ID
45580
Description
Principal Investigator: Sekar Kathiresan, Broad Institute, Cambridge, MA 02142, USA MeSH: Hyperlipoproteinemia Type II,Hypoalphalipoproteinemias https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000587 The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. These and related diseases that are of high impact to public health and individuals from diverse racial and ethnic groups will be studied. These data may help researchers understand the causes of disease, contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention and treatments to specific populations. This could lead to more effective treatments and reduce the likelihood of side effects. GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers - BroadGO and SeattleGO. In this study, we seek to identify the genetic cause of two monogenic lipid disorders-severe hypercholesterolemia and familial hypoalphalipoproteinemia. Monogenic severe hypercholesterolemia is clinically characterized by elevated total and low-density lipoprotein (LDL) cholesterol levels in plasma. Elevated LDL-cholesterol levels lead to excessive deposition of cholesterol in arterial walls, which eventually results in accelerated atherosclerosis and premature cardiovascular disease (CVD). Monogenic hypercholesterolemia has a prevalence of approximately one in 500 individuals, making it one of the most common inherited disorders. To date, mutations in the LDL receptor (LDLR) ligand-binding domains of APOB and PCSK9 have been shown to cause hypercholesterolemia. While mutations in these genes can explain a large percentage of clinically diagnosed patients, the underlying molecular determinant in a substantial fraction of patients remains unknown. Familial hypoalphalipoproteinemia (low HDL-C) is defined by an HDL-C below the age- and sex- specific 10th percentile. ABCA1, LCAT, and APOA1 are known to cause familial hypoalphalipoproteinemia. We hypothesize that: (1) additional novel genes responsible for Mendelian forms of low HDL-C exist; and (2) the causal gene and mutation(s) in each family may be discovered with exome analysis of just a few affected individuals in each pedigree.
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Versions (1)
- 1/24/23 1/24/23 - Simon Heim
Copyright Holder
Sekar Kathiresan, Broad Institute, Cambridge, MA 02142, USA
Uploaded on
January 24, 2023
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License
Creative Commons BY 4.0
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dbGaP phs000587 NHLBI GO-ESP: Family Studies (Mendelian Lipid Disorders)
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants involved in the "NHLBI GO-ESP Family Studies: Mendelian Lipid Disorders project.
- Subject ID, sample ID, and sample use of participants involved in the "NHLBI GO-ESP Family Studies: Mendelian Lipid Disorders" project.
- Subject ID, age, high density lipoprotein cholesterol, sex, and race of participants involved in the "NHLBI GO-ESP Family Studies: Mendelian Lipid Disorders" project.
- Sample ID, body site where sample was collected, analyte type, and tumor status of participants involved in the "NHLBI GO-ESP Family Studies: Mendelian Lipid Disorders" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants involved in the "NHLBI GO-ESP Family Studies: Mendelian Lipid Disorders project.
- Subject ID, sample ID, and sample use of participants involved in the "NHLBI GO-ESP Family Studies: Mendelian Lipid Disorders" project.
- Subject ID, age, high density lipoprotein cholesterol, sex, and race of participants involved in the "NHLBI GO-ESP Family Studies: Mendelian Lipid Disorders" project.
- Sample ID, body site where sample was collected, analyte type, and tumor status of participants involved in the "NHLBI GO-ESP Family Studies: Mendelian Lipid Disorders" project.
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