Medicine and Health Sciences Commons^™

An Epigenetic Map Of Age-Associated Autosomal Loci In Northern European Families At High Risk For The Metabolic Syndrome, Omar Ali, Diana Cerjak, Jack W. Kent, Roland James, John Blangero, Melanie A. Carless, Yi Zhang

School of Medicine Publications

Background: The prevalence of chronic diseases such as cancer, type 2 diabetes, metabolic syndrome (MetS), and cardiovascular disease increases with age in all populations. Epigenetic features are hypothesized to play important roles in the pathophysiology of age-associated diseases, but a map of these markers is lacking. We searched for genome-wide age-associated methylation signatures in peripheral blood of individuals at high risks for MetS by profiling 485,000 CpG sites in 192 individuals of Northern European ancestry using the Illumina HM450 array. Subjects (ages 6-85 years) were part of seven extended families, and 73% of adults and 32% of children were overweight …

New Genetic Loci Link Adipose And Insulin Biology To Body Fat Distribution, D. Shungin, T. W. Winkler, D. C. Croteau-Chonka, T. Ferreira, A. E. Locke, R. Mägi, R. J. Strawbridge, T. H. Pers, K. Fischer, John Blangero

School of Medicine Publications

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10−8). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.

Genetic Studies Of Body Mass Index Yield New Insights For Obesity Biology, A. E. Locke, B. Kahali, S. I. Berndt, A. E. Justice, T. H. Pers, F. R. Day, C. Powell, S. Vedantam, M. L. Buchkovich, John Blangero

School of Medicine Publications

Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10-8), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20 % of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.

Comprehensive Assessment Of The Disputed Ret Y791f Variant Shows No Association With Medullary Thyroid Carcinoma Susceptibility, Rodrigo A. Toledo, Roxanne Hatakana, Delmar M. Lourenço, Susan C. Lindsey, Cleber P. Camacho, Marcio A. Almeida, José V. Lima, Tomoko Sekiya, Elena Garralda, John Blangero

School of Medicine Publications

Accurate interpretation of germline mutations of the rearranged during transfection (RET) proto-oncogene is vital for the proper recommendation of preventive thyroidectomy in medullary thyroid carcinoma (MTC)-prone carriers. To gain information regarding the most disputed variant of RET, ATA-A Y791F, we sequenced blood DNA samples from a cohort of 2904 cancer-free elderly individuals (1261 via Sanger sequencing and 1643 via whole-exome/genome sequencing). We also accessed the exome sequences of an additional 8069 individuals from non-cancer-related laboratories and public databanks as well as genetic results from the Catalogue of Somatic Mutations in Cancer (COSMIC) project. The mean allelic frequency observed in the …

Pleiotropic Locus For Emotion Recognition And Amygdala Volume Identified Using Univariate And Bivariate Linkage, Emma E.M. Knowles, Reese Mckay, Jack W. Kent, Emma Sprooten, Melanie A. Carless, Joanne E. Curran, Marcio A. Almeida, Thomas D. Dyer, Harald H.H. Göring, Ravi Duggirala, John Blangero

School of Medicine Publications

Objective: The role of the amygdala in emotion recognition is well established, and amygdala volume and emotion recognition performance have each been shown separately to be highly heritable traits, but the potential role of common genetic influences on both traits has not been explored. The authors investigated the pleiotropic influences of amygdala volume and emotion recognition performance. Method: In a sample of randomly selected extended pedigrees (N=858), the authors used a combination of univariate and bivariate linkage to investigate pleiotropy between amygdala volume and emotion recognition performance and followed up with association analysis. Results: The authors found a pleiotropic region …

Preconception And Early Pregnancy Air Pollution Exposures And Risk Of Gestational Diabetes Mellitus, Candace Robledo, Pauline Mendola, Edwina H. Yeung, Tuija Männistö, Rajeshwari Sundaram, Danping Liu, Qi Ying, Seth Sherman, Katherine Grantz

School of Medicine Publications

Background: Air pollution has been linked to gestational diabetes mellitus (GDM) but no studies have evaluated impact of preconception and early pregnancy air pollution exposures on GDM risk.

Methods: Electronic medical records provided data on 219,952 singleton deliveries to mothers with (n=11,334) and without GDM (n=208,618). Average maternal exposures to particulate matter (PM) ≤ 2.5μm (PM2.5) and PM2.5 constituents, PM ≤ 10μm (PM10), nitrogen oxides (NOx), carbon monoxide, sulfur dioxide (SO2) and ozone (O3) were estimated for the 3-month preconception window, first trimester, and gestational weeks 1-24 based on modified Community Multiscale Air Quality models for delivery hospital referral regions. …

Identification And Functional Characterization Of G6pc2 Coding Variants Influencing Glycemic Traits Define An Effector Transcript At The G6pc2-Abcb11 Locus, Anubha Mahajan, Xueling Sim, Hui Jin Ng, Alisa Manning, Manuel A. Rivas, Heather M. Highland, Adam E. Locke, Niels Grarup, Hae Kyung Im, John Blangero, Joanne E. Curran

School of Medicine Publications

Genome wide association studies (GWAS) for fasting glucose (FG) and insulin (FI) have identified common variant signals which explain 4.8% and 1.2% of trait variance, respectively. It is hypothesized that low-frequency and rare variants could contribute substantially to unexplained genetic variance. To test this, we analyzed exome-array data from up to 33,231 non-diabetic individuals of European ancestry. We found exome-wide significant (P<5×10-7) evidence for two loci not previously highlighted by common variant GWAS: GLP1R (p.Ala316Thr, minor allele frequency (MAF)=1.5%) influencing FG levels, and URB2 (p.Glu594Val, MAF = 0.1%) influencing FI levels. Coding variant associations can highlight potential effector genes at (non-coding) GWAS signals. At the G6PC2/ABCB11 locus, we identified multiple coding …

Transarterial Embolization Of Renal Tumors Improves Surgical Outcomes: A Case Series, Henry Reinhart, Melhem Ghaleb, Brian R. Davis

School of Medicine Publications

Introduction

Operative treatment of renal tumors can be associated with a high rate of perioperative morbidity related to hemorrhage and injury to adjacent anatomical structures. This morbidity of solid organ surgery is especially prevalent when the lesion involves chronic inflammation or a desmoplastic reaction from a rapidly growing tumor. No consensus on the use of transarterial embolization has been fashioned as the number of prospective studies is small. This study proposes to examine the beneficial effects of selective transarterial embolization of the kidney prior to surgical resection.

Presentation of case

A retrospective case matched review was performed of consecutive nephroureterectomies …

Normative And Standardized Data For Cognitive Measures In The Mexican Health And Aging Study, Silvia Mejia-Arango, Rebeca Wong, Alejandra Michaels-Obregón

School of Medicine Publications

Objective: To describe the cognitive instrument used in the Mexican Health and Aging Study (MHAS) in Mexican individuals aged 60 and over and to provide normative values for the Cross Cultural Cognitive Examination test and its modified versions (CCCE).

Materials and methods: The CCCE was administered to 5,120 subjects as part of a population-based sample free of neurologic and psychiatric disease from the MHAS 2012 survey. Normative data were generated by age and education for each test in the cognitive instrument as well as for the total cognition score. Pearson correlations and analysis of variance were used to examine the …

Estudio Sobre Los Usuarios Del Desayunador Salesiano Del Padre Chava, Marie-Laure Coubes, Eduardo González Fagoaga, Silvia Mejia-Arango, René Nevarez Sanchez, Laura Velasco Ortiz, Luis Calva Sánchez

School of Medicine Publications

En el año de 2014, el Colegio de la Frontera Norte realizó un estudio con la finalidad de caracterizar a la población de usuarios que asiste al desayunador, y así definir estrategias de atención acorde con las necesidades de la población.

Experimental Approaches To Derive Cd34+ Progenitors From Human And Nonhuman Primate Embryonic Stem Cells, Qiang Shi, John L. Vandeberg

School of Medicine Publications

Traditionally, CD34 positive cells are predominantly found in the umbilical cord and bone marrow, thus are considered as hematopoietic progenitors. Increasing evidence has suggested that the CD34+ cells represent a distinct subset of cells with enhanced progenitor activity; CD34 is a general marker of progenitor cells in a variety of cell types. Because the CD34 protein shows expression early on in hematopoietic and vascular-associated tissues, CD34+ cells have enormous potential as cellular agents for research and for clinical cell transplantation. Directed differentiation of embryonic stem cells will give rise to an inexhaustible supply of CD34+ cells, creating an exciting approach …

Activation Of T-Cell Protein-Tyrosine Phosphatase Suppresses Keratinocyte Survival And Proliferation Following Uvb Irradiation, Hyunseung Lee, Liza D. Morales, Thomas J. Slaga, Dae Joon Kim

School of Medicine Publications

Chronic exposure to UV radiation can contribute to the development of skin cancer by promoting protein-tyrosine kinase (PTK) signaling. Studies show that exposure to UV radiation increases the ligand-independent activation of PTKs and induces protein-tyrosine phosphatase (PTP) inactivation. In the present work, we report that T-cell PTP (TC-PTP) activity is stimulated during the initial response to UVB irradiation, which leads to suppression of keratinocyte cell survival and proliferation via the down-regulation of STAT3 signaling. Our results show that TC-PTP-deficient keratinocyte cell lines expressed a significantly increased level of phosphorylated STAT3 after exposure to low dose UVB. This increase corresponded with …

Shared Genetic Variance Between Obesity And White Matter Integrity In Mexican Americans, Elena A. Spieker, Peter Kochunov, Laura M. Rowland, Emma Sprooten, Anderson M. Winkler, Rene L. Olvera, Laura Almasy, Ravi Duggirala, Peter T. Fox, John Blangero, David C. Glahn, Joanne E. Curran

School of Medicine Publications

Obesity is a chronic metabolic disorder that may also lead to reduced white matter integrity, potentially due to shared genetic risk factors. Genetic correlation analyses were conducted in a large cohort of Mexican American families in San Antonio (N = 761, 58% females, ages 18–81 years; 41.3 ± 14.5) from the Genetics of Brain Structure and Function Study. Shared genetic variance was calculated between measures of adiposity [(body mass index (BMI; kg/m2) and waist circumference (WC; in)] and whole-brain and regional measurements of cerebral white matter integrity (fractional anisotropy). Whole-brain average and regional fractional anisotropy values for 10 major …

Disruption Of Skin Stem Cell Homeostasis Following Transplacental Arsenicosis; Alleviation By Combined Intake Of Selenium And Curcumin, Shiv Poojan, Sushil Kumar, Vikas Verma, Anupam Dhasmana, Mohtashim Lohani, Mukesh K. Verma

School of Medicine Publications

Of late, a consirable interest has grown in literature on early development of arsenicosis and untimely death in humans after exposure to iAs in drinking water in utero or during the childhood. The mechanism of this kind of intrauterine arsenic poisoning is not known; however it is often suggested to involve stem cells. We looked into this possibility by investigating in mice the influence of chronic in utero exposure to arsenical drinking water preliminarily on multipotent adult stem cell and progenitor cell counts at the beginning of neonatal age. We found that repeated intake of 42.5 or 85ppm iAs in …

Genetics Of Kidney Disease And Related Cardiometabolic Phenotypes In Zuni Indians: The Zuni Kidney Project, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Vallabh O. Shah, Arlene Bobelu, Jeanette Bobelu, Donica Ghahate, Antonia M. Harford, Susan S. Paine, Francesca Tentori

School of Medicine Publications

The objective of this study is to identify genetic factors associated with chronic kidney disease (CKD) and related cardiometabolic phenotypes among participants of the Genetics of Kidney Disease in Zuni Indians study. The study was conducted as a community-based participatory research project in the Zuni Indians, a small endogamous tribe in rural New Mexico. We recruited 998 members from 28 extended multigenerational families, ascertained through probands with CKD who had at least one sibling with CKD. We used the Illumina Infinium Human1M-Duo version 3.0 BeadChips to type 1.1 million single nucleotide polymorphisms (SNPs). Prevalence estimates for CKD, hyperuricemia, diabetes, and …

Discovering Schizophrenia Endophenotypes In Randomly Ascertained Pedigrees, David C. Glahn, Jeff T. Williams, Joanne E. Curran, Harald H. H. Goring, Thomas D. Dyer, Anderson M. Winkler, Rene L. Olvera, Ravi Duggirala, Laura Almasy, John Blangero

School of Medicine Publications

Background

Although case-control approaches are beginning to disentangle schizophrenia’s complex polygenic burden, other methods will likely be necessary to fully identify and characterize risk genes. Endophenotypes, traits genetically correlated with an illness, can help characterize the impact of risk genes by providing genetically relevant traits that are more tractable than the behavioral symptoms that classify mental illness. Here we present an analytic approach for discovering and empirically validating endophenotypes in extended pedigrees with very few affected individuals. Our approach indexes each family member’s risk as a function of shared genetic kinship with an affected individual, often referred to as the …

A Retrospective Examination Of Mean Relative Telomere Length In The Tasmanian Familial Hematological Malignancies Study, Nicholas B. Blackburn, Jac C. Charlesworth, James R. Marthick, Elizabeth M. Tegg, Katherine A. Marsden, Velandai Srikanth, John Blangero, Ray M. Lowenthal, Simon J. Foote, Joanne L. Dickinson

School of Medicine Publications

Telomere length has a biological link to cancer, with excessive telomere shortening leading to genetic instability and resultant malignant transformation. Telomere length is heritable and genetic variants determining telomere length have been identified. Telomere biology has been implicated in the development of hematological malignancies (HMs), therefore, closer examination of telomere length in HMs may provide further insight into genetic etiology of disease development and support for telomere length as a prognostic factor in HMs. We retrospectively examined mean relative telomere length in the Tasmanian Familial Hematological Malignancies Study using a quantitative PCR method on genomic DNA from peripheral blood samples. …

Binding Pattern Elucidation Of Nnk And Nnal Cigarette Smoke Carcinogens With Ner Pathway Enzymes: An Onco- Informatics Study, Qazi Mohammad Sajid Jamal, Anupam Dhasmana, Mohtashim Lohani, Sumbul Firdaus, Md Yousuf Ansari, Ganesh Chandra Sahoo, Shafiul Haque

School of Medicine Publications

Cigarette smoke derivatives like NNK (4-(Methylnitrosamino)-1-(3-pyridyl)-1-butanone) and NNAL (4-(methylnitrosamino)-1-(3-pyridyl)-1-butan-1-ol) are well-known carcinogens. We analyzed the interaction of enzymes involved in the NER (nucleotide excision repair) pathway with ligands (NNK and NNAL). Binding was characterized for the enzymes sharing equivalent or better interaction as compared to +Ve control. The highest obtained docking energy between NNK and enzymes RAD23A, CCNH, CDK7, and CETN2 were -7.13 kcal/mol, -7.27 kcal/mol, -8.05 kcal/mol and -7.58 kcal/mol respectively. Similarly the highest obtained docking energy between NNAL and enzymes RAD23A, CCNH, CDK7, and CETN2 were -7.46 kcal/mol, -7.94 kcal/mol, -7.83 kcal/mol and -7.67 kcal/mol respectively. In order …

Preconception Maternal And Paternal Exposure To Persistent Organic Pollutants And Birth Size: The Life Study, Candace A. Robledo, Edwina H. Yeung, Pauline Mendola, Rajeshwari Sundaram, Jose Maisog

School of Medicine Publications

Background: Persistent organic pollutants (POPs) are developmental toxicants, but the impact of both maternal and paternal exposures on offspring birth size is largely unexplored.

Objective: We examined associations between maternal and paternal serum concentrations of 63 POPs, comprising five major classes of pollutants, with birth size measures.

Methods: Parental serum concentrations of 9 organochlorine pesticides, 1 polybrominated biphenyl (PBB), 7 perfluoroalkyl chemicals (PFCs), 10 polybrominated diphenyl ethers (PBDEs), and 36 polychlorinated biphenyls (PCBs) were measured before conception for 234 couples. Differences in birth weight, length, head circumference, and ponderal index were estimated using multiple linear regression per 1-SD increase in …

Sex-Specific Genetic Effects In Physical Activity: Results From A Quantitative Genetic Analysis, Vincent P. Diego, Raquel Nichele De Chaves, John Blangero, Daniel Santos, Thayse Natacha Gomes, Fernanda Karina Dos Santos, Rui Garganta, Peter T. Katzmarzyk, José Ar Maia

School of Medicine Publications

Background: The objective of this study is to present a model to estimate sex-specific genetic effects on physical activity (PA) levels and sedentary behaviour (SB) using three generation families.

Methods: The sample consisted of 100 families covering three generations from Portugal. PA and SB were assessed via the International Physical Activity Questionnaire short form (IPAQ-SF). Sex-specific effects were assessed by genotype-by-sex interaction (GSI) models and sex-specific heritabilities. GSI effects and heterogeneity were tested in the residual environmental variance. SPSS 17 and SOLAR v. 4.1 were used in all computations.

Results: The genetic component for PA and SB domains varied from …

It Is Time To Focus On An Underestimated Epidemic, Gladys E. Maestre, Ricardo Nitrini

School of Medicine Publications

Contemporary dementia research has spurred remarkable interest and endogenous efforts by clinical and research teams in Latin America and the Caribbean (LAC). The combination of unprecedented high burden of dementia, low resource settings, and wide acceptance of age-related cognitive changes has put thousands of individuals and families in a vulnerable situation that requires immediate attention. This issue of Dementia & Neuropsychologia is dedicated to cognitive impairment and dementia in LAC, and presents a timely series of fourteen reviews and original articles from Argentina, Brazil, Chile, Colombia, Costa Rica, Cuba, Dominican Republic, Ecuador, Peru, Trinidad and Tobago, and Venezuela. Many of …

Building Capacity For Dementia Care In Latin America And The Caribbean, Francisco J. Gonzalez, Ciro Gaona, Marialcira Quintero, Carlos A. Chavez, Joyce Selga, Gladys E. Maestre

School of Medicine Publications

Latin America and the Caribbean (LAC) have limited facilities and professionals trained to diagnose, treat, and support people with dementia and other forms of cognitive impairment. The situation for people with dementia is poor, and worsening as the proportion of elderly in the general population is rapidly expanding. We reviewed existing initiatives and provided examples of actions taken to build capacity and improve the effectiveness of individuals, organizations, and national systems that provide treatment and support for people with dementia and their caregivers. Regional barriers to capacity building and the importance of public engagement are highlighted. Existing programs need to …

Characterizing Thalamo-Cortical Disturbances In Schizophrenia And Bipolar Illness, Alan Anticevic, Michael W. Cole, Grega Repovs, John D. Murray, Margaret S. Brumbaugh, Anderson M. Winkler, Aleksandar Savic, John H. Krystal, Godfrey D. Pearlson, David Glahn

School of Medicine Publications

Schizophrenia is a devastating neuropsychiatric syndrome associated with distributed brain dysconnectivity that may involve large-scale thalamo-cortical systems. Incomplete characterization of thalamic connectivity in schizophrenia limits our understanding of its relationship to symptoms and to diagnoses with shared clinical presentation, such as bipolar illness, which may exist on a spectrum. Using resting-state functional magnetic resonance imaging, we characterized thalamic connectivity in 90 schizophrenia patients versus 90 matched controls via: (1) Subject-specific anatomically defined thalamic seeds; (2) anatomical and data-driven clustering to assay within-thalamus dysconnectivity; and (3) machine learning to classify diagnostic membership via thalamic connectivity for schizophrenia and for 47 bipolar …

Setting Thresholds To Varying Blood Pressure Monitoring Intervals Differentially Affects Risk Estimates Associated With White-Coat And Masked Hypertension In The Population, Kei Asayama, Yan Li, Yu-Mei Gu, Azusa Hara, Yan-Ping Liu, Zhenyu Zhang, Fang-Fei Wei, Inés Lujambio, Luis J. Mena, Gladys E. Maestre

School of Medicine Publications

Outcome-driven recommendations about time intervals during which ambulatory blood pressure should be measured to diagnose white-coat or masked hypertension are lacking. We cross-classified 8237 untreated participants (mean age, 50.7 years; 48.4% women) enrolled in 12 population studies, using ≥140/≥90, ≥130/≥80, ≥135/≥85, and ≥120/≥70 mm Hg as hypertension thresholds for conventional, 24-hour, daytime, and nighttime blood pressure. White-coat hypertension was hypertension on conventional measurement with ambulatory normotension, the opposite condition being masked hypertension. Intervals used for classification of participants were daytime, nighttime, and 24 hours, first considered separately, and next combined as 24 hours plus daytime or plus nighttime, or plus …

Titanium Dioxide Nanoparticles As Guardian Against Environmental Carcinogen Benzo[Alpha]Pyrene, Anupam Dhasmana, Qazi Mohammad Sajid Jamal, Snober Shabnam Mir, Madan Lal Bramha Bhatt, Qamar Rahman, Richa Gupta, Mohd. Haris Siddiqui, Mohtashim Lohani

School of Medicine Publications

Polycyclic aromatic hydrocarbons (PAH), like Benzo[alpha]Pyrene (BaP) are known to cause a number of toxic manifestations including lung cancer. As Titanium dioxide Nanoparticles (TiO2 NPs) have recently been shown to adsorb a number of PAHs from soil and water, we investigated whether TiO2 NPs could provide protection against the BaP induced toxicity in biological system. A549 cells when co-exposed with BaP (25 mM, 50 mM and 75 mM) along with 0.1 mg/ml,0.5 mg/ml and 1 mg/ml of TiO2 NPs, showed significant reduction in the toxic effects of BaP, as measured by Micronucleus Assay, MTT Assay and ROS Assay. In order …

Molecular Docking Of Known Carcinogen 4- (Methyl-Nitrosamino)-1-(3-Pyridyl)-1-Butanone (Nnk) With Cyclin Dependent Kinases Towards Its Potential Role In Cell Cycle Perturbation, Mohd Haneef, Mohtashim Lohani, Anupam Dhasmana, Qazi Mohammad Sajid Jamal, S. M. A. Shahid, Sumbul Firdaus

School of Medicine Publications

Cell cycle is maintained almost all the times and is controlled by various regulatory proteins and their complexes (Cdk+Cyclin) in different phases of interphase (G1, S and G2) and mitosis of cell cycle. A number of mechanisms have been proposed for the initiation and progression of carcinogenesis by abruption in cell cycle process. One of the important features of cancer/carcinogenesis is functional loss of these cell cycle regulatory proteins particularly in CDKs and cyclins. We hypothesize that there is a direct involvement of these cell cycle regulatory proteins not only at the genetic level but also proteins level, during the …

Comparative Molecular Docking Studies With Abcc1 And Aquaporin 9 In The Arsenite Complex Efflux, Shiv Poojan, Anupam Dhasmana, Qazi Mohammad Sajid Jamal, Mohd Haneef, Mohtashim Lohani

School of Medicine Publications

Arsenic is the most toxic metalloid present in the natural environment in both organic and inorganic arsenic forms. Inorganic arsenic is often more hazardous than the organic form. Arsenite and arsenate compounds are the major inorganic forms which are toxic causing severe human health dysfunction including cancer. Excretion of arsenic from the system is found elusive. Therefore, it is of interest to screen channel proteins with the arsenic complex in the different combination of arsenic, GSH (glutathione) and arsenic, selenium using docking methods. The mode of arsenic removal. The complex structure revealed the mode of arsenic binding efficiency with the …

Omics-Squared: Human Genomic, Transcriptomic And Phenotypic Data For Genetic Analysis Workshop 19, John Blangero, Tanya M. Teslovich, Xueling Sim, Marcio Almeida, Goo Jun, Thomas D. Dyer, Matthew P. Johnson, Juan M. Peralta, Alisa K. Manning, Andrew R. Wood, Christian Fuchsberger, Vidya S. Farook, Rector Arya, David C. Glahn, Joanne E. Curran, Christopher Jenkinson, Harald H. H. Goring, Ravindranath Duggirala, Laura Almasy

School of Medicine Publications

Background

The Genetic Analysis Workshops (GAW) are a forum for development, testing, and comparison of statistical genetic methods and software. Each contribution to the workshop includes an application to a specified data set. Here we describe the data distributed for GAW19, which focused on analysis of human genomic and transcriptomic data.

Methods

GAW19 data were donated by the T2D-GENES Consortium and the San Antonio Family Heart Study and included whole genome and exome sequences for odd-numbered autosomes, measures of gene expression, systolic and diastolic blood pressures, and related covariates in two Mexican American samples. These two samples were a collection …

Geospatial Relationships Of Air Pollution And Acute Asthma Events Across The Detroit–Windsor International Border: Study Design And Preliminary Results, Lawrence D. Lemke, Lois E. Lamerato, Xiaohong Xu, Jason C. Booza, John J. Reiners Jr., Delbert M. Raymond Iii, Paul J. Villeneuve, Eric Lavigne, Dana Larkin, Helene J. Krouse

School of Medicine Publications

The Geospatial Determinants of Health Outcomes Consortium (GeoDHOC) study investigated ambient air quality across the international border between Detroit, Michigan, USA and Windsor, Ontario, Canada and its association with acute asthma events in 5- to 89-year-old residents of these cities. NO2, SO2, and volatile organic compounds (VOCs) were measured at 100 sites, and particulate matter (PM) and polycyclic aromatic hydrocarbons (PAHs) at 50 sites during two 2-week sampling periods in 2008 and 2009. Acute asthma event rates across neighborhoods in each city were calculated using emergency room visits and hospitalizations and standardized to the overall age and gender distribution of …

The Enigma Consortium: Large-Scale Collaborative Analyses Of Neuroimaging And Genetic Data, Paul M. Thompson, Jason L. Stein, Laura Almasy, Anderson M. Winkler, John Blangero, Joanne E. Curran, Ravi Duggirala, Thomas D. Dyer, Harald H. H. Goring, Peter T. Fox

School of Medicine Publications

The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger …