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- Cancer (3)
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AHRQ Research Studies
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Research Studies is a compilation of published research articles funded by AHRQ or authored by AHRQ researchers.
Results
1 to 11 of 11 Research Studies DisplayedLi D, Haritunians T, Landers C
Late-onset Crohn's Disease is a subgroup distinct in genetic and behavioral risk factors with UC-like characteristics.
Age of onset is linked to variations in clinical phenotypes and natural history in Crohn's disease (CD). In this study, the investigators aimed to define etiologically more homogenous subgroups in CD based on ages of onset. The investigators concluded that late-onset CD was subgroup distinct in genetic and behavioral risk factors with UC-like characteristics.
AHRQ-funded; HS021747.
Citation: Li D, Haritunians T, Landers C .
Late-onset Crohn's Disease is a subgroup distinct in genetic and behavioral risk factors with UC-like characteristics.
Inflamm Bowel Dis 2018 Oct 12;24(11):2413-22. doi: 10.1093/ibd/izy148..
Keywords: Digestive Disease and Health, Risk, Genetics
Haymart MR
Is BRAF V600E mutation the explanation for age-associated mortality risk in patients with papillary thyroid cancer?
In this editorial, the author discusses an article appearing within the same issue. She states that the general hypothesis that age-related differences in mortality could be linked to underlying pathogenesis and specifically to oncogenic alterations is probable. She recommends confirmatory studies and concludes that this area of investigation offers potential opportunities to tailor prognostication further through a better understanding of pathogenesis.
AHRQ-funded; HS024512.
Citation: Haymart MR .
Is BRAF V600E mutation the explanation for age-associated mortality risk in patients with papillary thyroid cancer?
J Clin Oncol 2018 Feb 10;36(5):433-34. doi: 10.1200/jco.2017.76.2583..
Keywords: Cancer, Genetics, Mortality, Risk
Hui KY, Fernandez-Hernandez H, Hu J
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.
Researchers studied the risk for Crohn’s disease (CD) and Parkinson’s disease (PD) in a population of Ashkenazi Jews who have the LRRK2 gene. This gene provides a risk for both conditions, However, some alleles (like N2081D variant) conferred more risk for CD or protection from CD (N551K variant). These shared alleles may provide insight into disease mechanisms and treatments.
AHRQ-funded; HS021747.
Citation: Hui KY, Fernandez-Hernandez H, Hu J .
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.
Sci Transl Med 2018 Jan 10;10(423). doi: 10.1126/scitranslmed.aai7795..
Keywords: Genetics, Neurological Disorders, Risk
Biermacka JM, Chung SJ, Amasu SM
Genome-wide gene-environment interaction analysis of pesticide exposure and risk of Parkinson's disease.
The researchers performed the first genome-wide gene-environment interaction analysis of pesticide exposure and risk of Parkinson's disease (PD). They concluded that although no significant interactions were identified, several of the genes with suggestive evidence of gene-environment interaction effects have biological plausibility for PD risk.
AHRQ-funded; HS024057.
Citation: Biermacka JM, Chung SJ, Amasu SM .
Genome-wide gene-environment interaction analysis of pesticide exposure and risk of Parkinson's disease.
Parkinsonism Relat Disord 2016 Nov;32:25-30. doi: 10.1016/j.parkreldis.2016.08.002.
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Keywords: Genetics, Risk, Neurological Disorders
Chuang LS, Villaverde N, Hui KY
A frameshift in CSF2RB predominant among Ashkenazi Jews increases risk for Crohn's disease and reduces monocyte signaling via GM-CSF.
The authors sought to identify rare, Crohn's disease-associated frameshift variants of high functional and statistical effects. They associated Crohn's disease with a frameshift mutation in CSF2RB. Intestinal monocytes from carriers of this mutation had reduced responses to granulocyte-macrophage colony-stimulating factor.
AHRQ-funded; HS021747.
Citation: Chuang LS, Villaverde N, Hui KY .
A frameshift in CSF2RB predominant among Ashkenazi Jews increases risk for Crohn's disease and reduces monocyte signaling via GM-CSF.
Gastroenterology 2016 Oct;151(4):710-23.e2. doi: 10.1053/j.gastro.2016.06.045.
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Keywords: Digestive Disease and Health, Genetics, Risk, Racial and Ethnic Minorities
Li D, Achkar JP, Haritunians T
A pleiotropic missense variant in SLC39A8 is associated with crohn's disease and human gut microbiome composition.
This study aimed to identify novel associations between inflammatory bowel disease (IBD) and functional genetic variants. The results suggest that an SLC39A8-dependent shift in the gut microbiome could explain its pleiotropic effects on multiple complex diseases including Crohn's disease.
AHRQ-funded; HS021747.
Citation: Li D, Achkar JP, Haritunians T .
A pleiotropic missense variant in SLC39A8 is associated with crohn's disease and human gut microbiome composition.
Gastroenterology 2016 Oct;151(4):724-32. doi: 10.1053/j.gastro.2016.06.051.
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Keywords: Digestive Disease and Health, Genetics, Risk
Guerrerio AL, Frischmeyer-Guerrerio PA, Huang C
Increased prevalence of inflammatory bowel disease in patients with mutations in genes encoding the receptor subunits for TGFbeta.
The researchers evaluated the potential genetic risk factors that could predict which patients with Loeys-Dietz syndrome (LDS) would develop inflammatory bowel disease (IBD). They reported a 10-fold increase in the prevalence of IBD in patients with LDS compared with the general population.
AHRQ-funded; HS021747.
Citation: Guerrerio AL, Frischmeyer-Guerrerio PA, Huang C .
Increased prevalence of inflammatory bowel disease in patients with mutations in genes encoding the receptor subunits for TGFbeta.
Inflamm Bowel Dis 2016 Sep;22(9):2058-62. doi: 10.1097/mib.0000000000000872.
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Keywords: Digestive Disease and Health, Genetics, Risk
Reynolds RJ, Vazquez AI, Srinivasasainagendra V
Serum urate gene associations with incident gout, measured in the Framingham Heart Study, are modified by renal disease and not by body mass index.
The researchers hypothesized that serum urate-associated SNPs, individually or collectively, interact with BMI and renal disease to contribute to risk of incident gout. They measured the incidence of gout and associated comorbidities using the original and offspring cohorts of the Framingham Heart Study. They demonstrated that minor alleles of rs1106766 (intergenic, INHBC) were negatively associated with the risk of incident gout in subjects without renal disease, but not for individuals with renal disease.
AHRQ-funded; HS021110.
Citation: Reynolds RJ, Vazquez AI, Srinivasasainagendra V .
Serum urate gene associations with incident gout, measured in the Framingham Heart Study, are modified by renal disease and not by body mass index.
Rheumatol Int 2016 Feb;36(2):263-70. doi: 10.1007/s00296-015-3364-4.
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Keywords: Centers for Education and Research on Therapeutics (CERTs), Evidence-Based Practice, Genetics, Risk, Obesity
Kimberly RP, Rich SS, Cho JH
Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans.
The researchers performed a genetic mapping study using the Immunochip to determine whether inflammatory bowel disease (IBD) susceptibility loci in Caucasians also affect risk in African Americans (AAs) and identify new associated loci. In their analysis of 3,308 AA IBD cases and controls, they found that many variants associated with IBD in Caucasians also showed association evidence with these diseases in AAs.
AHRQ-funded; HS021747.
Citation: Kimberly RP, Rich SS, Cho JH .
Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans.
Gastroenterology 2015 Nov;149(6):1575-86. doi: 10.1053/j.gastro.2015.07.065..
Keywords: Racial and Ethnic Minorities, Genetics, Risk, Health Information Technology (HIT)
Lee K, Rossi C
AHRQ Author: Lee K
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women.
L.M. is a 37-year-old nonsmoking woman who is not taking any medications and has no significant past medical problems. As breast cancer runs in her family, she is interested in genetic testing for breast cancer. This case study poses three multiple choice questions together with the U.S. Preventive Services Task Force recommendations and related background information.
AHRQ-authored.
Citation: Lee K, Rossi C .
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women.
Am Fam Physician 2015 Jan 15;91(2):119-20.
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Keywords: Cancer, Cancer: Breast Cancer, Case Study, Family Health and History, Genetics, Prevention, Risk, Screening, U.S. Preventive Services Task Force (USPSTF), Women
Nelson HD, Pappas M, Zakher B
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation.
This systematic review was done in support of the U.S. Preventive Services Task Force (USPSTF) updated recommendation on the benefit and harms of risk assessment, genetic testing, and genetic counseling for BRCA-related cancer in women. A systematic review was done on literature from 2004 to July 30, 2013 from MEDLINE, PsycINFO, the Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, Health Technology Assessment, Scopus, and reference lists. Data on the participants, study design, analysis, follow-up, and results was extracted and a second investigator confirmed key data. The studies were rated on study quality and applicability. The analysis found women with high-risk for breast cancer had decreased risk of breast cancer by 85% to 100% by having a mastectomy, and risk of mortality by 81% to 100% compared to women without surgery. There was also a lower risk of breast and ovarian cancer after having salpingo-oopherectomy surgery.
AHRQ-funded; 290200710057
Citation: Nelson HD, Pappas M, Zakher B .
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation.
Ann Intern Med 2014 Feb 18;160(4):255-66. doi: 10.7326/m13-1684..
Keywords: U.S. Preventive Services Task Force (USPSTF), Cancer: Breast Cancer, Cancer: Ovarian Cancer, Cancer, Genetics, Screening, Prevention, Guidelines, Evidence-Based Practice, Women, Risk, Family Health and History