Data from bipolar I old-order Amish families suggest that the morbid risk of illness is not significantly different in this population when compared with estimates of risk from previous studies. The age-corrected rates of bipolar I, bipolar II, and major depressive disorder among first-degree relatives are 8.7, 3.7, and 11.6, respectively. Risk of illness is not significantly different among male and female relatives and among relatives of male and female probands. Consistent with other reports, the rate of illness is higher among relatives of probands with early-onset disease. In contrast with previous reports, there does not appear to be a cohort effect in this population.
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http://dx.doi.org/10.1001/archpsyc.1992.01820090031005 | DOI Listing |
Hum Mol Genet
January 2025
Department of Human Genetics, McGill University, 3666 McTavish Street, Montreal, QC H3A 1Y2, Canada.
Many genes in the human genome encode proteins that are dosage sensitive, meaning they require protein levels within a narrow range to properly execute function. To investigate if clinically relevant variation in protein levels impacts the same downstream pathways in human disease, we generated cell models of two SETBP1 syndromes: Schinzel-Giedion Syndrome (SGS) and SETBP1 haploinsufficiency disease (SHD), where SGS is caused by too much protein, and SHD is caused by not enough SETBP1. Using patient and sex-matched healthy first-degree relatives from both SGS and SHD SETBP1 cases, we assessed how SETBP1 protein dosage affects downstream pathways in human forebrain progenitor cells.
View Article and Find Full Text PDFJ Hum Genet
January 2025
Tohoku Medical Megabank Organization, Tohoku University, Sendai, Miyagi, Japan.
Large-scale population cohort studies that collect genomic information are tasked with returning an assessment of genetic risk for hereditary cancers to participants. While several studies have applied to return identified genetic risks to participants, comprehensive surveys of participants' understanding, feelings, and behaviors toward cancer risk remain to be conducted. Here, we report our experience and surveys of returning genetic risks to 100 carriers of pathogenic variants for hereditary cancers identified through whole genome sequencing of 50 000 individuals from the Tohoku Medical Megabank project, a population cohort study.
View Article and Find Full Text PDFTransplantation
January 2025
Saint Louis University Transplant Center, SSM Health Saint Louis University Hospital, St. Louis, MO.
Background: Recent studies suggest that approximately 10% of patients with chronic kidney disease (CKD) have disease-causing genetic variants, an observation relevant to evaluation of kidney transplant candidates.
Methods: We retrospectively investigated the diagnostic yield of genetic testing in kidney transplant candidates evaluated at our program (January 1, 2021-December 8, 2022). Inclusion criteria were as follows: first-degree relative(s) with CKD/end-stage kidney disease (ESKD), early-onset CKD, focal segmental glomerulosclerosis, cystic kidney disease, alternative complement pathway-associated diseases, or ESKD of unknown cause.
Although sympathetic magic (SM) beliefs (i.e., irrational understanding of contagion transmission) are observed in obsessive-compulsive disorder (OCD), it is unclear if such beliefs are psychological endophenotypes.
View Article and Find Full Text PDFPediatr Blood Cancer
January 2025
Department of Pediatric Surgery, Urology and Transplantation, Hôpital Universitaire Necker-Enfants Malades, APHP, Université de Paris Cité, Paris, France.
Background: Ovarian mature teratoma represents the most common benign neoplasm among pediatric germ cell tumors. This study reports the prevalence and characteristics of familial forms identified in a single center over 22 years in order to better understand possible familial predispositions to ovarian teratoma.
Methods: The records of all patients who were surgically treated for ovarian teratoma between 2000 and 2022 were retrospectively reviewed.
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