A5074877527- Genetic Associations and Epidemiology
- Nutrition, Genetics, and Disease
- Bipolar Disorder and Treatment
- Bioinformatics and Genomic Networks
- Gene expression and cancer classification
- Estrogen and related hormone effects
- Tryptophan and brain disorders
- Cancer Genomics and Diagnostics
- Pharmacogenetics and Drug Metabolism
- Fungal Infections and Studies
- Chronic Lymphocytic Leukemia Research
- Neutropenia and Cancer Infections
- Lung Cancer Treatments and Mutations
- Treatment of Major Depression
- Genetic factors in colorectal cancer
- Genetic Mapping and Diversity in Plants and Animals
- Cervical Cancer and HPV Research
- BRCA gene mutations in cancer
- Blood disorders and treatments
- Global Cancer Incidence and Screening
- Cancer, Lipids, and Metabolism
- Genetics and Neurodevelopmental Disorders
- Cancer-related molecular mechanisms research
- Pregnancy and preeclampsia studies
- Acute Lymphoblastic Leukemia research
Mayo Clinic in Florida
2016-2025
Mayo Clinic
2014-2024
Mayo Clinic in Arizona
2014-2024
WinnMed
2010-2024
Pennsylvania State University
2021-2023
University of Minnesota System
2023
Hope University
2023
University of Cincinnati
2023
Department of Medical Sciences
2007-2023
Alliance for Education
2023
We performed a case-control genome-wide association study (GWAS) to identify single nucleotide polymorphisms (SNPs) associated with musculoskeletal adverse events (MS-AEs) in women treated aromatase inhibitors (AIs) for early breast cancer.A nested design was used select patients enrolled onto the MA.27 phase III trial comparing anastrozole exemestane. Cases were matched two controls and defined as grade 3 or 4 MS-AEs (according National Cancer Institute's Common Terminology Criteria Adverse...
Little is known about the spectrum or frequency of comorbidities in patients with chronic lymphocytic leukemia (CLL). We investigated prevalence and prognostic implications newly diagnosed CLL. Local/non-referred CLL evaluated by a hematologist at Mayo Clinic within 1 year diagnosis were eligible for this retrospective review. Of 1195 individuals newly-diagnosed between 1995 2006, 373 (31%) local/non-referred. At diagnosis, 89% these had one more comorbidities, 46% least major comorbidity....
Abstract Two cytidine analogues, gemcitabine (dFdC) and 1-β-d-arabinofuranosylcytosine (AraC), show significant therapeutic effect in a variety of cancers. However, response to these drugs varies widely. Evidence from tumor biopsy samples shows that expression levels for genes involved the transport, metabolism, bioactivation pathway contribute this variation response. In present study, we set out test hypothesis gene both within outside “pathway” might influence sensitivity AraC....
Major depressive disorder (MDD) is a common psychiatric disease. Selective serotonin reuptake inhibitors (SSRIs) are an important class of drugs used in the treatment MDD. However, many patients do not respond adequately to SSRI therapy. We pharmacometabolomics-informed pharmacogenomic research strategy identify citalopram/escitalopram outcome biomarkers. Metabolomic assay plasma samples from 20 escitalopram remitters and nonremitters showed that glycine was negatively associated with (P =...
Radiation therapy is used to treat half of all cancer patients. Response radiation varies widely among Therefore, we performed a genome-wide association study (GWAS) identify biomarkers help predict response using 277 ethnically defined human lymphoblastoid cell lines (LCLs). Basal gene expression levels and 1.3 million single nucleotide polymorphism (SNP) markers from both Affymetrix Illumina platforms were assayed for LCLs. MTS...
Abstract Response to treatment with selective serotonin reuptake inhibitors (SSRIs) varies considerably between patients. The International SSRI Pharmacogenomics Consortium (ISPC) was formed the primary goal of identifying genetic variation that may contribute response major depressive disorder. A genome-wide association study 4-week outcomes, measured using 17-item Hamilton Rating Scale for Depression (HRSD-17), performed data from 865 subjects seven sites. outcomes were percent change in...
Millions of patients suffer from major depressive disorder (MDD), but many do not respond to selective serotonin reuptake inhibitor (SSRI) therapy. We used a pharmacometabolomics-informed pharmacogenomics research strategy identify genes associated with metabolites that were related SSRI response. Specifically, 306 MDD treated citalopram or escitalopram and blood was drawn at baseline, 4 8 weeks for drug levels, genome-wide single nucleotide polymorphism (SNP) genotyping metabolomic...
Abstract Incidence rates for endometrial cancer (EC) are rising, particularly in postmenopausal and obese women. Previously, we showed that the uterine vaginal microbiome distinguishes patients with EC from those without. Here, sought to examine impact of patient factors (such as menopause status, body mass index, pH) absence how these might contribute signature EC. We find each factor independently alters identified status main driver a polymicrobial network associated (ECbiome)....
The U.K. Diamond-Blackfan Anaemia (DBA) Registry was established with the aim of providing a representative database for studies on aetiology, pathophysiology and treatment DBA. We have analysed retrospective data from 80 cases (33 male, 47 female) born in 20-year period (1975-94), representing an annual incidence 5 per million live births. Ten children seven families had apparently familial disorder. 13% were anaemic at birth, 72.5% presented by age 3 months. 67% macrocytosis presentation....
Abstract Aromatase (CYP19) is a critical enzyme in estrogen biosynthesis and aromatase inhibitors (AI) are employed widely for endocrine therapy postmenopausal women with breast cancer. We hypothesized that single nucleotide polymorphisms (SNPs) the CYP19 gene may alter effectiveness of AI neoadjuvant setting. Genomic DNA was obtained sequencing from 52 pre-AI post-AI treatment this Additionally, genomic 82 samples cancer 19 normal tissue subjected to resequencing. No differences sequence...
Inherited variability in the prognosis of lung cancer patients treated with platinum-based chemotherapy has been widely investigated. However, overall contribution genetic variation to platinum response is not well established. To identify novel candidate single nucleotide polymorphisms (SNP)/genes, we carried out a genome-wide association study (GWAS) for cisplatin cytotoxicity by using lymphoblastoid cell lines (LCL), followed an selected SNPs from GWAS survival (OS) patients.A was...
The study aimed to define thresholds of clinically significant change in 17-item Hamilton Depression Rating Scale (HDRS-17) scores using the Clinical Global Impression-Improvement (CGI-I) as a gold standard.We conducted secondary analysis individual patient data from Pharmacogenomic Research Network Antidepressant Medication Study, an 8-week, single-arm clinical trial citalopram or escitalopram treatment adults with major depression. We used equipercentile linking identify levels absolute...
Major depressive disorder (MDD) is a heterogeneous disease. Efforts to identify biomarkers for sub-classifying MDD and antidepressant therapy by genome-wide association studies (GWAS) alone have generally yielded disappointing results. We applied metabolomics-informed genomic research strategy study the contribution of genetic variation pathophysiology assaying 31 metabolites, including compounds from tryptophan, tyrosine, purine pathways, in plasma samples 290 patients. Associations...
SULT1A1, which catalyzes the sulfate conjugation of a wide variety natural and synthetic compounds, is genetically polymorphic. Biochemical pharmacogenetic studies have demonstrated that individual variation in level enzyme activity inherited. Common single-nucleotide polymorphisms (SNPs) located open reading frame 5′-flanking region (5′-FR) may account for portion this variation. In study, we demonstrate presence SULT1A1 gene deletions duplications, representing an additional source...