BACKGROUND There is increasing evidence that substance use disorders are familial and that genetic factors explain a substantial degree of their familial aggregation. To perform a controlled family study of probands with several different predominant drugs of abuse, including opioids, cocaine, cannabis, and/or alcohol. METHODS The subjects for the present study included 231 probands with depe...

Frontotemporal lobar degeneration (FTLD), the most frequent neurodegenerative disorder with a presenile onset, presents with a spectrum of clinical manifestations, ranging from behavioral and executive impairment to language disorders and motor dysfunction. Familial aggregation is frequently reported, and about 10% of cases have an autosomal dominant transmission. Microtubule associated protein...

Chapter 5 Whole exome sequencing of germline DNA from familial non-BRCA1/2 breast cancer cases with a homogeneous tumour profile 110 Abstract Introduction A large proportion of familial breast cancer susceptibility is still unexplained. Inherited germline mutations in the high-risk BRCA1, BRCA2, and PALB2 genes account for approximately 10 to 20 percent of familial breast cancer risk. The failu...

Strong familial aggregation of coronary artery disease has long been recognized. Some of the increment of familial risk is attributable to established risk factors, such as plasma lipid levels, hypertension, smoking, and diabetes. Statistical regression studies, however, suggest that only 30% to 50% of the observed increment of coronary disease risk associated with a positive family history can...

Approximately 5% to 10% of cases of cutaneous melanoma occur in families that have a hereditary predisposition for this disease. In 20% to 40% of such melanoma families, germline mutations in the CDKN2A gene have been identified. Apart from a high risk of melanoma, a proportion of kindreds that have familial melanoma also have an increased risk of pancreatic carcinoma. Guidelines for management...

BACKGROUND Recent genome-wide association studies suggest some overlap of genetic determinants of ischemic stroke (IS) and myocardial infarction (MI). This study aimed to assess shared familial risk between IS and MI in a large, population-wide cohort study. METHODS Study participants free of IS and MI and their affected siblings were extracted from the Swedish Hospital Discharge and Cause of...

CONTEXT AND OBJECTIVE There have been few studies on the risk factors for subgroups of stuttering. The aim of this study was to characterize the risk factors for developmental familial stuttering among boys who stutter and who do not stutter, such as disfluency types, associated quality and communication factors, emotional and physical stress, familial attitudes and personal reactions. DESIGN...