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Author (up) Altman, S.E.; Shankman, S.A. file  url
  Title What is the association between obsessive-compulsive disorder and eating disorders? Type Journal Article
  Year 2009 Publication Clinical Psychology Review Abbreviated Journal Clin Psychol Rev  
  Volume 29 Issue 7 Pages 638-646  
  Keywords Anorexia Nervosa/diagnosis/epidemiology/genetics/psychology; Bulimia Nervosa/diagnosis/epidemiology/genetics/psychology; Causality; Comorbidity; Cross-Sectional Studies; Diseases in Twins/genetics/psychology; Feeding and Eating Disorders/diagnosis/epidemiology/genetics/*psychology; Genotype; Humans; Longitudinal Studies; Obsessive-Compulsive Disorder/diagnosis/epidemiology/genetics/*psychology; Personality Disorders/diagnosis/epidemiology/genetics/psychology  
  Abstract Because eating disorders (EDs) and obsessive compulsive disorder (OCD) co-occur at high rates and can have functionally similar clinical presentations, it has been suggested that both constructs might be part of a common spectrum of disorders. Identifying the relationship between EDs and OCD may lead to the discovery of important shared core disease processes and/or mechanisms for maintenance. The objective of this paper is to understand the relationship between EDs and OCD by systematically reviewing epidemiological, longitudinal and family studies guided by five models of comorbidity posited by Klein and Riso (1993) and others. Though this literature is relatively small, the preponderance of evidence from these studies largely suggests that OCD/ED co-occur because of a shared etiological relationship. Limitations to extant literature, and suggestions for future research are discussed.  
  Call Number Serial 1824  
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Author (up) Baber, M.; Chaudhry, S.; Kelly, L.; Ross, C.; Carleton, B.; Berger, H.; Koren, G. file  url
  Title The pharmacogenetics of codeine pain relief in the postpartum period Type Journal Article
  Year 2015 Publication The Pharmacogenomics Journal Abbreviated Journal Pharmacogenomics J  
  Volume 15 Issue 5 Pages 430-435  
  Keywords Adult; Cesarean Section/adverse effects; Codeine/*administration & dosage; Female; Genotype; Glucuronosyltransferase/*genetics; Humans; Pain/drug therapy/*genetics/pathology; Pain Management; Pharmacogenetics; Polymorphism, Single Nucleotide; Postpartum Period; Pregnancy; Receptors, Opioid, mu/*genetics  
  Abstract The objective of this study was to examine interindividual variability in codeine requirements and pain management by examining select genetic polymorphisms in the codeine pharmacological pathway. The study included a nested cohort of 98 women who were prescribed codeine following cesarean section. Participants were genotyped for select polymorphisms of the COMT, ABCB1, CYP2D6, UGT2B7 and OPRM1 genes and instructed to describe their level of pain using the visual analog scale (mm) 1 h following each dose of codeine. Analysis revealed that reported pain increases with maternal age (P=0.041). Asians required more codeine than Caucasians (P=0.048). Significant differences in mean dose consumption were seen among the genotypic groups of the OPRM1 A118G (P=0.001) and UGT2B7 C802T (P=0.015) variants. These variants were found to predict codeine consumption in the cohort overall (P=0.000) and among Caucasians (P=0.001). These findings will assist in customizing therapy to effectively manage postpartum pain.  
  Call Number Serial 1573  
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Author (up) Buffet-Bataillon, S.; Rabier, V.; Betremieux, P.; Beuchee, A.; Bauer, M.; Pladys, P.; Le Gall, E.; Cormier, M.; Jolivet-Gougeon, A. file  url
  Title Outbreak of Serratia marcescens in a neonatal intensive care unit: contaminated unmedicated liquid soap and risk factors Type Journal Article
  Year 2009 Publication The Journal of Hospital Infection Abbreviated Journal J Hosp Infect  
  Volume 72 Issue 1 Pages 17-22  
  Keywords Bacterial Typing Techniques; Case-Control Studies; Cross Infection/*epidemiology/microbiology; DNA Fingerprinting; DNA, Bacterial/genetics; *Disease Outbreaks; Electrophoresis, Gel, Pulsed-Field; *Environmental Microbiology; Female; Genotype; Hand Disinfection/methods; Humans; Infant, Newborn; Infection Control/methods; Intensive Care Units, Neonatal; Male; Risk Factors; Serratia Infections/*epidemiology/microbiology; Serratia marcescens/classification/genetics/*isolation & purification; *Soaps  
  Abstract This study describes an outbreak of Serratia marcescens and its investigation and control in a neonatal intensive care unit (NICU). During a three-month period, five infants were colonised or infected by a single strain of S. marcescens. A case-control study, culture surveys and pulse-field gel electrophoresis analysis implicated a bottle soap dispenser as a reservoir of S. marcescens (P=0.032). Infants with S. marcescens colonisation or infection were also more likely to have been exposed to a central or percutaneous venous catheter (P=0.05) and had had longer exposure to endotracheal intubation (P=0.05). Soap dispensers are used in many hospitals and may be an unrecognised source of nosocomial infections. This potential source of infection could be reduced by using 'airless' dispensers which have no air intake for the distribution of soap. Prompt intervention and strict adherence to alcoholic hand disinfection were the key factors that led to the successful control of this outbreak.  
  Call Number Serial 1655  
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Author (up) Burt, S.A.; Barnes, A.R.; McGue, M.; Iacono, W.G. file  url
doi  openurl
  Title Parental divorce and adolescent delinquency: ruling out the impact of common genes Type Journal Article
  Year 2008 Publication Developmental Psychology Abbreviated Journal Dev Psychol  
  Volume 44 Issue 6 Pages 1668-1677  
  Keywords Adolescent; Adoption/psychology; Aggression/psychology; Antisocial Personality Disorder/epidemiology/*genetics/psychology; Causality; Conduct Disorder/epidemiology/*genetics/psychology; Cross-Sectional Studies; Divorce/*psychology/statistics & numerical data; Female; Genotype; Humans; Internal-External Control; Juvenile Delinquency/*psychology/statistics & numerical data; Male; Risk Factors; Sex Factors; *Social Environment  
  Abstract Although the well-documented association between parental divorce and adolescent delinquency is generally assumed to be environmental (i.e., causal) in origin, genetic mediation is also possible. Namely, the behavior problems often found in children of divorce could derive from similar pathology in the parents, pathology that is both heritable and increases the risk that the parent will experience divorce. To test these alternative hypotheses, the authors made use of a novel design that incorporated timing of divorce in a sample of 610 adoptive and biological families. They reasoned that if genes common to parent and child mediate this association, nonadopted youth should manifest increased delinquency in the presence of parental divorce even if the divorce preceded their birth (i.e., was from a prior parental relationship). However, should the association be environmental in origin, the authors reasoned that adolescents should manifest increased delinquency only in response to divorce exposure, and this association should not vary by adoption status. Results firmly supported the latter, suggesting that it is the experience of parental divorce, and not common genes, that drives the association between divorce and adolescent delinquency.  
  Call Number Serial 293  
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Author (up) Delattre, M.; Felix, M.A. file  url
  Title Microevolutionary studies in nematodes: a beginning Type Journal Article
  Year 2001 Publication BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology Abbreviated Journal Bioessays  
  Volume 23 Issue 9 Pages 807-819  
  Keywords Animals; *Biological Evolution; Caenorhabditis elegans/genetics; Drosophila/genetics; Genetic Techniques; Genetic Variation; Genotype; Mutagenesis; Nematoda/*classification/*genetics; *Polymorphism, Genetic  
  Abstract Comparisons between related species often allow the detailed genetic analysis of evolutionary processes. Here we advocate the use of the nematode Caenorhabditis elegans (and several other rhabditid species) as model systems for microevolutionary studies. Compared to Drosophila species, which have been a mainstay of such studies, C. elegans has a self-fertilizing mode of reproduction, a shorter life cycle and a convenient cell-level analysis of phenotypic variation. Data concerning its population genetics and ecology are still scarce, however. We review molecular, behavioral and developmental intraspecific polymorphisms for populations of C. elegans, Oscheius sp. 1 and Pristionchus pacificus. Focusing on vulval development, which has been well characterized in several species, we discuss relationships between patterns of variations: (1) for a given genotype (developmental variants), (2) after mutagenesis (mutability), (3) in different populations of the same species (polymorphisms) and (4) between closely related species. These studies have revealed that evolutionary variations between sister species affect those characters that show phenotypic developmental variants, that are mutable and that are polymorphic within species.  
  Call Number Serial 1024  
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Author (up) Domingue, B.W.; Fletcher, J.; Conley, D.; Boardman, J.D. file  url
doi  openurl
  Title Genetic and educational assortative mating among US adults Type Journal Article
  Year 2014 Publication Proceedings of the National Academy of Sciences of the United States of America Abbreviated Journal Proc Natl Acad Sci U S A  
  Volume 111 Issue 22 Pages 7996-8000  
  Keywords Continental Population Groups/genetics; Databases, Genetic; Educational Status; Ethnic Groups/genetics; Female; Genome-Wide Association Study; Genotype; Humans; Male; *Marriage; Metagenomics/*methods; Phenotype; *Sexual Behavior; *Spouses; United States; genetic homogamy; homophily; random mating  
  Abstract Understanding the social and biological mechanisms that lead to homogamy (similar individuals marrying one another) has been a long-standing issue across many fields of scientific inquiry. Using a nationally representative sample of non-Hispanic white US adults from the Health and Retirement Study and information from 1.7 million single-nucleotide polymorphisms, we compare genetic similarity among married couples to noncoupled pairs in the population. We provide evidence for genetic assortative mating in this population but the strength of this association is substantially smaller than the strength of educational assortative mating in the same sample. Furthermore, genetic similarity explains at most 10% of the assortative mating by education levels. Results are replicated using comparable data from the Framingham Heart Study.  
  Call Number Serial 1127  
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Author (up) Lash, T.L.; Lien, E.A.; Sorensen, H.T.; Hamilton-Dutoit, S. file  url
doi  openurl
  Title Genotype-guided tamoxifen therapy: time to pause for reflection? Type Journal Article
  Year 2009 Publication The Lancet Oncology Abbreviated Journal Lancet Oncol  
  Volume 10 Issue 8 Pages 825-833  
  Keywords Antineoplastic Agents, Hormonal/*therapeutic use; Breast Neoplasms/*drug therapy/*genetics; Cytochrome P-450 CYP2D6/genetics; Drug Resistance, Neoplasm/*genetics; Female; Genotype; Humans; Neoplasm Recurrence, Local/genetics; Receptors, Estrogen/genetics; Tamoxifen/metabolism/*therapeutic use; Tumor Markers, Biological/genetics  
  Abstract Tamoxifen remains a cornerstone of adjuvant therapy for patients with early stage breast cancer and oestrogen-receptor-positive tumours. Accurate markers of tamoxifen resistance would allow prediction of tamoxifen response and personalisation of combined therapies. Recently, it has been suggested that patients with inherited non-functional alleles of the cytochrome P450 CYP2D6 might be poor candidates for adjuvant tamoxifen therapy, because women with these variant alleles have reduced concentrations of the tamoxifen metabolites that most strongly bind the oestrogen receptor. In some studies, women with these alleles have a higher risk of recurrence than women with two functional alleles. However, dose-setting studies with clinical and biomarker outcomes, studies associating clinical outcomes with serum concentrations of tamoxifen and its metabolites, and a simple model of receptor binding, all suggest that tamoxifen and its metabolites should reach concentrations sufficient to achieve the therapeutic effect regardless of CYP2D6 inhibition. Ten epidemiology studies on the association between CYP2D6 genotype and breast cancer recurrence report widely heterogeneous results with relative-risk estimates outside the range of reasonable bounds. None of the explanations proposed for the heterogeneity of these results adequately account for the variability and no design feature sets apart any study or subset of studies as most likely to be accurate. The studies reporting a positive association might receive the most attention, because they report a result consistent with the profile of metabolite concentrations; not because they are more reliable by design. We argue that a recommendation for CYP2D6 genotyping of candidates for tamoxifen therapy, and its implicit conclusion regarding the association between genotype and recurrence risk, is premature.  
  Call Number Serial 197  
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Author (up) Lawrance, A.K.; Deng, L.; Rozen, R. file  url
doi  openurl
  Title Methylenetetrahydrofolate reductase deficiency and low dietary folate reduce tumorigenesis in Apc min/+ mice Type Journal Article
  Year 2009 Publication Gut Abbreviated Journal Gut  
  Volume 58 Issue 6 Pages 805-811  
  Keywords Adenoma/metabolism/*pathology; Adenomatous Polyposis Coli Protein/*genetics/metabolism; Animals; Apoptosis; Colorectal Neoplasms/metabolism/*pathology; DNA Methylation; *Diet; Female; Folic Acid/*administration & dosage/adverse effects; Genetic Predisposition to Disease; Genotype; Homocysteine/blood; Male; Methylenetetrahydrofolate Reductase (NADPH2)/*deficiency; Mice; Mice, Inbred C57BL; Mice, Mutant Strains; Pregnancy; Prenatal Nutritional Physiological Phenomena; Random Allocation; Thymine Nucleotides/analysis; Uridine Triphosphate/analysis; Weaning  
  Abstract BACKGROUND: Clinical studies suggest that mild methylenetetrahydrofolate reductase (MTHFR) deficiency and high dietary folate may reduce the risk for colorectal cancer. There is concern, however, that high folate intake (a consequence of food fortification) may enhance tumour growth in individuals with pre-existing tumours or genetic predisposition to tumorigenesis. AIM: To determine if Mthfr deficiency and low dietary folate influence tumorigenesis in mice genetically predisposed to form numerous intestinal adenomas (Apc(min/+)). METHODS: Male Apc(min/+) mice were mated with Mthfr(+/-) and/or Mthfr(+/+) females. Diets with variable folate content were administered either pre-natally or at weaning; tumours were counted in offspring at 10 weeks of age. Plasma homocysteine and levels of apoptosis, DNA methylation and nucleotide ratios (dUTP:dTTP) in normal (pre-neoplastic) intestine were measured. RESULTS: Apc(min/+) mice fed high folate diets from weaning developed more adenomas than those fed the folic acid-deficient diet (FADD) or the control diet (CD); Mthfr deficiency did not affect adenoma number. However, when the FADD and CD were administered to dams prior to conception, throughout pregnancy and continued in offspring post-weaning, Apc(min/+) offspring fed FADD developed fewer adenomas than those fed CD. Mthfr(+/-) genotype of the mother or of the offspring also reduced adenoma numbers in the Apc(min/+) offspring. Adenoma number was inversely correlated with plasma homocysteine (r = -0.49, p<0.005, intestinal dUTP/dTTP ratios (r = -0.42, p = 0.05), and levels of intestinal apoptosis (r = -0.36, p = 0.08). CONCLUSIONS: Low dietary folate and Mthfr deficiency reduce adenoma formation in mice predisposed to tumorigenesis, possibly through increased apoptosis consequent to hyperhomocysteinaemia and nucleotide imbalances.  
  Call Number Serial 305  
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Author (up) McKenzie, F.E.; Bossert, W.H. file  url
doi  openurl
  Title An integrated model of Plasmodium falciparum dynamics Type Journal Article
  Year 2005 Publication Journal of Theoretical Biology Abbreviated Journal J Theor Biol  
  Volume 232 Issue 3 Pages 411-426  
  Keywords Animals; Anopheles/parasitology; Antigenic Variation; Antigens, Protozoan/immunology; Genotype; Host-Parasite Interactions; Humans; Insect Vectors/parasitology; Malaria, Falciparum/*immunology/parasitology/transmission; *Models, Immunological; Plasmodium falciparum/growth & development/*immunology  
  Abstract The within-host and between-host dynamics of malaria are linked in myriad ways, but most obviously by gametocytes, the parasite blood forms transmissible from human to mosquito. Gametocyte dynamics depend on those of non-transmissible blood forms, which stimulate immune responses, impeding transmission as well as within-host parasite densities. These dynamics can, in turn, influence antigenic diversity and recombination between genetically distinct parasites. Here, we embed a differential-equation model of parasite-immune system interactions within each of the individual humans represented in a discrete-event model of Plasmodium falciparum transmission, and examine the effects of human population turnover, parasite antigenic diversity, recombination, and gametocyte production on the dynamics of malaria. Our results indicate that the local persistence of P. falciparum increases with turnover in the human population and antigenic diversity in the parasite, particularly in combination, and that antigenic diversity arising from meiotic recombination in the parasite has complex differential effects on the persistence of founder and progeny genotypes. We also find that reductions in the duration of individual human infectivity to mosquitoes, even if universal, produce population-level effects only if near-absolute, and that, in competition, the persistence and prevalence of parasite genotypes with gametocyte production concordant with data exceed those of genotypes with higher gametocyte production. This new, integrated approach provides a framework for investigating relationships between pathogen dynamics within an individual host and pathogen dynamics within interacting host and vector populations.  
  Call Number Serial 1124  
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Author (up) Muszlak, M.; Pissard, S.; Badens, C.; Chamouine, A.; Maillard, O.; Thuret, I. file  url
  Title Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island Type Journal Article
  Year 2015 Publication Hemoglobin Abbreviated Journal Hemoglobin  
  Volume 39 Issue 3 Pages 156-161  
  Keywords Adolescent; Anemia, Sickle Cell/diagnosis/*genetics/therapy; Child; Child, Preschool; Cohort Studies; Erythrocyte Indices; Female; Gene Expression Regulation; *Genes, Modifier; Genetic Association Studies; Genotype; Hemoglobin, Sickle/genetics; Humans; Infant; Male; Phenotype; Polymorphism, Single Nucleotide; Quantitative Trait Loci; alpha-Thalassemia/diagnosis/genetics; beta-Thalassemia/diagnosis/genetics; Bcl11a; HSB1L-MYB intergenic region; Mayotte Island; XmnI polymorphism; sickle cell disease  
  Abstract Sickle cell disease presents a great clinical variability that remains largely misunderstood. New disease protective genetic modifiers acting mainly through an increased Hb F level have recently been described. We studied relations between clinical and hematological phenotypes and known sickle cell disease genetic modifiers in patients from Mayotte Island, a remote French territory located in the Indian Ocean. Eighty-two children with sickle cell disease were enrolled; their median age was 5.9 years (range 1-18). Clinical and hematological features of sickle cell disease were retrospectively collected. Genetic studies included determination of beta-globin genotypes [Hb SS, Hb S-beta(0)-thalassemia (Hb S-beta(0)-thal), Hb S-beta(+)-thal], beta(S)-globin locus haplotype, alpha-thalassemia (alpha-thal), and single nucleotide polymorphisms (SNPs) located in quantitative trait loci for Hb F expression (XmnI polymorphism, BCL11A rs4671393 and rs11886868, intergenic region of HBS1L-MYB rs28384513, rs4895441 and rs9399137). Univariate and multivariate analyses were conducted. Twenty-eight percent of the patients had Hb S-beta-thal (eight different mutations in 21 patients), 55.0% had the -alpha(3.7) (rightward) deletion and 88.0% of the homozygous Hb SS patients were carrying a homozygous Bantu haplotype. In the multivariate model, the prognosis role of the SNP BCL11A rs4671393 was confirmed in the studied population showing a significant association with an elevated Hb F level and with a low hospitalization rate. The -alpha(3.7) deletion, XmnI polymorphism and intergenic region HBS1L-MYB SNPs were not significantly linked to any clinical criteria of severity. This report, the first to describe the main features of children with sickle cell disease on Mayotte Island, highlights the protective effect of the BCL11A polymorphism in this population.  
  Call Number Serial 1375  
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