Dataset Information

Next Generation Mendelian Genetics: Familial Combined Hyperlipidemia

ABSTRACT:

The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases.

The research study procedures included the collection of a fasting blood sample, 2 medical history/life style questionnaires and a measurement of subjects' waist circumference that were completed many years ago. Blood samples were analyzed for metabolic markers including cholesterol, HDL, triglycerides and APOE. Genetic tests targeted known and novel genes and polymorphisms associated with carotid artery disease.

PROVIDER: phs000538 | dbGaP |

SECONDARY ACCESSION(S): PRJNA174063PRJNA174062

REPOSITORIES: dbGaP

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Dataset's files

Source:

			Action	DRS
	GapExchange_phs000538.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs000538.Mendelian_Familial_Hyperlipidemia.v1.p1.MULTI.pdf	Pdf
	manifest_phs000538.Mendelian_Familial_Hyperlipidemia.v1.p1.c2.HD.pdf	Pdf
	datadict_v2.xsl	Other

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Project description:This study used untargeted proteomics to compare blood proteomic profiles in two groups of adults that differed widely in lifestyle habits. The goal was to identify a core list of proteins that were either upregulated or downregulated based on adherence to recommended lifestyle habits in adults. A total of 52 subjects in the lifestyle group (LIFE) (28 males, 24 females) and 52 in the control group (CON) (27 males, 25 females) participated in this cross-sectional study. Age, education level, marital status, and height did not differ significantly between LIFE and CON groups. The LIFE and CON groups differed markedly in body composition and fat mass-related anthropometric measurements including waist circumference, body mass index (BMI), sagittal abdominal diameter (SAD), and body composition (body fat percentage and fat mass index or FMI) (p<0.001). LIFE and CON groups were also widely disparate in physical activity patterns and maximal aerobic fitness, dietary intake patterns, disease risk factor prevalence, blood measures of inflammation, triglycerides, HDL-cholesterol, glucose, and insulin, weight-adjusted leg/back and handgrip strength, and mood states. The proteomics analysis showed strong group differences for 39 of 725 proteins identified in the dried blood spot samples. Of these, 18 were downregulated in the LIFE group and collectively indicated a lower innate immune activation signature. A total of 21 proteins were upregulated in the LIFE group and supported greater lipoprotein metabolism and HDL remodeling. Lifestyle-related habits and biomarkers were probed and the variance (>50%) in downregulated and upregulated proteins was best explained by group contrasts in indicators of body composition and visceral fat including FMI and SAD. This cross-sectional study established that a relatively small number of upregulated and downregulated proteins are associated with good lifestyle habits. A targeted “lifestyle” proteomic panel based on these data could be used in future studies to determine the efficacy of various prevention and treatment strategies.

Dataset Information

Next Generation Mendelian Genetics: Familial Combined Hyperlipidemia

Dataset's files

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