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Search Results: 1 - 10 of 191852 matches for " Gina D. Bisceglio "
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Multiple Insulin Degrading Enzyme Variants Alter In Vitro Reporter Gene Expression
Olivia Belbin, Michael Crump, Gina D. Bisceglio, Minerva M. Carrasquillo, Kevin Morgan, Steven G. Younkin
PLOS ONE , 2011, DOI: 10.1371/journal.pone.0021429
Abstract: The insulin degrading enzyme (IDE) variant, v311 (rs6583817), is associated with increased post-mortem cerebellar IDE mRNA, decreased plasma β-amyloid (Aβ), decreased risk for Alzheimer's disease (AD) and increased reporter gene expression, suggesting that it is a functional variant driving increased IDE expression. To identify other functional IDE variants, we have tested v685, rs11187061 (associated with decreased cerebellar IDE mRNA) and variants on H6, the haplotype tagged by v311 (v10; rs4646958, v315; rs7895832, v687; rs17107734 and v154; rs4646957), for altered in vitro reporter gene expression. The reporter gene expression levels associated with the second most common haplotype (H2) successfully replicated the post-mortem findings in hepatocytoma (0.89 fold-change, p = 0.04) but not neuroblastoma cells. Successful in vitro replication was achieved for H6 in neuroblastoma cells when the sequence was cloned 5′ to the promoter (1.18 fold-change, p = 0.006) and 3′ to the reporter gene (1.29 fold change, p = 0.003), an effect contributed to by four variants (v10, v315, v154 and v311). Since IDE mediates Aβ degradation, variants that regulate IDE expression could represent good therapeutic targets for AD.
Replication of EPHA1 and CD33 associations with late-onset Alzheimer's disease: a multi-centre case-control study
Minerva M Carrasquillo, Olivia Belbin, Talisha A Hunter, Li Ma, Gina D Bisceglio, Fanggeng Zou, Julia E Crook, V Pankratz, Sigrid B Sando, Jan O Aasly, Maria Barcikowska, Zbigniew K Wszolek, Dennis W Dickson, Neill R Graff-Radford, Ronald C Petersen, Peter Passmore, Kevin Morgan, for the Alzheimer's Research UK (ARUK) consortium, Steven G Younkin
Molecular Neurodegeneration , 2011, DOI: 10.1186/1750-1326-6-54
Abstract: We found no significant evidence of series heterogeneity. Associations with LOAD were successfully replicated for EPHA1 (rs11767557; OR = 0.87, p = 5 × 10-4) and CD33 (rs3865444; OR = 0.92, p = 0.049), with odds ratios comparable to those previously reported. Although the two ARID5B variants (rs2588969 and rs494288) showed significant association with LOAD in meta-analysis of our dataset (p = 0.046 and 0.008, respectively), the associations did not survive adjustment for covariates (p = 0.30 and 0.11, respectively). We had insufficient evidence in our data to support the association of the CD2AP variant (rs9349407, p = 0.56).Our data overwhelmingly support the association of EPHA1 and CD33 variants with LOAD risk: addition of our data to the results previously reported (total n > 42,000) increased the strength of evidence for these variants, providing impressive p-values of 2.1 × 10-15 (EPHA1) and 1.8 × 10-13 (CD33).Following the identification of the APOE ε4 allele as a risk factor for late-onset Alzheimer's disease (LOAD) in 1993 [1], consistent replication of subsequently identified candidates was not achieved until 2009, when two genome-wide association studies (GWAS) [2,3] identified associations of variants in or near CLU, PICALM , and CR1 with LOAD, which were consistently replicated in multiple large, independent case-control studies [4-17]. Subsequently, a variant near BIN1 was reported [4] to achieve genome-wide significant association in a later GWAS published in 2010 that also replicated well in follow-up studies [14-19]. These results demonstrate the utility of the hypothesis-free GWAS approach for identifying loci that associate with LOAD and the necessity of pooling samples and data from multiple centers to obtain resources with sufficient statistical power (GWAS typically > 14,000, follow-up typically total > 28,000) to detect the modest ORs (e.g. 0.8/1.2) associated with these variants in GWAS and follow-up studies.Two recently published companion s
Linking Protective GAB2 Variants, Increased Cortical GAB2 Expression and Decreased Alzheimer’s Disease Pathology
Fanggeng Zou, Olivia Belbin, Minerva M. Carrasquillo, Oliver J. Culley, Talisha A. Hunter, Li Ma, Gina D. Bisceglio, Mariet Allen, Dennis W. Dickson, Neill R. Graff-Radford, Ronald C. Petersen, the Genetic and Environmental Risk for Alzheimer’s disease (GERAD1) Consortium , Kevin Morgan, Steven G. Younkin
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0064802
Abstract: GRB-associated binding protein 2 (GAB2) represents a compelling genome-wide association signal for late-onset Alzheimer’s disease (LOAD) with reported odds ratios (ORs) ranging from 0.75–0.85. We tested eight GAB2 variants in four North American Caucasian case-control series (2,316 LOAD, 2,538 controls) for association with LOAD. Meta-analyses revealed ORs ranging from (0.61–1.20) with no significant association (all p>0.32). Four variants were hetergeneous across the populations (all p<0.02) due to a potentially inflated effect size (OR = 0.61–0.66) only observed in the smallest series (702 LOAD, 209 controls). Despite the lack of association in our series, the previously reported protective association for GAB2 remained after meta-analyses of our data with all available previously published series (11,952-22,253 samples; OR = 0.82–0.88; all p<0.04). Using a freely available database of lymphoblastoid cell lines we found that protective GAB2 variants were associated with increased GAB2 expression (p = 9.5×10?7?9.3×10?6). We next measured GAB2 mRNA levels in 249 brains and found that decreased neurofibrillary tangle (r = ?0.34, p = 0.0006) and senile plaque counts (r = ?0.32, p = 0.001) were both good predictors of increased GAB2 mRNA levels albeit that sex (r = ?0.28, p = 0.005) may have been a contributing factor. In summary, we hypothesise that GAB2 variants that are protective against LOAD in some populations may act functionally to increase GAB2 mRNA levels (in lymphoblastoid cells) and that increased GAB2 mRNA levels are associated with significantly decreased LOAD pathology. These findings support the hypothesis that Gab2 may protect neurons against LOAD but due to significant population heterogeneity, it is still unclear whether this protection is detectable at the genetic level.
Brain Expression Genome-Wide Association Study (eGWAS) Identifies Human Disease-Associated Variants
Fanggeng Zou equal contributor,High Seng Chai equal contributor,Curtis S. Younkin equal contributor,Mariet Allen equal contributor,Julia Crook,V. Shane Pankratz,Minerva M. Carrasquillo,Christopher N. Rowley,Asha A. Nair,Sumit Middha,Sooraj Maharjan,Thuy Nguyen,Li Ma,Kimberly G. Malphrus,Ryan Palusak,Sarah Lincoln,Gina Bisceglio,Constantin Georgescu,Naomi Kouri,Christopher P. Kolbert,Jin Jen,Jonathan L. Haines,Richard Mayeux,Margaret A. Pericak-Vance,Lindsay A. Farrer,Gerard D. Schellenberg,Alzheimer's Disease Genetics Consortium,Ronald C. Petersen,Neill R. Graff-Radford,Dennis W. Dickson,Steven G. Younkin,Nilüfer Ertekin-Taner
PLOS Genetics , 2012, DOI: 10.1371/journal.pgen.1002707
Abstract: Genetic variants that modify brain gene expression may also influence risk for human diseases. We measured expression levels of 24,526 transcripts in brain samples from the cerebellum and temporal cortex of autopsied subjects with Alzheimer's disease (AD, cerebellar n = 197, temporal cortex n = 202) and with other brain pathologies (non–AD, cerebellar n = 177, temporal cortex n = 197). We conducted an expression genome-wide association study (eGWAS) using 213,528 cisSNPs within ±100 kb of the tested transcripts. We identified 2,980 cerebellar cisSNP/transcript level associations (2,596 unique cisSNPs) significant in both ADs and non–ADs (q<0.05, p = 7.70×10?5–1.67×10?82). Of these, 2,089 were also significant in the temporal cortex (p = 1.85×10?5–1.70×10?141). The top cerebellar cisSNPs had 2.4-fold enrichment for human disease-associated variants (p<10?6). We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. In our eGWAS, there was 2.9–3.3 fold enrichment (p<10?6) of significant cisSNPs with suggestive AD–risk association (p<10?3) in the Alzheimer's Disease Genetics Consortium GWAS. These results demonstrate the significant contributions of genetic factors to human brain gene expression, which are reliably detected across different brain regions and pathologies. The significant enrichment of brain cisSNPs among disease-associated variants advocates gene expression changes as a mechanism for many central nervous system (CNS) and non–CNS diseases. Combined assessment of expression and disease GWAS may provide complementary information in discovery of human disease variants with functional implications. Our findings have implications for the design and interpretation of eGWAS in general and the use of brain expression quantitative trait loci in the study of human disease genetics.
Determinants of Saving among Low-Income Individuals in Rural Uganda: Evidence from Assets Africa  [PDF]
Gina A. N. Chowa, Rainier D. Masa, David Ansong
Advances in Applied Sociology (AASoci) , 2012, DOI: 10.4236/aasoci.2012.24037
Abstract: Although research has shown that poor people in sub-Saharan Africa (SSA), including those living in rural areas save, little is known about the factors that influence saving and asset accumulation among this population. Using three theoretical perspectives on saving and asset accumulation, this study examines the broader determinants of saving and asset accumulation among low-income individuals in rural Uganda. Compared with the individual-oriented and sociological perspectives, institutional theory explains a large part of the variance in saving outcome among rural, low-income households. Wealth, proximity to financial institutions, financial education, and financial incentives are positively associated with higher saving performance. Findings suggest that poor people can and do save, particularly when institutional barriers to saving are removed. Institutional structures, which encourage low-income individuals to save, may contribute to a poverty reduction policy that shifts from just income supplementation to a more inclusive wealth promotion policy that assists people in creating their own pathways out of poverty.
Computational Topology for Regular Closed Sets
The I-TANGO project,:,T. J. Peters,J. Bisceglio,D. R. Ferguson,C. M. Hoffmann,T. Maekawa,N. M. Patrikalakis,T. Sakkalis,N. F. Stewart
Mathematics , 2004,
Abstract: The Boolean algebra of regular closed sets is prominent in topology, particularly as a dual for the Stone-Cech compactification. This algebra is also central for the theory of geometric computation, as a representation for combinatorial operations on geometric sets. However, the issue of computational approximation introduces unresolved subtleties that do not occur within "pure" topology. One major effort towards reconciling this mathematical theory with computational practice is our ongoing I-TANGO project. The acronym I-TANGO is an abbreviation for "Intersections - Topology, Accuracy and Numerics for Geometric Objects". The long-range goals and initial progress of the I-TANGO team in development of computational topology are presented.
Psychological Distress in California: Identifying Those at Greatest Risk  [PDF]
Gina Marie Piane
Open Journal of Preventive Medicine (OJPM) , 2014, DOI: 10.4236/ojpm.2014.48075

In order to address the unmet need for prevention and treatment of psychological distress and mental disorders, program planners and treatment providers need to identify individuals at high risk. The results of the California Health Interview Survey from 2009 (n = 47,614) indicate that there are high relative risks by demographics and smoking status for reports of psychological distress and intermediate measures: feeling nervous, hopeless, worthless, depressed, restless, and that everything is an effort. Specific demographic factors and smoking status can predict a greater need for prevention and treatment of psychological distress and lack of insurance coverage for treatment. Profiles associated with high risk can help in referral for diagnosis or to plan prevention programs.

Maternal Mortality Correlates by Nation  [PDF]
Gina Marie Piane
Open Journal of Preventive Medicine (OJPM) , 2014, DOI: 10.4236/ojpm.2014.410085
Abstract: Background: This study reports the results of a secondary analysis of data provided by the World Health Organization to determine the correlates of maternal mortality among all reporting nations worldwide. Historically, maternal mortality ratios have declined in nations that provided a system for access to skilled care for the majority of its women. Currently, maternal mortality ratios are associated with access to skilled care as well as economic indicators, literacy, education, access to contraceptives, transportation and HIV prevalence. Methods: Descriptive statistics, bi-variate correlations and multiple linear regression analyses are reported using maternal mortality ratios as the dependent variable. In addition, an examination of countries that are exceptions to the regression is also reported. Results: Strong positive Pearson two-tailed correlations were found between MMR and infant mortality rate (0.866), total fertility rate (0.854), poverty rate (0.756), and adolescent fertility rate (0.710). Strong negative correlations were found between MMR and percentage of births attended by a skilled attendant (-0.786), percentage of women using contraceptives (-0.786), and adult literacy rate (-0.710). Eighty-one percent of the variation in MMR can be explained by differences in IMR, percent of births attended by a skilled provider, percent of women using contraceptive, total fertility rate, adolescent fertility rate, adult literacy rate and poverty. Discussion: Examination of the correlates of maternal mortality gives direction to the effort to achieve the WHO’s Millennium Development Goal of reducing maternal mortality by two-thirds from 1995-2015.
Determinants of Life Insurance Policy Surrenders  [PDF]
Thomas Poufinas, Gina Michaelide
Modern Economy (ME) , 2018, DOI: 10.4236/me.2018.98089
Abstract: Life insurance policies assist individuals maintain the value of their money and build savings to be used in the future. However in times of crisis their attitude may change. On one hand, they have an interest in keeping their policies, as they can be used to cover their future, medium-term or long-term needs in case of retirement or death. On the other hand, they may need the premium money or the accumulated savings to meet short-term needs so they lapse or surrender them—when a surrender value exists. A natural question is what are the drivers of the behavior of the insured? When do they decide to stop them and when do they choose to maintain them? We use linear regression to identify how certain main macroeconomic variables (Gross Domestic Product (GDP) per capita growth, unemployment, inflation, short-term and long term interest rates, and consumer confidence index) can explain the behavior of the insured towards keeping or interrupting their life insurance policy. We do that for pension savings (pure and plain vanilla endowment—including pensions), term life, whole life and unit linked individual policies.
Stress among general practitioners of Kwa-Dukuza, Kwa-Zulu Natal
Indiran Govender,Gina Joubert,Stefanus D.W. Oosthuizen
African Journal of Primary Health Care & Family Medicine , 2009, DOI: 10.4102/phcfm.v1i1.39
Abstract: Background: Stress and burnout are prevalent among the caring professionals, including doctors and nurses. The work-related stress rate among the general working population is 18% whilst among doctors it is around 28%. Stress in general practitioners (GPs) can result in multiple negative consequences. Detecting stress early may have positive outcomes for doctors, their families and the people they care for at their practice. Method: A cross-sectional, descriptive study using a self-administered, standardised questionnaire (12-item General Health Questionnaire [GHC]) was performed on the 30 general practitioners in Kwa-Dukuza. Confidentiality and anonymity were maintained. Results: 26 of the 30 GPs (87%) responded to the survey. 10 GPs (38%) were stressed as per the GHQ, six of whom were severely stressed. 22 reported that they felt stressed at work (subjectively). Conclusion: The results indicated that stress among Kwa-Dukuza GPs is slightly higher (38%) than found in other studies that indicate a prevalence of 28% among doctors. How to cite this article: Govender I, Joubert G, Oosthuizen SDW. Stress among general practitioners of Kwa- Dukuza, Kwa-Zulu Natal. Afr J Prm Health Care Fam Med. 2009;1(1), Art.#39, 4 pages. DOI: 10.4102/ phcfm.v1i1.39
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