Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0948265 (metabolic syndrome)
 24,271 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The single nucleotide polymorphisms (SNPs) in the gene of breast cancer suppressor protein (BRCA1)-associated protein (BRAP) are significantly associated with coronary artery disease, but the molecular mechanisms are not understood. We examined the associations of the SNPs (rs11066001 and rs3782886) in BRAP with metabolic syndrome (MetS), which is a strong predictor of cardiovascular disease, and potential associations between these SNPs and factors related to inflammation. There were significant associations of both the SNPs with MetS [rs11066001, odds ratio (OR) 0.70, 95% confidence interval (CI) 0.51-0.96, p = 0.028; rs3782886, OR 0.69, 95% CI 0.50-0.94, p = 0.020] under a dominant model after age and gender adjustment. Both SNPs were significantly associated with waist circumference, plasma glucose, glycated haemoglobin, triglycerides and nonesterified fatty acid. Our data provide evidence that the SNPs (rs11066001 and rs3782886) in BRAP decrease the risk of MetS, and associations of the SNPs with various components of MetS are different. Moreover, there are significant associations of both the SNPs with nonesterified fatty acid that could be involved in the inflammatory activity of electronegative low-density lipoprotein.
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PMID:The single nucleotide polymorphisms in BRAP decrease the risk of metabolic syndrome in a Chinese young adult population. 2296 72

BRAP (BRCA1 associated protein) is one of BRCA1 (Breast cancer suppressor protein) associated cytoplasmic proteins. BRAP gene has been found to be associated with the risk of some cancers, and the associations between BRAP and cardiovascular diseases and metabolic syndrome is gradually attracting much attention. However, the explicit mechanisms involved remain to be fully elucidated. We reviewed the association between BRAP gene and cardiovascular diseases and metabolic syndromes and the biologic mechanisms in the regulation of metabolism, hoping to provide clues on our future researches.
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PMID:[Progress in the effects of BRAP gene on cardiovascular diseases]. 2537 49

In recent years, the number of patients choosing to have direct-to-consumer (DTC) genetic testing without involving their clinicians has increased substantially. For example, the number of subscribers to a commonly used testing site has grown to more than 10 million. These services have been heavily marketed in the United States and often include information about ancestry; genetic traits; and, increasingly, disease risk. In clinical care, genetic testing by a physician is accompanied by both pre- and posttest counseling by a trained genetic counselor. However, there are not enough genetic counselors to meet the needs of all persons contemplating DTC genetic testing. Formal genetic counseling includes preparation of a family pedigree; a discussion about potential benefits, the possibility that some information might be stressful to receive or difficult to understand, and the potential for disclosure of genetic information; and a detailed informed consent process. Some DTC tests for genetic susceptibilities look for only a few known mutations in a particular gene (such as BRCA1); a negative test result does not exclude the possibility of a clinically important mutation. A positive DTC genetic test result that might change clinical management should be followed by a confirmatory test through a genetics laboratory. Here, 2 expert physicians-a general internist and a medical oncologist with genetics experience-discuss an approach to counseling a patient who is considering DTC testing to learn more about his ancestry and his risk for metabolic syndrome.
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PMID:Should You Recommend Direct-to-Consumer Genetic Testing for This Patient? : Grand Rounds Discussion From Beth Israel Deaconess Medical Center. 3301 47