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Search Results: 1 - 10 of 465756 matches for " Catherine A. McCarty "
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Development of a fingerprinting panel using medically relevant polymorphisms
Deanna S Cross, Lynn C Ivacic, Catherine A McCarty
BMC Medical Genomics , 2009, DOI: 10.1186/1755-8794-2-17
Abstract: A panel of polymorphisms associated with at least one disease state in multiple populations was constructed using a cut-off of 0.20 or greater confirmed minor allele frequency in a European Caucasian population. The fingerprinting assay was tested using the MALDI-TOF mass spectrometry method of allele determination on a Sequenom platform with a panel of 28 Caucasian HapMap samples; the results were compared with known genotypes to ensure accuracy. The frequencies of the alleles were compared to the expected frequencies from dbSNP and any genotype that did not achieve Hardy Weinberg equilibrium was excluded from the final assay.The final assay consisted of the AMG sex marker and 36 medically relevant polymorphisms with representation on each chromosome, encompassing polymorphisms on both the Illumina 550K bead array and the Affymetrix 6.0 chip (with over a million polymorphisms) platform. The validated assay has a P(ID) of 6.132 × 10-15 and a Psib(ID) of 3.077 × 10-8. This assay allows unique identification of our biorepository of 20,000 individuals as well and ensures that as we continue to recruit individuals they can be uniquely fingerprinted. In addition, diseases such as cancer, heart disease diabetes, obesity, and respiratory disease are well represented in the fingerprinting assay.The polymorphisms in this panel are currently represented on a number of common genotyping platforms making QA/QC flexible enough to accommodate a large number of studies. In addition, this panel can serve as a resource for investigators who are interested in the effects of disease in a population, particularly for common diseases.With the advent of genome wide association studies large bio-banks will become the stepping stones to tomorrow's medicine. The genome wide association study (GWAS) has recently proved its value with replicable findings for diseases such as coronary artery disease, prostate cancer, and diabetes [1], and many more discoveries are expected in the near future.
Awareness of eye diseases in an urban population in southern India
Dandona Rakhi,Dandona Lalit,John Rajesh K.,McCarty Catherine A.
Bulletin of the World Health Organization , 2001,
Abstract: OBJECTIVE: To assess the level of awareness of eye diseases in the urban population of Hyderabad in southern India. METHODS: A total of 2522 subjects of all ages, who were representative of the Hyderabad population, participated in the population-based Andhra Pradesh Eye Disease Study. Of these subjects, 1859 aged >15 years responded to a structured questionnaire on cataract, glaucoma, night blindness and diabetic retinopathy to trained field investigators. Having heard of the eye disease in question was defined as ??awareness?? and having some understanding of the eye disease was defined as ??knowledge??. FINDINGS: Awareness of cataract (69.8%) and night blindness (60.0%) was moderate but that of diabetic retinopathy (27.0%) was low, while that of glaucoma (2.3%) was very poor. Knowledge of all the eye diseases assessed was poor. Subjects aged > 30 years were significantly more aware of all eye diseases assessed except night blindness. Multivariate analysis revealed that women were significantly less aware of night blindness (odds ratio (OR) = 0.78; 95% confidence interval (CI) = 0.63-0.97). Education played a significant role in awareness of these eye diseases. Study subjects of upper socioeconomic status were significantly more aware of night blindness (OR = 2.20; 95% CI = 1.29-3.74) and those belonging to upper and middle socioeconomic strata were significantly more aware of diabetic retinopathy (OR = 2.79; 95% CI = 2.19-3.56). Muslims were significantly more aware of cataract (OR = 2.36; 95% CI = 1.84-3.02) and less aware of night blindness (OR = 0.52; 95% CI = 0.42-0.64). The major source of awareness of the eye diseases was a family member/friend/relative suffering from that eye disease. CONCLUSION: These data suggest that there is a need for health education in this Indian population to increase their level of awareness and knowledge of common eye diseases. Such awareness and knowledge could lead to better understanding and acceptance of the importance of routine eye examinations for the early detection and treatment of eye diseases, thereby reducing visual impairment in this population.
Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project
Deanna S Cross, Lynn C Ivacic, Elisha L Stefanski, Catherine A McCarty
BMC Genetics , 2010, DOI: 10.1186/1471-2156-11-51
Abstract: Here we used a panel of 51 polymorphisms previously associated with at least one disease and determined the allele frequencies within the entire Personalized Medicine Research Project population based cohort. We compared these allele frequencies to those in dbSNP and other data sources stratified by race. Differences in allele frequencies between self reported race, region of origin, and sex were determined.There were 19544 individuals who self reported a single racial category, 19027 or (97.4%) self reported white Caucasian, and 11205 (57.3%) individuals were female. Of the 11,208 (57%) individuals with an identifiable region of origin 8337 or (74.4%) were German.41 polymorphisms were significantly different between self reported race at the 0.05 level. Stratification of our Caucasian population by self reported region of origin revealed 19 polymorphisms that were significantly different (p = 0.05) between individuals of different origins. Further stratification of the population by gender revealed few significant differences in allele frequencies between the genders.This represents one of the largest population based allele frequency studies to date. Stratification by self reported race and region of origin revealed wide differences in allele frequencies not only by race but also by region of origin within a single racial group. We report allele frequencies for our Asian/Hmong and American Indian populations; these two minority groups are not typically selected for population allele frequency detection. Population wide allele frequencies are important for the design and implementation of studies and for determining the relevance of a disease associated polymorphism for a given population.One of the challenges for translating disease associated polymorphisms into use is the lack of knowledge regarding the frequency of the polymorphism in the targeted population. Without this information, population attributable risk remains unknown. In addition, factors that could
Dietary intake in the Personalized Medicine Research Project: a resource for studies of gene-diet interaction
Lacie Strobush, Richard Berg, Deanna Cross, Wendy Foth, Terrie Kitchner, Laura Coleman, Catherine A McCarty
Nutrition Journal , 2011, DOI: 10.1186/1475-2891-10-13
Abstract: The PMRP is a population-based DNA, plasma and serum biobank of more than 20,000 adults aged 18 years and older in central Wisconsin. A questionnaire at enrollment captures demographic information as well as self-reported smoking and alcohol intake. The protocol was amended to include the collection of dietary intake and physical activity via self-reported questionnaires: the National Cancer Institute 124-item Diet History Questionnaire and the Baecke Physical Activity Questionnaire. These questionnaires were mailed out to previously enrolled participants. APOE was genotyped in all subjects.The response rate to the mailed questionnaires was 68.2% for subjects who could still be contacted (alive with known address). Participants ranged in age from 18 to 98 years (mean 54.7) and 61% were female. Dietary intake is variable when comparing gender, age, smoking, and APOE4. Over 50% of females are dietary supplement users; females have higher supplement intake than males, but both have increasing supplement use as age increases. Food energy, total fat, cholesterol, protein, and alcohol intake decreases as both males and females age. Female smokers had higher macronutrient intake, whereas male nonsmokers had higher macronutrient intake. Nonsmokers in both genders use more supplements. In females, nonsmokers and smokers with APOE4 had higher supplement use. In males, nonsmokers with APOE4 had higher supplement use between ages 18-39 only, and lower supplement use at ages above 39. Male smokers with APOE4 had lower supplement use.Dietary intake in PMRP subjects is relatively consistent with data from the National Health and Nutrition Examination Survey (NHANES). Findings suggest a possible correlation between the use of supplements and APOE4. The PMRP dietary data can benefit studies of gene-environment interactions and the development of common diseases.With the completion of the Human Genome Project, the laboratory tools to quantify genetic variation in human populations ex
Awareness of eye diseases in an urban population in southern India
Dandona,Rakhi; Dandona,Lalit; John,Rajesh K.; McCarty,Catherine A.; Rao,Gullapalli N.;
Bulletin of the World Health Organization , 2001, DOI: 10.1590/S0042-96862001000200003
Abstract: objective: to assess the level of awareness of eye diseases in the urban population of hyderabad in southern india. methods: a total of 2522 subjects of all ages, who were representative of the hyderabad population, participated in the population-based andhra pradesh eye disease study. of these subjects, 1859 aged >15 years responded to a structured questionnaire on cataract, glaucoma, night blindness and diabetic retinopathy to trained field investigators. having heard of the eye disease in question was defined as ??awareness?? and having some understanding of the eye disease was defined as ??knowledge??. findings: awareness of cataract (69.8%) and night blindness (60.0%) was moderate but that of diabetic retinopathy (27.0%) was low, while that of glaucoma (2.3%) was very poor. knowledge of all the eye diseases assessed was poor. subjects aged > 30 years were significantly more aware of all eye diseases assessed except night blindness. multivariate analysis revealed that women were significantly less aware of night blindness (odds ratio (or) = 0.78; 95% confidence interval (ci) = 0.63-0.97). education played a significant role in awareness of these eye diseases. study subjects of upper socioeconomic status were significantly more aware of night blindness (or = 2.20; 95% ci = 1.29-3.74) and those belonging to upper and middle socioeconomic strata were significantly more aware of diabetic retinopathy (or = 2.79; 95% ci = 2.19-3.56). muslims were significantly more aware of cataract (or = 2.36; 95% ci = 1.84-3.02) and less aware of night blindness (or = 0.52; 95% ci = 0.42-0.64). the major source of awareness of the eye diseases was a family member/friend/relative suffering from that eye disease. conclusion: these data suggest that there is a need for health education in this indian population to increase their level of awareness and knowledge of common eye diseases. such awareness and knowledge could lead to better understanding and acceptance of the importance of ro
Cataract research using electronic health records
Carol J Waudby, Richard L Berg, James G Linneman, Luke V Rasmussen, Peggy L Peissig, Lin Chen, Catherine A McCarty
BMC Ophthalmology , 2011, DOI: 10.1186/1471-2415-11-32
Abstract: Electronic algorithms were used to select individuals with cataracts in the Personalized Medicine Research Project database. These were analyzed for cataract prevalence, age at cataract, and previously identified risk factors.Cataract diagnoses and surgeries, though not type of cataract, were successfully identified using electronic algorithms. Age specific prevalence of both cataract (22% compared to 17.2%) and cataract surgery (11% compared to 5.1%) were higher when compared to the Eye Diseases Prevalence Research Group. The risk factors of age, gender, diabetes, and steroid use were confirmed.Using electronic health records can be a viable and efficient tool to identify cataracts for research. However, using retrospective data from this source can be confounded by historical limits on data availability, differences in the utilization of healthcare, and changes in exposures over time.When considering diseases that impact public health worldwide, few would outrank cataracts. Cataracts are the leading cause of blindness worldwide [1]. Global Burden of Disease 2004 from the World Health Organization ranks cataracts as fourth in disabling conditions in the world following hearing loss, refractive errors, and depression. It estimates the prevalence of moderate and severe disability due to cataracts to be 53.8 million for all ages worldwide [2].While cataracts may be congenital or result from a specific trauma, most cataracts are related to aging. As the age demographic shifts upward in the population, the incidence of age-related cataract will also increase. In the United States it is estimated that 17.2% of those age 40 and older have cataracts, and this rate is projected to increase by 50% by the year 2020 [3]. The prevalence of cataract surgery among Americans aged 40-years and older is estimated at 5.1%, and that is likely to increase by almost 60% by the year 2020 [3]. There is also the suggestion that with the predicted ozone depletion, the rate of cortical catar
A Common CNR1 (Cannabinoid Receptor 1) Haplotype Attenuates the Decrease in HDL Cholesterol That Typically Accompanies Weight Gain
Qiping Feng,Lan Jiang,Richard L. Berg,Melissa Antonik,Erin MacKinney,Jennifer Gunnell-Santoro,Catherine A. McCarty,Russell A. Wilke
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0015779
Abstract: We have previously shown that genetic variability in CNR1 is associated with low HDL dyslipidemia in a multigenerational obesity study cohort of Northern European descent (209 families, median = 10 individuals per pedigree). In order to assess the impact of CNR1 variability on the development of dyslipidemia in the community, we genotyped this locus in all subjects with class III obesity (body mass index >40 kg/m2) participating in a population-based biobank of similar ancestry. Twenty-two haplotype tagging SNPs, capturing the entire CNR1 gene locus plus 15 kb upstream and 5 kb downstream, were genotyped and tested for association with clinical lipid data. This biobank contains data from 645 morbidly obese study subjects. In these subjects, a common CNR1 haplotype (H3, frequency 21.1%) is associated with fasting TG and HDL cholesterol levels (p = 0.031 for logTG; p = 0.038 for HDL-C; p = 0.00376 for log[TG/HDL-C]). The strength of this relationship increases when the data are adjusted for age, gender, body mass index, diet and physical activity. Mean TG levels were 160±70, 155±70, and 120±60 mg/dL for subjects with 0, 1, and 2 copies of the H3 haplotype. Mean HDL-C levels were 45±10, 47±10, and 48±9 mg/dL, respectively. The H3 CNR1 haplotype appears to exert a protective effect against development of obesity-related dyslipidemia.
Novel measures of cardiovascular health and its association with prevalence and progression of age-related macular degeneration: the CHARM study
Catherine A McCarty, Adam Dowrick, James Cameron, Barry McGrath, Luba D Robman, Peter Dimitrov, Gabriella Tikellis, Caroline Nicolas, John McNeil, Robyn Guymer
BMC Ophthalmology , 2008, DOI: 10.1186/1471-2415-8-25
Abstract: Measures of the cardiovascular system: included intima media thickness (IMT), pulse wave velocity (PWV), systemic arterial compliance (SAC), carotid augmentation index (AI). For the prevalence study, hospital-based AMD cases and population-based age- and gender-matched controls with no signs of AMD in either eye were enrolled. For the progression component, participants with early AMD were recruited from two previous studies; cases were defined as progression in one or both eyes and controls were defined as no progression in either eye.160 cases and 160 controls were included in the prevalence component. The upper two quartiles of SAC, implying good cardiovascular health, were significantly associated with increased risk of AMD (OR = 2.54, 95% CL = 1.29, 4.99). High PWV was associated with increased prevalent AMD. Progression was observed in 82 (32.3%) of the 254 subjects recruited for the progression component. Higher AI (worse cardiovascular function) was protective for AMD progression (OR = 0.30, 95%CL = 0.13, 0.69). Higher aortic PWV was associated with increased risk of AMD progression; the highest risk was seen with the second lowest velocity (OR = 6.22, 95% CL = 2.35, 16.46).The results were unexpected in that better cardiovascular health was associated with increased risk of prevalent AMD and progression. Inconsistent findings between the prevalence and progression components could be due to truly different disease etiologies or to spurious findings, as can occur with inherent biases in case control studies of prevalence. Further investigation of these non-invasive methods of characterizing the cardiovascular system should be undertaken as they may help to further elucidate the role of the cardiovascular system in the etiology of prevalent AMD and progression.Age-related macular degeneration (AMD) is the leading cause of blindness in elderly Caucasians in the US [1], Australia [2] and other industrialized nations. The prevalence of AMD rises dramatically wit
Adaptation of WHOQOL as health-related quality of life instrument to develop a vision-specific instrument.
Dandona Lalit,McCarty Catherine,Rao Gullapalli
Indian Journal of Ophthalmology , 2000,
Abstract: The WHOQOL instrument was adapted as a health-related QOL instrument for a population-based epidemiologic study of eye diseases in southern India, the Andhra Pradesh Eye Disease Study (APEDS). A follow-up question was added to each item in WHOQOL to determine whether the decrease in QOL was due to any health reasons including eye-related reasons. Modifications in WHOQOL and translation in local language were done through the use of the focus groups including health professionals and people not related to health care. The modified instrument has 28 items across 6 domains of the WHOQOL and was translated into the local language, Telugu, using the pragmatic approach. It takes 10-20 minutes to be administered by a trained interviewer. Reliability was within acceptable range. This health-related QOL instrument is being used in the population-based study APEDS to develop a vision-specific QOL instrument which could potentially be used to assess the impact of visual impairment on QOL across different cultures and for use in evaluating eye-care interventions. This health-related QOL instrument could also be used to develop other disease-specific instruments as it allows assessment of the extent to which various aspects of QOL are affected by a variety of health problems.
Return of results in the genomic medicine projects of the eMERGE network
Iftikhar J. Kullo,Ra'ad Haddad,Cynthia A. Prows,Ingrid Holm,Saskia C. Sanderson,Nanibaa' A. Garrison,Richard R. Sharp,Maureen E. Smith,Helena Kuivaniemi,John J. Connolly,Brendan J. Keating,Catherine A. McCarty,Marc S. Williams,Gail P. Jarvik
Frontiers in Genetics , 2014, DOI: 10.3389/fgene.2014.00050
Abstract: The electronic Medical Records and Genomics (eMERGE) (Phase I) network was established in 2007 to further genomic discovery using biorepositories linked to the electronic health record (EHR). In Phase II, which began in 2011, genomic discovery efforts continue and in addition the network is investigating best practices for implementing genomic medicine, in particular, the return of genomic results in the EHR for use by physicians at point-of-care. To develop strategies for addressing the challenges of implementing genomic medicine in the clinical setting, the eMERGE network is conducting studies that return clinically-relevant genomic results to research participants and their health care providers. These genomic medicine pilot studies include returning individual genetic variants associated with disease susceptibility or drug response, as well as genetic risk scores for common “complex” disorders. Additionally, as part of a network-wide pharmacogenomics-related project, targeted resequencing of 84 pharmacogenes is being performed and select genotypes of pharmacogenetic relevance are being placed in the EHR to guide individualized drug therapy. Individual sites within the eMERGE network are exploring mechanisms to address incidental findings generated by resequencing of the 84 pharmacogenes. In this paper, we describe studies being conducted within the eMERGE network to develop best practices for integrating genomic findings into the EHR, and the challenges associated with such work.
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