Annual Report on the Rare Diseases and Conditions Research Activities of the National Institutes of Health FY 2000
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National Center on Minority Health and Health Disparities (NCMHD)
Overview of NCMHD Rare Diseases Research Activities Effective January 16, 2001, the Minority Health and Health Disparities Research and Education Act of 2000 (P.L. 106-525) established NCMHD. The Office of Research on Minority Health (ORMH) within the Office of the Director (OD) was administratively abolished, and its programs were transferred to the new Center. NCMHD conducts and supports research, training, information dissemination, and other programs aimed at reducing the disproportionately high incidence and prevalence of disease, burden of illness, and mortality experienced by certain American populations. These populations include racial and ethnic minorities and groups such as the urban and rural poor who experience disparate health status. Ethnic and racial minorities may also experience a higher incidence and prevalence of rare diseases than the general population for a variety of reasons, genetic and otherwise. For example, certain conditions such as sickle cell anemia (SCA) and keloid formation are linked to genes that are predominantly found within one racial group. Alternatively, for rare diseases such as systemic lupus erythematosus (SLE) and breast cancer, which tend to occur across populations, there are still significant disparities in risk of disease development, severity of symptoms, and mortality. Indeed, racial and ethnic minorities and other underserved populations are likely to experience even greater barriers to screening, diagnosis, and treatment of rare diseases than for common conditions due to a variety of cultural, socioeconomic, and environmental factors. This section of this report highlights the rare disease research that is supported by NCMHD in partnership with other NIH Institutes and Centers. All projects are aimed at increasing knowledge of, reducing, and/or eliminating health disparities and include significant racial and minority group participation. Several projects, including the Sudden Infant Death Syndrome (SIDS) Minority Outreach project and the Jackson Heart Study, involve extensive community outreach. The Jackson Heart Study, Collaborative Clinical and Molecular Correlative Studies, and Regional Research Centers for Minority Oral Health emphasize research training for minorities and research capacity-building at minority-serving institutions. Ongoing Rare Diseases Research and Recent Scientific Advances NIA/NCMHD Genetic Epidemiology of Alzheimer's Disease in Hispanics Alzheimer's disease is a degenerative brain disease that impairs mental and emotional functioning in older adults. Genetic influences of Alzheimer's disease are being investigated among patients and their siblings in the Caribbean Hispanic population in New York City and in the Dominican Republic. The goal is to identify chromosomes containing genes that may increase the risk of Alzheimer's disease in members of this ethnic group. Four hundred and fifty sib-pairs will be included in the study; 225 families have been identified, in which there are up to 213 sib-pairs. Genome screening of each individual is in progress. NIAMS/NCMHD Degenerative Spondylolisthesis in Black Women Degenerative spondylolisthesis is characterized by degenerative arthritis of the spine, resulting in forward slippage of all or part of one vertebra on another in the lumbar spinal region. In the ongoing Study of Osteoporotic Factors, 476 elderly African American women have been radiographed and have completed questionnaires on pain symptoms and related disabilities, with assessment now under way to determine the burden that degenerative spondylolisthesis imposes on this population. Mapping of Vitiligo Susceptibility Genes This initiative will examine familial vitiligo to identify the gene or genes associated with this progressive, chronic condition of white skin patches. Vitiligo affects all racial groups but is very psychologically damaging to dark-skinned populations. A probable gene for familial vitiligo has been found. To corroborate this finding, two independent populations in the United States and the United Kingdom are being studied. Specialized Center of Research (SCOR) in Scleroderma Scleroderma is a connective tissue disorder that causes tissue scarring within the skin, internal organs, and small blood vessels. NIAMS will begin a fifth year in its study of scleroderma in minority populations. The Choctaw Native American people in Oklahoma have a high prevalence of this disease. A large number of candidate genes have been ruled out, with evidence now indicating a genetic association with fibrillin-1, osteonectin, and MHC . In addition, data from a multiethnic longitudinal study of patients with disease duration of less than 5 years indicates potentially significant genetic, sociodemographic, and behavioral background factors among the groups studied. Arthritis Among Latinos: A Study Based on National Data Although arthritis means "inflammation of the joints,fl the term is generally used to refer to more than 100 rheumatic diseases that can cause pain, redness, heat, swelling, stiffness, and decreased joint function. These diseases may affect other parts of the body, including connective tissues, muscles, tendons, ligaments, bones, and internal organs. Involving a secondary analysis of data from the National Health Interview Survey, this 1-year study's goal is to uncover the underlying factors related to observed differences between Latinos and non-Latinos in the prevalence rates of arthritis and of associated levels of disability (both being greater in the Latino population). Ultimately, this information will be used to guide policy and intervention programs aimed at reducing physical disability and improving health promotion in the Latino population. Molecular Mechanisms for Keloid Formation This project focuses on investigating the epidemiologic, genetic, and molecular aspects of keloid development, an abnormal wound healing process resulting in tissue scarring (overgrowth of fibroblastic tissue). It is anticipated that the number of subjects participating in the study including probands and family members, will range between 500 and 1,000. The majority of subjects are African Americans, whose incidence of keloids is very much greater than in other populations. To date, no genes have been identified, but results are expected as the research sample grows. Hypoxia Regulation of VEGF/VEGF Receptors in Keloids This is a newly funded collaborative study conducted by the Children's Hospital of Los Angeles, the University of Southern California, and NCI to examine the role of vascular endothelial growth factors in keloid vascular homeostasis. SLE SLE is an autoimmune disease of unknown etiology in which autoantibodies damage one's own tissues and, potentially, multiple organs. It is primarily a disease of women but is more prevalent in African American, Hispanic, and Native American women than in Caucasian women. Seven studies are in progress. Three focus on identification of genes related to clinical manifestation of SLE, with the hypothesis that the disease is polygenic. Four studies are examining related biochemical phenomena in SLE patients. One study of African American, Hispanic, and Caucasian patients is in the process of assessing relative influences of socioeconomic-demographic, behavioral-cultural, and immunogenetic factors in patients with SLE. The projects are:
NHLBI/NCMHD Familial Aggregation and Natural History of Sleep Apnea Sleep apnea is a potentially life-threatening condition characterized by interrupted breathing during sleep (and thus interrupted sleep). Early recognition and treatment of sleep apnea is important because this condition may be associated with irregular heartbeat, high blood pressure, heart attack and stroke. Four hundred African American and Caucasian subjects have participated in a study to determine genetic variation in predisposition toward sleep apnea. It has been demonstrated that African Americans have almost 3.5 times the risk level of Caucasians of developing sleep apnea. Obesity, sinus problems, and asthma, while all predisposing factors, do not account sufficiently for African American children's high risk of the condition. There is evidence of the role of a major recessive gene. In fact, the risk of inheriting sleep apnea was shown to be independent of the risk of obesity. Information gained from this study will be used to improve strategies to reduce related co-morbidities such as hypertension in those populations at genetic risk. Adrenergic Receptors and Hypertension in Blacks In this study, the role of alpha-2 adrenergic receptors is being examined: the genetic factors in these receptors' mediation of platelet aggregation and central baroreceptor activity, as well as their role in transport of chloride possibly being a necessary link between the autonomic nervous system and salt-sensitive hypertension. Four hundred African Americans are being studied. Hypertension often has no symptoms but may lead to stroke, heart attack, kidney malfunction, or blindness if undetected and untreated. Sarcoidosis Genetic Linkage Consortium Sarcoidosis is a disease of unknown origin involving formation of granulomatous lesions, especially in the lungs (for 90% of patients), liver, lymph nodes, and skin. The goal of this project is to identify sarcoidosis susceptibility genes and determine how these genes and environmental risk factors affect the manifestation of this systemic disease, of which African Americans have a higher incidence and experience a more severe form. NCMHD funds are being used to increase the planned efforts of an epidemiologist, data coordinator, data entry person, and computer programmer to a level considered sufficient for successful completion of the study. Cellular Phenotypes of Salt Sensitivity This study examines the role of cellular calcium turnover rate in salt-sensitive hypertension, which has a high prevalence in the African American population. Approximately 32 African Americans from the study population will be examined in depth as inpatients. A preliminary finding is that a male/female difference in blood pressure regulation is related to the menstrual cycle. Characterization of cellular calcium regulation in men and women on varying sodium intake levels is in progress. This information could ultimately be used as a predictor of the body's response to changing sodium diets. Jackson Heart Study (JHS) The JHS is a partnership among Jackson State University, Tougaloo College, the University of Mississippi Medical Center, NHLBI, and NCMHD. The goals of this study are to:
The study will have a sample size of approximately 6,500 men and women aged 35-84 years and will include approximately 400 families. Recruitment began in September 2000. Strategies to increase community and individual awareness have resulted in an increased enrollment rate. Genetic Analysis of Human Hypertensive End-Stage Renal Disease (ESRD) The focus of this initiative is a search, through a variety of research approaches, for genes that predispose the African American population to hypertension-associated ESRD. NCMHD support has been targeted to add a sample of the Mexican American study population through the support of a full-time recruiter. In addition, funds will purchase an additional piece of equipment to increase efficiency and to handle the increased number of samples that generate genetic data. NIDDK/NCMHD African American Study of Kidney Disease and Hypertension This multicenter clinical trial is investigating treatment interventions to slow the progression of kidney disease in African Americans with hypertension. A total of 1,094 patients were randomized to one of three antihypertensive medications. The patients taking antiotension-converting enzyme inhibitor (Ramipril) were less likely to have progressive worsening of kidney function than those on the calcium channel blocker, so the latter regimen was eliminated. NCHMD has provided substantive support to the trial since FY 1992 and is now providing ongoing support for three minority/majority collaborations in the full-scale trial, and also for the Howard University Center. Gestational Diabetes Component of Diabetes Prevention Program A total of 3,234 subjects have been enrolled in a 3-arm study with 2 active treatment groups (medication and lifestyle). Sixty-eight percent are women, and 165 of these have or have had gestational diabetes. More than 45% of the study participants are from minority groups. NCMHD funds have provided significant recruitment and retention resources to randomize women, those with gestational diabetes, and minorities into the program. The high level of compliance by volunteers will enhance research staff's ability to assess prevention and intervention strategies. Birth Weight and Gestational Age as Predictors of Chronic Disease Risk This investigation is examining the effects of a woman's growth before her own birth on her risk for gestational diabetes and for pregnancy-induced hypertension as an adult. Information on approximately 70,000 women has been collected and is being analyzed. These women are of a variety of ethnicities, were born in New York State after 1959, and delivered a singleton infant between 1991 and 1996. Results are expected in FY 2001. Hepatitis C Antiviral Long-term Treatment against Cirrhosis Trial: Enhanced Minority Recruitment Hepatitis C is a blood-borne virus that inflames and damages the liver, causing a contagious chronic liver disease that may result in cirrhosis or liver cancer. With some minority subpopulations at a higher risk for hepatitis C, enhanced recruitment for a cirrhosis treatment study was warranted. Of a total recruitment goal of 1,350 patients, with 20% from racial minorities, 222 have been enrolled, 22% being minority patients. Contacting minority physicians at the study sites for potential enrollees has contributed to the improved minority enrollment. Magnesium and Sickle Cell Disease (SCD) In this 5-year study (1 year supported by ORMH/NCMHD), clinical and cell studies are indicating that magnesium, in preventing the loss of potassium, is a possible therapy for SCD. Potassium loss, causing red cell dehydration, leads to the characteristic sickling of the cells, preventing their uptake of oxygen. Use of magnesium not only reduces cell dehydration, but also reduces the occurrence of painful crises in sickle cell patients. NCI/NCMHD Cellular Responses to Mutagens in Lung Cancer Case and Controls: A Focus on Gender and Race This intramural initiative seeks to determine if mutagen sensitivity, p53 induction, and apoptosis in cultured lymphocytes will be predictive of lung cancer risk and if this predictability varies by gender or race. Lung cancer is the most common cause of cancer-related deaths in African Americans and Caucasians, and it has been proposed that African Americans have a higher risk than Caucasians for developing the disease at a given level of smoking. Two hundred of each population group with confirmed lung cancer are being compared to 2 control groups, 1 hospital-based and 1 population-based, with a total of 400 of each of the 2 ethnicities. Collaborative Clinical and Molecular Correlative Studies in Minority Populations Involving Genitourinary and Gynecologic Malignancies The purpose of this project is to assess the relationships between a series of molecular markers found in tumor tissue samples and defined clinical outcomes in African Americans and Hispanic Americans with genitourinary (e.g., prostate) or gynecologic malignancies. Three institutions are providing both research materials and investigators: Howard University, Louisiana State, and the Medicine Branch. Both minority and majority investigators are involved in this study. Gene-Environment Interactions for Breast Cancer Risk and Survival in Different Racial and Ethnic Groups This intramural project is an exploration of gene-environment interactions for breast cancer risk and survival in Caucasians, African Americans, and Hispanics. The study will allow for direct comparison of risk factors for both initiation and aggressive disease. Study of Breast Cancer, Breast Disease, and Pesticides Among a Population from Triana, Alabama This study is a continued evaluation of pesticide (DDT) exposure, a potential risk factor for breast cancer, in a rural, low-income, and predominantly African American cohort of women. NIDCR/NCMHD Oral Infections, Carotid Atherosclerosis, and Stroke This is a prospective study to determine the contribution and impact of periodontal infections on the risk of atherosclerosis and cardiovascular disease. Participants from three ethnic groups have been drawn from the Northern Manhattan Stroke Study; they are being screened at baseline and will receive telephone follow-up for 3 years. Pathological outcomes to be focused on are thickening of the carotid artery wall and the amount of time before a cerebrovascular event occurs. NICHD/NCMHD Back to Sleep Campaign (Sudden Infant Death Syndrome [SIDS] Minority Outreach) SIDS is the leading cause of death in infants between 1 and 12 months of age, and it appears that lying supine (face-up) rather than prone (face-down) reduces the likelihood of this occurrence. This project is focused on the development and distribution of culturally appropriate educational materials for African American and Hispanic communities, and on partnering with community-based organizations for the conduct of community outreach activities targeting SIDS. A variety of materials are now in use, including a resource kit and bus advertisements. NCMHD funds are also being used to support the National Black Child Development Institute's activities regarding SIDS. NIEHS/NCMHD The Hormonal and Environmental Risk Factors for Systemic Lupus Erythematosus (SLE): The Carolina Lupus Study This is the first population-based epidemiologic study in the United States of SLE, a chronic, disabling disease that disproportionately affects African American women. The study provides the opportunity to examine occupational and environmental risk factors in a previously understudied population. Efforts may help to illuminate etiologic pathways and to develop targeted preventive measures. Sixty percent of subjects are African Americans. NEI/NCMHD Myopia Development in Children Myopia Development in Children is an expansion of the Orinda Longitudinal Study of Myopia initiated in 1989, which focuses on an investigation of ethnicity and the development of myopia. Three new study populations have been added: African American, Asian American, and Hispanic American children. While fewer than 2% of children beginning elementary school in the United States are nearsighted, or myopic, the prevalence of myopia increases to more than 15% among middle school graduates, and to 25% of the adult population. |
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