46 research outputs found

    Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

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    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    Anginal symptoms, coronary artery disease, and adverse outcomes in Black and White women: the NHLBI-sponsored Women's Ischemia Syndrome Evaluation (WISE) study.

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    BackgroundBlack women are less likely to be evaluated and treated for anginal symptoms, despite a higher premature cardiac mortality rate compared to white women. Our objective was to compare angina symptoms in black versus white women regarding (1) angina symptoms characterization; (2) relationship with obstructive coronary artery disease (CAD); and (3) relationship with subsequent mortality.MethodsA cohort of 466 women (69 black and 397 white) undergoing coronary angiography for suspected ischemia and without prior history of CAD completed symptom checklists. Four symptom clusters (CHEST, UPPER, STOMACH, and TYPICAL TRIGGERS) were derived by factor analysis. All angiograms were analyzed by core lab. Mortality data over 10 years were obtained from National Death Index.Results(1) Black women had lower mean CHEST cluster scores (0.60±0.30 vs. 0.73±30, p=0.002), but higher STOMACH scores (0.41±0.25 vs. 0.30±0.25, p=0.011) than white women. (2) Prevalence and severity of CAD did not differ in black and white women and was not predicted by symptom cluster scores. (3) All-cause mortality rates were 24.9% in blacks versus 14.5% in whites, p=0.007; and cardiovascular mortality 22.5% vs.8.8%, p=0.001. Symptom clusters were not predictive of adverse events in white women. However, black women with a low TYPICAL score had significantly higher mortality compared to those with a high TYPICAL score (43% vs. 10%, p=0.006).ConclusionsAmong women undergoing coronary angiography, black women report fewer chest-related and more stomach-related symptoms, regardless of presence or severity of CAD, and these racial symptom presentation differences are linked with the more adverse prognosis observed in the black women. Atypical symptom presentation may be a barrier to appropriate and timely diagnosis and treatment and contribute to poorer outcomes for black women

    Anginal Symptoms, Coronary Artery Disease, and Adverse Outcomes in Black and White Women: The NHLBI-Sponsored Women's Ischemia Syndrome Evaluation (WISE) Study

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    BACKGROUND: Black women are less likely to be evaluated and treated for anginal symptoms, despite a higher premature cardiac mortality rate compared to white women. Our objective was to compare angina symptoms in black versus white women regarding (1) angina symptoms characterization; (2) relationship with obstructive coronary artery disease (CAD); and (3) relationship with subsequent mortality. METHODS: A cohort of 466 women (69 black and 397 white) undergoing coronary angiography for suspected ischemia and without prior history of CAD completed symptom checklists. Four symptom clusters (CHEST, UPPER, STOMACH, and TYPICAL TRIGGERS) were derived by factor analysis. All angiograms were analyzed by core lab. Mortality data over 10 years were obtained from National Death Index. RESULTS: (1) Black women had lower mean CHEST cluster scores (0.60±0.30 vs. 0.73±30, p=0.002), but higher STOMACH scores (0.41±0.25 vs. 0.30±0.25, p=0.011) than white women. (2) Prevalence and severity of CAD did not differ in black and white women and was not predicted by symptom cluster scores. (3) All-cause mortality rates were 24.9% in blacks versus 14.5% in whites, p=0.007; and cardiovascular mortality 22.5% vs.8.8%, p=0.001. Symptom clusters were not predictive of adverse events in white women. However, black women with a low TYPICAL score had significantly higher mortality compared to those with a high TYPICAL score (43% vs. 10%, p=0.006). CONCLUSIONS: Among women undergoing coronary angiography, black women report fewer chest-related and more stomach-related symptoms, regardless of presence or severity of CAD, and these racial symptom presentation differences are linked with the more adverse prognosis observed in the black women. Atypical symptom presentation may be a barrier to appropriate and timely diagnosis and treatment and contribute to poorer outcomes for black women
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