Background Hirschsprung’s disease, or congenital aganglionosis, is a developmental disorder
of the enteric nervous system and is the most common cause of intestinal obstruction in …

Objective To determine if any association between previously identified alleles that confer
risk for Parkinson disease and variables measuring disease progression. Methods We …

Phenome-wide association studies (PheWAS) have been proposed as a possible aid in drug
development through elucidating mechanisms of action, identifying alternative indications, …

Background Several reports have identified different patterns of Parkinson's disease
progression in individuals carrying missense variants in GBA or LRRK2 genes. The overall …

Background Previous studies reported various symptoms of Parkinson's disease (PD)
associated with sex. Some were conflicting or confirmed in only one study. Objectives We …

Genetic variants in intron 1 of the fat mass– and obesity-associated (FTO) gene have been
consistently associated with body mass index (BMI) in Europeans. However, follow-up …

Genome-wide association studies (GWASs) primarily performed in European-ancestry (EA)
populations have identified numerous loci associated with body mass index (BMI). However, …

Inositol-1,4,5-triphosphate (IP 3 ) kinase B (ITPKB) is a ubiquitously expressed lipid kinase
that inactivates IP 3 , a secondary messenger that stimulates calcium release from the …

In 2008, Pollin et al.(1) identified 1 mechanism of lowering triglyceride-rich lipoproteins
among the Lancaster Amish, loss of apolipoprotein C-III (APOC3) gene function, which was …

Background— Despite recent discoveries of new genetic risk factors, the majority of risk for
coronary artery disease (CAD) remains elusive. As the most proximal sensor of DNA variation…