Familial hypercholesterolemia (FH) is an inherited common autosomal Mendelian disorder of lipoprotein metabolism with a population prevalence of 1 in 500. FH is characterized by severely elevated levels of low-density lipoprotein cholesterol (LDL-C), which result in surplus deposition of cholesterol in tissues. This condition leads to premature at hero sclerosis and early-onset of coronary hear...

BACKGROUND We have previously shown increased anticipatory and consummatory neural responses to rewarding and aversive food stimuli in women recovered from anorexia nervosa (AN). AIMS To determine whether these differences are trait markers for AN, we examined the neural response in those with a familial history but no personal history of AN. METHOD Thirty-six volunteers were recruited: 15 ...

Familial hypercholesterolemia (FH) is a genetic disorder with an increased risk of early-onset coronary artery disease. Although some clinically diagnosed FH cases are caused by mutations in LDLR, APOB, or PCSK9, mutation detection rates and profiles can vary across ethnic groups. In this study, we aimed to provide insight into the spectrum of FH-causing mutations in Koreans. Among 136 patients...

Family history (FH) is predictive of the development of major psychiatric disorders (PSY). Familial psychiatric disorders are largely a consequence of genetic factors and typically exhibit more severe impairments. Decreased prefrontal activity during verbal fluency testing (VFT) may constitute an intermediate phenotype for PSY. We investigated whether familial PSY were associated with a greater...

Familial hyperaldosteronism type II (FH-II) is caused by adrenocortical hyperplasia or aldosteronoma or both and is frequently transmitted in an autosomal dominant fashion. Unlike FH type I (FH-I), which results from fusion of the CYP11B1 and CYP11B2 genes, hyperaldosteronism in FH-II is not glucocorticoid remediable. A large family with FH-II was used for a genome wide search and its members w...

OBJECTIVE To validate and apply a method for independent assessment of insulin secretion and insulin sensitivity (S(I)) during the same test; that is, an intravenous glucose tolerance test followed by a euglycemic-hyperinsulinemic clamp, also called the Botnia clamp. This test was then applied to nondiabetic subjects with (FH+) and without (FH-) a first-degree family history of diabetes. RESE...

BACKGROUND Several studies have shown the role of genetic factors in allergies, and ascertained that atopic diseases are transmitted by parents, especially by mothers. MATERIALS AND METHODS In order to explore the genetic risk of a child with a family history (FH) of allergy, we have enrolled into this prospective study 300 children, 173 males and 127 females, aged 3.5 to 7.5 years (median ag...

OBJECTIVE Family history (FH) provides insights into the effects of shared genomic susceptibilities, environments and behaviors, making it a potentially valuable risk assessment tool for chronic diseases. We assessed whether coronary heart disease (CHD) risk assessment is improved when FH information is added to other clinical information recommended in guidelines. METHODS We applied logistic...

OBJECTIVE To investigate the risk of uterine fibroids and other reproductive risk factors in women with hereditary leiomyomatosis and renal cell cancer (HLRCC). DESIGN Case-control study. SETTING National Institutes of Health, Rockville, Maryland. Patients A family-based case-control study was conducted between July 1, 2004, and June 30, 2006, including 105 women from families with HLRCC as...

OBJECTIVE To evaluate the significance of GAD antibodies (GADAs) and family history for type 1 diabetes (FH(T1)) or type 2 diabetes (FH(T2)) in nondiabetic subjects. RESEARCH DESIGN AND METHODS GADAs were analyzed in 4,976 nondiabetic relatives of type 2 diabetic patients or control subjects from Finland. Altogether, 289 (5.9%) were GADA(+)-a total of 253 GADA(+) and 2,511 GADA(-) subjects pa...