Multi-Center African-American Inflammatory Bowel Disease Study (MAAIS): The Search for New Genes (MAAIS)
Recruitment status was: Recruiting
The investigators are doing the research to discover genes that cause Inflammatory Bowel Disease (IBD) specifically in the African American population. Who May Join This Study? Blacks / African Americans with or without Crohn's disease or ulcerative colitis.
If you agree to join the study, the investigators ask that you give us information about your health. The investigators will also ask you to give us a blood sample so that they may discover the genes that cause IBD. The blood sample may be collected at Johns Hopkins or any local facility convenient to you.
|Inflammatory Bowel Disease|
|Study Design:||Observational Model: Case Control
Time Perspective: Cross-Sectional
|Official Title:||Multi-Center African-American Inflammatory Bowel Disease Study (MAAIS)|
Blood samples from each participant will be sent to the NIDDK repository for DNA purification, sample distribution, establishment of cell lines. Serum samples will be sent to Fisher Bioservices Repository.
All additional samples will be processed and stored at Dr. Brant's Johns Hopkins IBD Genetics Laboratory with isolated lymphocytes and cell cultures made and stored at the Johns Hopkins Cell Center with use restricted to the PI (Dr. Brant).
|Study Start Date:||June 2003|
Patients with IBD and their family members who have or do not have IBD.
Individuals who do not have IBD
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This current protocol was established as part of an NIDDK consortium initiative to further explore genetic factors associated with IBD. Specifically, the investigators are interested in identifying the genetic, environment and socio-economical components that contribute to the development of IBD in the African American population.
Positional identification of IBD genes has only been performed in ancestral European American (EA) populations. Recent reports have found that IBD incidence may be similar in both AA and EA (Kurata et al. 1992). Because of different ancestry, AA IBD risk alleles may be unique. For example, the investigators did not find any of the common NOD2 mutations in an initial genotyping of a small set of the AA CD patients. A search of the scientific literature demonstrates that of the greater than 1000 published studies concerning IBD gene mapping, gene association or simply genetic epidemiology, none contained reference to IBD in "blacks or African Americans." Therefore, the genetics of IBD in African Americans is unknown. The goal of the study is to understand the genetics of IBD in African Americans. The investigators will specifically characterize the IBD1, IBD3, and IBD5 genetic loci in these populations. In addition, the investigators will investigate the possible role of variations in the OCTN cation transporter genes which were recently found to be associated with Crohn's disease in a European population.
IBD is believed to be caused by a combination of environmental and genetic factors. Genotype data will be examined alongside potential environmental factors such as smoking, medications, environmental exposures, and some dietary factors. Since IBD is known to predominantly affect Western, industrialized areas of the world, the investigators will also inquire about participants' socioeconomic background in hopes of identifying any previously unknown factors in the AA population that may increase the risk of IBD in this population. These potential environmental factors will be important in association analyses using covariates as these factors can obscure potential associations or interact with genetic factors and thus contribute to genetic associations. The investigators will also obtain information as to ancestry of parents and grandparents as to best match cases with unrelated controls of similar ancestry (e.g., Caribbean, recent European or recent African ancestry could cause genetic mismatch of a case and control). At the same time, the investigators will also collect similar information (smoking, medications, environmental exposures and dietary factors) from non-African Americans for the purpose of making direct comparisons for these parameters between the different racial groups to assess the contribution of non-genetic factors for susceptibility to the development of IBD.
The protocol calls for recruiting AA patients and ethnically matched controls (friend or spouse) and relatives with or without IBD. These persons will provide us with a blood sample and with information requested on a questionnaire asking the following: clinical course and history of their IBD or their general health, smoking history, socioeconomic variables and specific dietary factors known in some populations to be related to IBD etiology. Access to medical records will be used to confirm diagnoses. The clinical characteristics of IBD obtained from medical records will be summarized in a phenotyping form using a standardized NIDDK IBDGC Phenotyping Operations Manual. Controls will be asked health history to identify potentially unrecognized IBD. Parents and siblings can be used as within-family controls (particularly for family based linkage disequilibrium testing), more distant relatives can be useful for determining haplotypes and, when a family history of IBD is present, for potential linkage analysis testing for chromosomal regions shared in affected relative pairs. Such analyses are very robust to unrecognized population stratification; no such studies have been performed in the AA population. DNA will be purified from blood and used to identify genetic polymorphisms associated with AA IBD, as compared to within-family and unrelated controls. Samples and data will also be shared with the NIDDK IBD GC for use in IBDGC research projects. They will be processed and stored by the Rutgers University/Cell Repository and the NIDDK IBDGC Data Coordinating Center at University of Chicago. In addition, serum samples purified from blood will be processed and stored at Fisher Bioservices for Consortium projects.
Recruitment will also target non-African American patients for comparison purposes. These patients will be administered the same questionnaire. At the time of enrollment, no blood draw is required but permission is requested from the participant to be contacted at a future date should a blood draw be needed. Participants are not obligated to provide a blood sample at a later time and will only do so after signing a new consent giving us explicit permission.
A secondary goal of this study is to determine whether there are racial differences in the IBD health outcomes and health utilization. The investigators will be comparing African Americans subjects to the white comparison group detailed above. In addition to the clinical questionnaire above, a phone interviewer will contact a subset of the IBD patients (adults ages 18 and older) to ask if they are willing to participate in a phone survey and to obtain verbal consent. This health services supplemental questionnaire will inquire about insurance access, physician utilization, health-related quality of life, indices of disease severity, income, occupational history, patient-reported adherence, and patient trust-in-physicians.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01169194
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01169194
|Contact: Patricia Ushry||1(888) firstname.lastname@example.org|
|Contact: Denise Spears, BA||(410) email@example.com|
|United States, District of Columbia|
|Washington Hospital Center||Recruiting|
|Washington, District of Columbia, United States, 20010|
|Contact: Michelle Mendoza, MD, CCRC 202-877-6181 firstname.lastname@example.org|
|Sub-Investigator: Averell Sherker|
|Howard University Hospital||Recruiting|
|Washington, District of Columbia, United States, 20060|
|Contact: Melvin Hall 202-865-4688 email@example.com|
|Principal Investigator: Duane Smoot, MD|
|United States, Florida|
|University of Florida||Recruiting|
|Gainesville, Florida, United States, 32608|
|Contact: Amy Gunnett, RN 352-265-0680 ext 40185 firstname.lastname@example.org|
|Principal Investigator: John Valentine, M. D.|
|United States, Maryland|
|Johns Hopkins University School of Medicine||Recruiting|
|Baltimore, Maryland, United States, 21231|
|Contact: Patricia Ushry 888-279-4194 email@example.com|
|Contact: Denise Spears, BA (410) 502-5846 firstname.lastname@example.org|
|Principal Investigator: Steven R Brant, M.D.|
|United States, Michigan|
|Henry Ford Hospital||Recruiting|
|Detroit, Michigan, United States, 48202|
|Contact: Nicole Samuels, CCRP 248-344-2358 email@example.com|
|Contact: Sara Mukhashen, MSA (313) 916-6049 firstname.lastname@example.org|
|Principal Investigator: Ann Silverman, M.D.|
|United States, North Carolina|
|University of North Carolina||Recruiting|
|Chapel Hill, North Carolina, United States, 27599-7032|
|Contact: Mikki Sandridge 919-843-3873 email@example.com|
|Contact: Dolly Walkup (919) 843-8105 firstname.lastname@example.org|
|Principal Investigator: Kim Isaacs, M.D., Phd|
|Principal Investigator:||Steven R Brant, M.D.||Johns Hopkins University|