BACKGROUND Cardiac valvular diseases contribute to >42,000 deaths yearly in the United States, but the role of genetics in these deaths is unknown. This study evaluated the familiality of death resulting from aortic, mitral, and all valvular diseases using a population-based genealogy linked to death records. METHODS AND RESULTS The Utah Population Database contains >2 million individual reco...

Anti-Saccharomyces cerevisiae antibodies (ASCA) have been described as specific markers in Crohn's disease and their healthy first-degree relatives. 171 patients with Crohn's disease, their 105 first-degree relatives, 145 patients with ulcerative colitis and 101 first-degree relatives of patients with ulcerative colitis, 50 patients with infectious enterocolitis and 100 healthy controls were te...

OBJECTIVE To examine reactivity to anti-citrullinated protein/peptide antibodies (ACPAs) and determine associations between ACPAs and other rheumatoid arthritis (RA)-related autoantibodies and clinically assessed swollen or tender joints in unaffected first-degree relatives of RA patients. METHODS Serum samples were obtained from first-degree relatives without RA according to the 1987 America...

Familial adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance. Most adult-onset primary torsion dystonia patients are sporadic cases. Disordered sensory processing is found in adult-onset primary torsion dystonia patients; if also present in their unaffected relatives this abnormality may indicate non-manifesting gene carriage. Temporal discrim...

HFE-related hereditary haemochromatosis is the most common autosomal recessive disorder in the Caucasian population. In 1996 the responsible gene (called HFE) was identified. Two mutations (C282Y and H63D) are considered most important and occur frequently in the Caucasian population. We describe a family of an affected proband in which first- and second-degree relatives were tested phenotypica...

INTRODUCTION Elevated prevalence of comorbid cardio-vascular and metabolic dysfunction (CMD) is consistently reported in patients with severe psychotic disorders such as schizophrenia (SZ), schizoaffective (SZA) and bipolar disorder (BP-P). Since both psychosis and CMD are substantively heritable in nature, we attempted to investigate the occurrence of CMD disorders in first-degree relatives of...

INTRODUCTION Colonoscopy screening reduces colorectal cancer (CRC) incidence and mortality. CRC screening is recommended at age 50 for average-risk people. Screening of first-degree relatives of CRC patients is recommended to begin at age 40 or 10 years before the age at diagnosis of the youngest relative diagnosed with CRC. CRC incidence has increased recently among younger Americans while it ...

OBJECTIVE To determine the extent of celiac autoimmunity in type 1 diabetic patients and the overlap between islet and celiac autoimmunity in their nondiabetic relatives. RESEARCH DESIGN AND METHODS IgA antibodies to tissue transglutaminase were determined in serum taken from 433 type 1 diabetic patients and 1,442 nondiabetic first-degree relatives. Samples with transglutaminase antibodies ab...

Objectives & Aim of the Study: Evidence for the higher prevalence of NSS in schizophrenics and their 1 degree relatives is substantial whereas evidence for the specificity of the subtypes of the NSS is relatively sparse. This study was performed to find out if there is a subset of NSS discriminating 1 degree relatives of schizophrenic when compared with 1 degree relatives of bipolar disorder pa...

OBJECTIVE To determine whether there is an increased prevalence of systemic autoimmune diseases in both patients with white spot syndromes (WSS) and their family members. METHODS Patients with WSS at participating institutions were asked to complete a questionnaire reporting their own medical histories as well as any autoimmune diseases among their first- and second-degree relatives. RESULT...