Functional Disease

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Michael H. Criqui - One of the best experts on this subject based on the ideXlab platform.

  • Relationships Between Symptoms and Venous Disease: The San Diego Population Study
    JAMA Internal Medicine, 2005
    Co-Authors: Robert D. Langer, Arnost Fronek, Julie O. Denenberg, Elena Ho, Matthew A. Allison, Michael H. Criqui
    Abstract:

    Background The associations between symptoms and venous Disease of the lower extremities are poorly characterized. Methods We conducted a cross-sectional study to evaluate relationships between symptoms associated with venous Disease and prevalent Disease in 2408 men and women aged 29 to 91 years who were employees, retirees, or spouses at a large state university. Index participants were randomly selected within strata by age, sex, and ethnicity. A structured interview assessed the prevalence of aching, itching, heaviness, tired legs, cramping, swelling, and nighttime restless legs. A comprehensive standardized examination determined the prevalence of visible Disease (normal, telangiectasias, varicose veins, and trophic changes) and Functional Disease (normal, superficial, and deep Disease). We related symptoms to Disease with attention to modification by sex, ethnicity, and age. Results Aching, itching, heaviness, tired legs, cramping, and swelling were related to both superficial and deep Functional Disease. The same symptoms were related to varicose veins and trophic changes. Swelling and heaviness were related to telangiectatic Disease. Except for restless legs and trophic changes, the prevalence of symptoms across each category was greater in women than men. Aching was the most common symptom but was relatively nonspecific. Swelling was the most specific marker for prevalent visible and Functional Disease. Heaviness and itching also helped to distinguish prevalent Disease. Conclusions Venous symptoms were more prevalent in study participants with both visible and Functional Disease and in women. Swelling was the most specific predictor; heaviness, itching, and aching also helped to distinguish cases.

  • Chronic Venous Disease in an Ethnically Diverse Population The San Diego Population Study
    American journal of epidemiology, 2003
    Co-Authors: Michael H. Criqui, Maritess Jamosmos, Arnost Fronek, Julie O. Denenberg, Robert Langer, John J. Bergan, Beatrice A. Golomb
    Abstract:

    In a 1994-1998 cross-sectional study of a multiethnic sample of 2,211 men and women in San Diego, California, the authors estimated prevalence of the major manifestations of chronic venous Disease: spider veins, varicose veins, trophic changes, and edema by visual inspection; superficial and deep Functional Disease (reflux or obstruction) by duplex ultrasonography; and venous thrombotic events based on history. Venous Disease increased with age, and, compared with Hispanics, African Americans, and Asians, non-Hispanic Whites had more Disease. Spider veins, varicose veins, superficial Functional Disease, and superficial thrombotic events were more common in women than men (odds ratio (OR) = 5.4, OR = 2.2, OR = 1.9, and OR = 1.9, respectively; p < 0.05), but trophic changes and deep Functional Disease were less common in women (OR = 0.7 for both; p < 0.05). Visible (varicose veins or trophic changes) and Functional (superficial or deep) Disease were closely linked; 92.0% of legs were concordant and 8.0% discordant. For legs evidencing both trophic changes and deep Functional Disease, the age-adjusted prevalences of edema, superficial events, and deep events were 48.2%, 11.3%, and 24.6%, respectively, compared with 1.7%, 0.6%, and 1.3% for legs visibly and Functionally normal. However, visible Disease did not invariably predict Functional Disease, or vice versa, and venous thrombotic events occurred in the absence of either.

Farhad Hormozdiari - One of the best experts on this subject based on the ideXlab platform.

  • Functional Disease architectures reveal unique biological role of transposable elements
    Nature Communications, 2019
    Co-Authors: Farhad Hormozdiari, Bryce Van De Geijn, Joseph Nasser, Omer Weissbrod, Steven Gazal, Luke J Oconnor
    Abstract:

    Transposable elements (TE) comprise roughly half of the human genome. Though initially derided as junk DNA, they have been widely hypothesized to contribute to the evolution of gene regulation. However, the contribution of TE to the genetic architecture of Diseases remains unknown. Here, we analyze data from 41 independent Diseases and complex traits to draw three conclusions. First, TE are uniquely informative for Disease heritability. Despite overall depletion for heritability (54% of SNPs, 39 ± 2% of heritability), TE explain substantially more heritability than expected based on their depletion for known Functional annotations. This implies that TE acquire function in ways that differ from known Functional annotations. Second, older TE contribute more to Disease heritability, consistent with acquiring biological function. Third, Short Interspersed Nuclear Elements (SINE) are far more enriched for blood traits than for other traits. Our results can help elucidate the biological roles that TE play in the genetic architecture of Diseases. Transposable elements (TE) make up a large component of the human genome and have been shown to contribute to human Diseases. Here, Hormozdiari et al. estimate the contribution of TEs to the heritability of 41 complex traits and Diseases and find enrichment of SINEs in blood traits.

  • Functional Disease architectures reveal unique biological role of transposable elements
    bioRxiv, 2018
    Co-Authors: Farhad Hormozdiari, Bryce Van De Geijn, Joseph Nasser, Omer Weissbrod, Steven Gazal, Luke J Oconnor
    Abstract:

    Transposable elements (TE) comprise roughly half of the human genome. Though initially derided as ''junk DNA'', they have been widely hypothesized to contribute to the evolution of gene regulation. However, the contribution of TE to the genetic architecture of Diseases and complex traits remains unknown. Here, we analyze data from 41 independent Diseases and complex traits (average N=320K) to draw three main conclusions. First, TE are uniquely informative for Disease heritability. Despite overall depletion for heritability (54% of SNPs, 39{+/-}2% of heritability; enrichment of 0.72{+/-}0.03; 0.38-1.23 enrichment across four main TE classes), TE explain substantially more heritability than expected based on their depletion for known Functional annotations (expected enrichment of 0.35{+/-}0.03; 2.11x ratio of true vs. expected enrichment). This implies that TE acquire function in ways that differ from known Functional annotations. Second, older TE contribute more to Disease heritability, consistent with acquiring biological function; SNPs inside the oldest 20% of TE explain 2.45x more heritability than SNPs inside the youngest 20% of TE. Third, Short Interspersed Nuclear Elements (SINE; one of the four main TE classes) are far more enriched for blood traits (2.05{+/-}0.30) than for other traits (0.96{+/-}0.09); this difference is far greater than expected based on the weaker depletion of SINEs for regulatory annotations in blood compared to other tissues. Our results elucidate the biological roles that TE play in the genetic architecture of Diseases and complex traits.

Arnost Fronek - One of the best experts on this subject based on the ideXlab platform.

  • Relationships Between Symptoms and Venous Disease: The San Diego Population Study
    JAMA Internal Medicine, 2005
    Co-Authors: Robert D. Langer, Arnost Fronek, Julie O. Denenberg, Elena Ho, Matthew A. Allison, Michael H. Criqui
    Abstract:

    Background The associations between symptoms and venous Disease of the lower extremities are poorly characterized. Methods We conducted a cross-sectional study to evaluate relationships between symptoms associated with venous Disease and prevalent Disease in 2408 men and women aged 29 to 91 years who were employees, retirees, or spouses at a large state university. Index participants were randomly selected within strata by age, sex, and ethnicity. A structured interview assessed the prevalence of aching, itching, heaviness, tired legs, cramping, swelling, and nighttime restless legs. A comprehensive standardized examination determined the prevalence of visible Disease (normal, telangiectasias, varicose veins, and trophic changes) and Functional Disease (normal, superficial, and deep Disease). We related symptoms to Disease with attention to modification by sex, ethnicity, and age. Results Aching, itching, heaviness, tired legs, cramping, and swelling were related to both superficial and deep Functional Disease. The same symptoms were related to varicose veins and trophic changes. Swelling and heaviness were related to telangiectatic Disease. Except for restless legs and trophic changes, the prevalence of symptoms across each category was greater in women than men. Aching was the most common symptom but was relatively nonspecific. Swelling was the most specific marker for prevalent visible and Functional Disease. Heaviness and itching also helped to distinguish prevalent Disease. Conclusions Venous symptoms were more prevalent in study participants with both visible and Functional Disease and in women. Swelling was the most specific predictor; heaviness, itching, and aching also helped to distinguish cases.

  • Chronic Venous Disease in an Ethnically Diverse Population The San Diego Population Study
    American journal of epidemiology, 2003
    Co-Authors: Michael H. Criqui, Maritess Jamosmos, Arnost Fronek, Julie O. Denenberg, Robert Langer, John J. Bergan, Beatrice A. Golomb
    Abstract:

    In a 1994-1998 cross-sectional study of a multiethnic sample of 2,211 men and women in San Diego, California, the authors estimated prevalence of the major manifestations of chronic venous Disease: spider veins, varicose veins, trophic changes, and edema by visual inspection; superficial and deep Functional Disease (reflux or obstruction) by duplex ultrasonography; and venous thrombotic events based on history. Venous Disease increased with age, and, compared with Hispanics, African Americans, and Asians, non-Hispanic Whites had more Disease. Spider veins, varicose veins, superficial Functional Disease, and superficial thrombotic events were more common in women than men (odds ratio (OR) = 5.4, OR = 2.2, OR = 1.9, and OR = 1.9, respectively; p < 0.05), but trophic changes and deep Functional Disease were less common in women (OR = 0.7 for both; p < 0.05). Visible (varicose veins or trophic changes) and Functional (superficial or deep) Disease were closely linked; 92.0% of legs were concordant and 8.0% discordant. For legs evidencing both trophic changes and deep Functional Disease, the age-adjusted prevalences of edema, superficial events, and deep events were 48.2%, 11.3%, and 24.6%, respectively, compared with 1.7%, 0.6%, and 1.3% for legs visibly and Functionally normal. However, visible Disease did not invariably predict Functional Disease, or vice versa, and venous thrombotic events occurred in the absence of either.

Julie O. Denenberg - One of the best experts on this subject based on the ideXlab platform.

  • Relationships Between Symptoms and Venous Disease: The San Diego Population Study
    JAMA Internal Medicine, 2005
    Co-Authors: Robert D. Langer, Arnost Fronek, Julie O. Denenberg, Elena Ho, Matthew A. Allison, Michael H. Criqui
    Abstract:

    Background The associations between symptoms and venous Disease of the lower extremities are poorly characterized. Methods We conducted a cross-sectional study to evaluate relationships between symptoms associated with venous Disease and prevalent Disease in 2408 men and women aged 29 to 91 years who were employees, retirees, or spouses at a large state university. Index participants were randomly selected within strata by age, sex, and ethnicity. A structured interview assessed the prevalence of aching, itching, heaviness, tired legs, cramping, swelling, and nighttime restless legs. A comprehensive standardized examination determined the prevalence of visible Disease (normal, telangiectasias, varicose veins, and trophic changes) and Functional Disease (normal, superficial, and deep Disease). We related symptoms to Disease with attention to modification by sex, ethnicity, and age. Results Aching, itching, heaviness, tired legs, cramping, and swelling were related to both superficial and deep Functional Disease. The same symptoms were related to varicose veins and trophic changes. Swelling and heaviness were related to telangiectatic Disease. Except for restless legs and trophic changes, the prevalence of symptoms across each category was greater in women than men. Aching was the most common symptom but was relatively nonspecific. Swelling was the most specific marker for prevalent visible and Functional Disease. Heaviness and itching also helped to distinguish prevalent Disease. Conclusions Venous symptoms were more prevalent in study participants with both visible and Functional Disease and in women. Swelling was the most specific predictor; heaviness, itching, and aching also helped to distinguish cases.

  • Chronic Venous Disease in an Ethnically Diverse Population The San Diego Population Study
    American journal of epidemiology, 2003
    Co-Authors: Michael H. Criqui, Maritess Jamosmos, Arnost Fronek, Julie O. Denenberg, Robert Langer, John J. Bergan, Beatrice A. Golomb
    Abstract:

    In a 1994-1998 cross-sectional study of a multiethnic sample of 2,211 men and women in San Diego, California, the authors estimated prevalence of the major manifestations of chronic venous Disease: spider veins, varicose veins, trophic changes, and edema by visual inspection; superficial and deep Functional Disease (reflux or obstruction) by duplex ultrasonography; and venous thrombotic events based on history. Venous Disease increased with age, and, compared with Hispanics, African Americans, and Asians, non-Hispanic Whites had more Disease. Spider veins, varicose veins, superficial Functional Disease, and superficial thrombotic events were more common in women than men (odds ratio (OR) = 5.4, OR = 2.2, OR = 1.9, and OR = 1.9, respectively; p < 0.05), but trophic changes and deep Functional Disease were less common in women (OR = 0.7 for both; p < 0.05). Visible (varicose veins or trophic changes) and Functional (superficial or deep) Disease were closely linked; 92.0% of legs were concordant and 8.0% discordant. For legs evidencing both trophic changes and deep Functional Disease, the age-adjusted prevalences of edema, superficial events, and deep events were 48.2%, 11.3%, and 24.6%, respectively, compared with 1.7%, 0.6%, and 1.3% for legs visibly and Functionally normal. However, visible Disease did not invariably predict Functional Disease, or vice versa, and venous thrombotic events occurred in the absence of either.

Beatrice A. Golomb - One of the best experts on this subject based on the ideXlab platform.

  • Chronic Venous Disease in an Ethnically Diverse Population The San Diego Population Study
    American journal of epidemiology, 2003
    Co-Authors: Michael H. Criqui, Maritess Jamosmos, Arnost Fronek, Julie O. Denenberg, Robert Langer, John J. Bergan, Beatrice A. Golomb
    Abstract:

    In a 1994-1998 cross-sectional study of a multiethnic sample of 2,211 men and women in San Diego, California, the authors estimated prevalence of the major manifestations of chronic venous Disease: spider veins, varicose veins, trophic changes, and edema by visual inspection; superficial and deep Functional Disease (reflux or obstruction) by duplex ultrasonography; and venous thrombotic events based on history. Venous Disease increased with age, and, compared with Hispanics, African Americans, and Asians, non-Hispanic Whites had more Disease. Spider veins, varicose veins, superficial Functional Disease, and superficial thrombotic events were more common in women than men (odds ratio (OR) = 5.4, OR = 2.2, OR = 1.9, and OR = 1.9, respectively; p < 0.05), but trophic changes and deep Functional Disease were less common in women (OR = 0.7 for both; p < 0.05). Visible (varicose veins or trophic changes) and Functional (superficial or deep) Disease were closely linked; 92.0% of legs were concordant and 8.0% discordant. For legs evidencing both trophic changes and deep Functional Disease, the age-adjusted prevalences of edema, superficial events, and deep events were 48.2%, 11.3%, and 24.6%, respectively, compared with 1.7%, 0.6%, and 1.3% for legs visibly and Functionally normal. However, visible Disease did not invariably predict Functional Disease, or vice versa, and venous thrombotic events occurred in the absence of either.