Mara Helena Hutz

ORCID: 0000-0002-9146-1229
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About
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Research Areas
  • Attention Deficit Hyperactivity Disorder
  • Forensic and Genetic Research
  • Pharmacogenetics and Drug Metabolism
  • Neurotransmitter Receptor Influence on Behavior
  • Autism Spectrum Disorder Research
  • Genetic Associations and Epidemiology
  • Hemoglobinopathies and Related Disorders
  • Bipolar Disorder and Treatment
  • Race, Genetics, and Society
  • Iron Metabolism and Disorders
  • Genetic diversity and population structure
  • Parkinson's Disease Mechanisms and Treatments
  • Lipoproteins and Cardiovascular Health
  • Indigenous Health and Education
  • Diabetes, Cardiovascular Risks, and Lipoproteins
  • Genetics and Neurodevelopmental Disorders
  • Nutrition, Genetics, and Disease
  • Child and Adolescent Psychosocial and Emotional Development
  • Drug Transport and Resistance Mechanisms
  • Estrogen and related hormone effects
  • Children's Physical and Motor Development
  • Neurological disorders and treatments
  • Neural and Behavioral Psychology Studies
  • Functional Brain Connectivity Studies
  • Fish biology, ecology, and behavior

Hospital de Clínicas de Porto Alegre
1996-2025

Universidade Federal do Rio Grande do Sul
2014-2024

University of Rio Grande and Rio Grande Community College
2004-2023

Universidade Federal do Rio Grande
1993-2022

Universidade Federal do Pará
1988-2021

GTx (United States)
2014-2017

Universidade Federal de Pelotas
2016

National Council for Scientific and Technological Development
2006-2016

Universidade Católica de Pelotas
2016

Universidade de São Paulo
1998-2016

Based on pre-DNA racial/color methodology, clinical and pharmacological trials have traditionally considered the different geographical regions of Brazil as being very heterogeneous. We wished to ascertain how such diversity regional color categories correlated with ancestry. Using a panel 40 validated ancestry-informative insertion-deletion DNA polymorphisms we estimated individually European, African Amerindian ancestry components 934 self-categorized White, Brown or Black Brazilians from...

10.1371/journal.pone.0017063 article EN cc-by PLoS ONE 2011-02-16

Estimating the proportions of different ancestries in admixed populations is very important population genetics studies, and it particularly for detecting substructure effects case-control association studies. In this work, a set 48 ancestry-informative insertion-deletion polymorphisms (INDELs) were selected with goal efficiently measuring three (sub-Saharan African, European, Native American) mixed populations. All markers can be easily analyzed via multiplex PCR detected standard capillary...

10.1002/humu.21159 article EN Human Mutation 2009-12-01
Joanna Martin Raymond K. Walters Ditte Demontis Manuel Mattheisen Sang Lee and 95 more Elise Robinson Isabell Brikell Laura Ghirardi Henrik Larsson Paul Lichtenstein Nicholas Eriksson Thomas Werge Preben Bo Mortensen Marianne Giørtz Pedersen Ole Mors Merete Nordentoft David M. Hougaard Jonas Bybjerg‐Grauholm Naomi R. Wray Barbara Franke Stephen V. Faraone Michael O’Donovan Anita Thapar Anders D. Børglum Benjamin M. Neale Michelle Agee Babak Alipanahi Adam Auton Robert K. Bell Katarzyna Bryc Sarah L. Elson Pierre Fontanillas Nicholas A. Furlotte David A. Hinds Bethann S. Hromatka Karen E. Huber Aaron Kleinman Nadia K. Litterman Matthew H. McIntyre Joanna L. Mountain Carrie A. M. Northover Steven J. Pitts J. Fah Sathirapongsasuti Olga V. Sazonova Janie F. Shelton Suyash Shringarpure Chao Tian Joyce Y. Tung Vladimir Vacic Catherine H. Wilson Özgür Albayrak Richard Anney Alejandro Arias Väsquez María J. Arranz Philip Asherson Tobias Banaschewski Tobias Banaschewski Claiton H.D. Bau Joseph Biederman Preben Bo Mortensen Anders D. Børglum Jan K. Buitelaar Miguel Casas Alice Charach Bru Cormand Jennifer Crosbie Søren Dalsgaard Mark J. Daly Ditte Demontis Astrid Dempfle Alysa E. Doyle Richard P. Ebstein Josephine Elia Stephen V. Faraone Stephen V. Faraone Manuel Föcker Barbara Franke Christine M. Freitag Joel Gelernter Michael Gill Eugênio H. Grevet Jan Haavik Hákon Hákonarson Ziarih Hawi Johannes Hebebrand Beate Herpertz‐Dahlmann Amaia Hervás Anke Hinney Sarah Hohmann Peter Holmans Mara Helena Hutz Abel Ickowitz Stefan Johansson Lindsey Kent Sarah Kittel‐Schneider Henry R. Kranzler Jonna Kuntsi Nanda Lambregts-Rommelse K. Langley Gerd Lehmkuhl

BackgroundAttention-deficit/hyperactivity disorder (ADHD) shows substantial heritability and is two to seven times more common in male individuals than female individuals. We examined putative genetic mechanisms underlying this sex bias: sex-specific heterogeneity higher burden of risk cases.MethodsWe analyzed genome-wide autosomal variants from the Psychiatric Genomics Consortium iPSYCH Project (n = 20,183 cases, n 35,191 controls) Swedish population register data 77,905 1,874,637...

10.1016/j.biopsych.2017.11.026 article EN cc-by Biological Psychiatry 2017-12-02

Our objective was to investigate the interactions between common polymorphisms in ABCB1, CYP3A4, and CYP3A5 genes lipid-lowering efficacy safety of 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitor simvastatin.One hundred sixteen hypercholesterolemic patients were prospectively screened by physical examination, medical history, clinical laboratory evaluation included this study. Subjects entering study treated with 20 mg/d simvastatin. Plasma lipid lipoprotein levels measured before...

10.1016/j.clpt.2005.08.003 article EN Clinical Pharmacology & Therapeutics 2005-09-27

Abstract Attention‐deficit hyperactivity disorder (ADHD) is one of the most common psychiatric disorders childhood. The role genetic factors in its etiology strongly supported by family, adoption, and twin studies. Several investigations have reported associations between ADHD both 7‐repeat allele 48 bp VNTR at DRD4 gene 10‐repeat 40 DAT1 gene, but results been inconsistent. A sample 81 Brazilian children adolescents their parents were screened for these VNTRs. An excess was observed when...

10.1002/ajmg.1408 article EN American Journal of Medical Genetics 2001-05-29

Abstract A total of 1,037 individuals living in five different sociogeographic regions Brazil were studied relation to 12 short tandem repeat polymorphisms. The objective was assess the degree European, African, and Amerindian contributions their gene pools. Although most genetic variability found within regions, significant differences also observed between regions. estimated relative proportions above‐indicated continental showed intermediate values those obtained with uniparental (mtDNA,...

10.1002/ajhb.10217 article EN American Journal of Human Biology 2003-10-27

This study aims to evaluate whether a previously reported association between homozygosity for the 10-repeat allele of dopamine transporter gene (10/10) and poor response methylphenidate (MPH) would be replicated in sample Brazilian attention deficit/hyperactivity disorder (ADHD) boys. In blind naturalistic study, 50 male ADHD youths were treated with MPH. Efficacy medication was measured by means 10-item Conners Abbreviated Rating Scale (ABRS), Children's Global Assessment (CGAS). While 75%...

10.1097/00008571-200208000-00011 article EN Pharmacogenetics 2002-08-01

DNA samples from 60 Mapuche Indians, representing 39 maternal lineages, were genetically characterized for (1) nucleotide sequences of the mtDNA control region; (2) presence or absence a nine base duplication in region V; (3) HLA loci DRB1 and DQA1; (4) variation at three nuclear genes with short tandem repeats; (5) polymorphic marker D2S44. The genetic profile population was compared to other Amerinds worldwide populations. Two highly portions region, comprising 650 nucleotides, amplified...

10.1007/978-3-0348-8583-6_17 article EN Birkhäuser Basel eBooks 1993-01-01

The enzyme monoamine oxidase A (MAO A) plays an important role in the metabolism of neurotransmitters. MAOA gene presents several polymorphisms, including a 30-bp VNTR promoter region (MAOA-uVNTR). Alleles with 3.5 and 4 repeats are 2-10 times more efficient than 3-repeat allele. Several studies have shown association between allele cluster externalizing behaviors alcoholism, antisocial personality, impulsivity. objective present study is to replicate different culture associations...

10.1002/ajmg.b.30290 article EN American Journal of Medical Genetics Part B Neuropsychiatric Genetics 2006-03-08

Preclinical studies have demonstrated the relevance of adrenergic alpha2A receptor on attentional process and mechanism action methylphenidate hydrochloride. Several molecular genetic investigations suggest a role for gene (ADRA2A) in attention-deficit/hyperactivity disorder (ADHD), especially inattentive dimension. However, effect ADRA2A response to humans has not been previously investigated, our knowledge.To evaluate association between -1291 C>G polymorphism clinical treatment children...

10.1001/archpsyc.64.2.218 article EN Archives of General Psychiatry 2007-02-01

By virtue of being the product genetic admixture three ancestral roots: Europeans, Africans and Amerindians, present day Brazilian population displays very high levels genomic diversity, which have important pharmacogenetic/-genomic (PGx) implications. Recognition this fact has prompted creation Pharmacogenomics Network (Refargen), a nationwide consortium research groups, with mission to provide leadership in PGx education Brazil, heath impact. Here, we original data review published results...

10.3389/fphar.2012.00191 article EN cc-by Frontiers in Pharmacology 2012-01-01

Dyskinesia and motor fluctuation are frequent serious complications of chronic levodopa therapy in patients with Parkinson's disease. Since genetic factors could play a role determining the occurrence these problems, aim present study was to investigate whether possible functional polymorphisms among DRD2 ANKK1 genes associated risk developing dyskinesia fluctuations disease patients.One hundred ninety nine treatment were genotyped for -141CIns/Del, rs2283265, rs1076560, C957T, TaqIA...

10.2217/pgs.12.149 article EN Pharmacogenomics 2012-11-01

The study of the HLA variability Native American populations revealed several alleles specific to one or more Latin indigenous populations. analysis Amerindian groups distributed all over continent might inform about area origin and dispersal these shed light on evolution this remarkable polymorphism. Moreover, haplotypes are excellent markers understand genetic relationships between For reasons, we characterized class II polymorphism in seven South compared results with those previously...

10.1046/j.1399-0039.2003.00139.x article EN Tissue Antigens 2003-11-11

Attention-deficit/hyperactivity disorder (ADHD) is a very common and heterogeneous psychiatric of childhood with marked inattentive, hyperactive, impulsive symptoms. The DBH gene, the locus that encodes enzyme dopamine-beta-hydroxylase (DbetaH), seems to be an important candidate gene for association studies, since DbetaH catalyzes conversion dopamine norepinephrine. aim this study was test between ADHD in sample 88 Brazilian nuclear families. Haplotype relative risk (HRR) analysis TaqI...

10.1002/ajmg.10194 article EN American Journal of Medical Genetics 2002-03-08

Estimates of African, European, and Amerindian contributions to the gene pool 11 predominantly African-derived South American populations were obtained using five autosomal one Y chromosome hypervariable loci, as well mitochondrial DNA (sequences first segment control region, plus two restriction sites presence or absence CoII/tRNA(Lys) intergenic 9-bp deletion). The three latter characteristics are reported here for time 42 individuals living in Brazilian populations. Thirty-eight sequences...

10.1002/(sici)1520-6300(1999)11:4<551::aid-ajhb15>3.0.co;2-z article EN American Journal of Human Biology 1999-01-01

Allele and genotype frequencies of the TaqI A polymorphism dopamine D2 receptor (DRD2) gene were compared in 115 alcohol-dependent Brazilian males 114 ethnically matched controls. Regression analyses performed to test for an interactive effect between DRD2 A1 allele measures stress harm avoidance on severity alcoholism number antisocial personality symptoms. slightly positive association genotypes with was observed, by standard molecular heterosis approaches. The showed significant...

10.1002/1096-8628(20000612)96:3<302::aid-ajmg13>3.0.co;2-i article EN American Journal of Medical Genetics 2000-01-01
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