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Physical activity and epigenetic biomarkers in maternal blood during pregnancy

Epigenomics, Tuesday, October 16, 2018

Investigate associations of leisure time physical activity (LTPA) with DNA methylation and miRNAs during pregnancy. Patients & methods: LTPA, candidate DNA methylation and circulating miRNAs were measured (average 15 weeks gestation) in pregnant women. Our findings suggest that LTPA may influence maternal epigenetic biomarkers, possibly in an offspring sex-specific manner.

Generalizing polygenic risk scores from Europeans to Hispanics/Latinos

Genetic Epidemiology, Monday, October 15, 2018

Polygenic risk scores (PRSs) are weighted sums of risk allele counts of single-nucleotide polymorphisms (SNPs) associated with a disease or trait. PRSs are typically constructed based on published results from Genome-Wide Association Studies (GWASs), and the majority of which has been performed in large populations of European ancestry (EA) individuals. Although many genotype-trait associations have generalized across populations, the optimal choice of SNPs and weights for PRSs may differ between populations due to different linkage disequilibrium (LD) and allele frequency patterns. The researcherscompare various approaches for PRS construction, using GWAS results from both large EA studies and a smaller study in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos (HCHS/SOL, n=12,803 ). The researchers consider multiple approaches for selecting SNPs and for computing SNP weights.

Human Papillomavirus prevalence among American Indian women of the Great Plains

The Journal of Infectious Diseases, Monday, October 15, 2018

High-risk human papillomavirus (HrHPV) causes cervical cancer. In the U.S., approximately 40% of women aged 14-59 years from all racial and ethnic groups are infected with HPV, and prevalence typically declines with age. However, American Indian women are insufficiently sampled to permit a population-specific estimate of HrHPV prevalence.

Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels

Nature Communications, Friday, October 12, 2018

Elevated serum urate levels can cause gout, an excruciating disease with suboptimal treatment. Previous GWAS identified common variants with modest effects on serum urate. Here we report large-scale whole-exome sequencing association studies of serum urate and kidney function among ≤19,517 European ancestry and African-American individuals.

Socioeconomic status differences in food consumption following a laboratory-induced stressor

Health Psychology Open, Friday, October 12, 2018

We examined food consumption in response to a laboratory-induced stressor (two challenging neuropsychological tasks) among non-Hispanic White women categorized as lower or higher in socioeconomic status based on education. The two socioeconomic status groups did not differ with respect to current hunger or baseline dietary habits.

Collagen Biomarkers and Incidence of New Onset of Atrial Fibrillation in Subjects With No Overt Cardiovascular Disease at Baseline

Circulation: Arrhythmia and Electrophysiology, Thursday, October 11, 2018

Atrial fibrosis is a hallmark of structural remodeling in atrial fibrillation (AF). Plasma procollagen type III N-terminal propeptide (PIIINP) reflects collagen synthesis and degradation while collagen type I carboxy-terminal telopeptide (ICTP) reflects collagen degradation. The researchers aimed to study baseline plasma PIIINP and ICTP and their associations with incident AF in participants initially free of overt cardiovascular disease.

Coronary heart disease genetic risk score predicts cardiovascular disease risk in men, not women

Circulation: Genomic and Precision Medicine, Thursday, October 11, 2018

Genetic risk scores (GRSs) quantify an individual’s risk for a specified condition using estimates derived from genome-wide association studies. Early studies evaluating the use of cardiovascular disease GRSs comprising known coronary heart disease (CHD) risk variants demonstrate that high GRSs are associated with increased risk for cardiovascular events. However, none of the published CHD GRS studies directly compare the performance of the risk score between men and women.

Collagen biomarkers and incidence of new onset of atrial fibrillation in subjects with no overt cardiovascular disease at baseline

Circulation: Arrhythmia and Electrophysiology, Thursday, October 11, 2018

Atrial fibrosis is a hallmark of structural remodeling in atrial fibrillation (AF). Plasma procollagen type III N-terminal propeptide (PIIINP) reflects collagen synthesis and degradation while collagen type I carboxy-terminal telopeptide (ICTP) reflects collagen degradation. The researchers aimed to study baseline plasma PIIINP and ICTP and their associations with incident AF in participants initially free of overt cardiovascular disease.

De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias

American Journal of Human Genetics, Wednesday, October 10, 2018

Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the α1-subunit of the voltage-gated CaV2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission.

Optimizing and evaluating biomarker combinations as trial-level general surrogates

Statistics in Medicine, Wednesday, October 10, 2018

We extend the method proposed in a recent work by the Authors for trial-level general surrogate evaluation to allow combinations of biomarkers and provide a procedure for finding the "best" combination of biomarkers based on the absolute prediction error summary of surrogate quality. We use a nonparametric Bayesian model that allows us to select an optimal subset of biomarkers without having to consider a large number of explicit model specifications for that subset.