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Association between Titin loss-of-function variants and early-onset atrial fibrillation

JAMA, Tuesday, December 11, 2018

Atrial fibrillation (AF) is the most common arrhythmia affecting 1% of the population. Young individuals with AF have a strong genetic association with the disease, but the mechanisms remain incompletely understood. The researchers set out to perform large-scale whole-genome sequencing to identify genetic variants related to AF.

Association between titin loss-of-function variants and early-onset atrial fibrillation

JAMA, Tuesday, December 11, 2018

Atrial fibrillation (AF) is the most common arrhythmia affecting 1% of the population. Young individuals with AF have a strong genetic association with the disease, but the mechanisms remain incompletely understood. The researchers performed large-scale whole-genome sequencing to identify genetic variants related to AF.

Higher prevalence of viral control in HIV-1-infected women in serodiscordant relationships

PLoS One, Wednesday, December 5, 2018

HIV-1-discordant couples that remain discordant despite repeated exposure may differ from the general population in their distribution of transmission risk factors, including low plasma viral load (PVL) in the infected partner even in the absence of antiretroviral therapy (ART). We followed two cohorts of HIV-1-infected Kenyan women: females in discordant couples (FDC) and female sex workers (FSW). We compared the distribution of undetectable (<150 copies/mL) and low PVL (<1,000 copies/mL) between the cohorts using bootstrap methods and exact Poisson regression.

Polygenic risk scores for prediction of breast cancer and breast cancer subtypes

American Journal of Human Genetics, Wednesday, December 5, 2018

Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. The researchers' aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. 

Integrating HIV testing into syphilis partner services in Mississippi to improve HIV case finding

Sexually Transmitted Diseases, Monday, December 3, 2018

Mississippi (MS) has the 10th highest rate of new HIV infections in the United States. The Mississippi State Department of Health (MSDH) integrated partner HIV testing into syphilis partner services (PS) in 2014, but the effectiveness of this as an HIV case-finding strategy has not been evaluated.

GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes

Nature Communications, Monday, December 3, 2018

Carotid artery intima media thickness (cIMT) and carotid plaque are measures of subclinical atherosclerosis associated with ischemic stroke and coronary heart disease (CHD). Here, we undertake meta-analyses of genome-wide association studies (GWAS) in 71,128 individuals for cIMT, and 48,434 individuals for carotid plaque traits. We identify eight novel susceptibility loci for cIMT, one independent association at the previously-identified PINX1 locus, and one novel locus for carotid plaque.

Discovery of common and rare genetic risk variants for colorectal cancer

Nature Genetics, Monday, December 3, 2018

To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome-wide association study data, and tested for association in 34,869 cases and 29,051 controls.

Standardized biogeographic grouping system for annotating populations in pharmacogenetic research

Clinical Pharmacology and Therapeutics, Saturday, December 1, 2018

The varying frequencies of pharmacogenetic alleles between populations have important implications for the impact of these alleles in different populations. Current population grouping methods to communicate these patterns are insufficient as they are inconsistent and fail to reflect the global distribution of genetic variability. To facilitate and standardize the reporting of variability in pharmacogenetic allele frequencies, we present seven geographically-defined groups: American, Central/South Asian, East Asian, European, Near Eastern, Oceanian, and Sub-Saharan African, and two admixed groups: African American/Afro-Caribbean and Latino.

Case definitions of hemolytic uremic syndrome following Escherichia coli O157:H7 infection vary in validity

International journal of medical microbiology, Saturday, December 1, 2018

Multiple case definitions for post-diarrheal hemolytic uremic syndrome (D+ HUS) associated with Shiga toxin-producing Escherichia coli (STEC) are used across public health, research, and clinical practice.

Yield and consistency in arrhythmia detection with patch electrocardiographic monitoring: The Multi-Ethnic Study of Atherosclerosis

Journal of Electrocardiology, Saturday, December 1, 2018

Patch electrocardiographic (ECG) monitors permit extended noninvasive ambulatory monitoring. To guide use of these devices, information is needed about their performance. We sought to determine in a large general population sample the acceptability of patch ECG monitors, the yield of arrhythmia detection, and the consistency of findings in participants monitored twice.