternal Stress and Physical Abuse among Homeless Women and Infant Health Outcomes in the United States

Background. This study examines whether the relationship between maternal stress or abuse situations and infant birth weight differs between homeless and non-homeless women. Methods. Analyses are based on data from the Pregnancy Risk Assessment Monitoring System (PRAMS), 2002–2007. Results. Homeless women were significantly more likely to experience stressful life events, abusive situations, and poor maternal health than non-homeless women during pregnancy. Birth weight among infants of homeless women was, on average, 17.4 grams lighter than for infants of non-homeless women, after adjusting for maternal age, race, ethnicity, region, education, and marital status. The impact of maternal health, stress, and abuse variables on pregnancy and infant birth weight significantly interacted with homeless status. For example, vaginal bleeding, nausea, kidney/bladder infection, and failure to receive early prenatal care had significantly larger negative impacts on birth weight among homeless women than non-homeless women. Infant birth weight was consistently lower among homeless women, more so when maternal stress and abuse were involved, across all classifications of their prepregnancy weight. Conclusion. Stress and abusive situations among pregnant women have a negative influence on pregnancy-related conditions and infant birth weight. However, this negative influence is even more pronounced among homeless women.

Risk-adjusted female breast cancer incidence rates in the United States

A method has been previously proposed for estimating risk-adjusted incidence rates (RAIRs) from cancer data from the Surveillance, Epidemiology, and End Results (SEER) program. Unlike conventionally reported SEER-based cancer incidence rates in the United States, but similar to the approach taken by the International Association of Cancer Registries and the International Agency for Research on Cancer, the method uses only the first primary cancer of the given site. In addition, it also adjusts for population-based cancer prevalence in order to obtain a better population-based measure of cancer risk. For most cancers multiple cancer primaries are rare and the prevalence of the disease is low. However, female breast cancer has a comparatively high risk of subsequent breast cancers and is the most prevalent cancer in women. Hence, in white women RAIRs are 3.0% lower in ages 30-39, 4.2% lower in ages 40-49, 4.0% lower in ages 50-59, 4.1% lower in ages 60-69, 3.8% lower in ages 70-79, and 4.3% lower in ages 80 years and older compared with conventional rates. Corresponding lower percentages for black women are 3.9%, 6.9%, 5.1%, 7.8%, 6.0%, and 2.2%, respectively. Age-group specific trends in breast cancer incidence rates differed between RAIRs and conventional incidence rates, increasingly so with older age. The number of cancer cases in the United States is estimated from conventional incidence rates and population estimates. In 2007, the estimated number of malignant breast cancer cases was 181,665 for white women and 20,203 for black women. The estimated number of breast cancer cases decreased by 4.8% for whites and 6.5% for blacks when based on RAIRs. RAIRs are a better measure of breast cancer risk and trends in RAIRs are better for monitoring the effect of risk factors.

Effectiveness of a health promotion program among employees in a western United States school district.

Objectives: To evaluate the effectiveness of a worksite wellness program in decreasing health risk. Methods: Analyses were based on 2411 employees from a school district in the western United States that participated in the WellSteps wellness program for 12 months. Results: The numbers of high-risk employees at baseline were 683 for body mass index, 360 for systolic blood pressure, 242 for diastolic blood pressure, 72 for blood glucose, and 216 for total cholesterol. Among participants, 46.0% lowered body mass index, 34.7% lowered systolic blood pressure, 56.3% lowered diastolic blood pressure, 65.6% lowered blood glucose, and 38.6% lowered total cholesterol. The percentages moving out of the high-risk categories after 1 year were 11.6%, 39.4%, 70.7%, 38.9%, and 40.7%, respectively. Conclusions: The worksite wellness program effectively lowered risk measures among those identified in high-risk categories at baseline.

Understanding Population-Based Site-Specific Cancer Incidence Rates in the USA

As compared with conventionally reported national population-based incidence rates, incidence rates better represent the “burden” of disease if they remove prevalent cases from the denominator. In order to reflect the “risk” in a disease-free population, rates should both exclude prevalent cases from the denominator and second or later diagnosed cases at the same site from the numerator. Five common cancers were evaluated through a correction method using 2005–2007 Surveillance, Epidemiology, and End Results Program data to determine the extent of difference between conventional and corrected incidence rates. These corrections lowered the incidence rates 4.0–5.8% for female breast cancer, 4.6–7.6% for melanoma, 3.0–4.0% for colorectal cancer, and 2.1–2.5% for lung and bronchus cancer. Corrected incidence rates for prostate cancer were 9.9–13.7% higher. In cancers with either high prevalence and/or high occurrence of multiple primaries at the same site, corrected population-based incidence rates are warranted.

Drug Poisoning Deaths according to Ethnicity in Utah

This study characterizes drug-related deaths according to ethnicity in Utah during 2005–2010, based on data from the Utah Violent Death Reporting System (UTVDRS). Hispanics made up 12.1% (12.5% male and 11.7% female) of deaths. The most frequently identified drugs among decedents were opiates, then illicit drugs, benzodiazepines, over-the-counter medication, and antidepressants. Death rates for each drug were significantly greater in non-Hispanics than Hispanics. Most decedents used a combination of drugs. For each combination, rates were significantly greater for non-Hispanics than Hispanics, with an exception for opiates and illicit drugs combined, where there was no significant difference. Approximately 79% of non-Hispanics and 65% of Hispanics had one or more of the selected problems (e.g., mental, physical, or crisis related). Rates for each combination of problems were significantly greater in non-Hispanics, with the exception of crisis. Hispanics were less affected by the rise in prescription drug abuse. Hispanic decedents had a greater proportion of illegal drugs, consistent with it being more difficult to obtain prescription drugs. Hispanic decedents were less likely to have physical and mental health problems, which may be related to a smaller chance of diagnosis of such problems through the healthcare system.