Literature DB >> 29641722

Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil).

Isabella Brasil Succi1, Luís Cristóvão Pôrto2, Patricia Mariana Gonçalves da Rocha Porto Domingues3, João Carlos Macedo Fonseca1.   

Abstract

Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria cutanea tarda from a mixed population. Thirty patients living in Rio de Janeiro with sporadic porphyria cutanea tarda were studied for the genetic ancestry through informative markers - INDELS. There was a significant predominance of European ancestry across the sample of patients with porphyria cutanea tarda (70.2%), and a small contribution of African and Amerindian ancestry, 20.1% and 10.9%, respectively.

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Year:  2018        PMID: 29641722      PMCID: PMC5871387          DOI: 10.1590/abd1806-4841.20186666

Source DB:  PubMed          Journal:  An Bras Dermatol        ISSN: 0365-0596            Impact factor:   1.896


  9 in total

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Authors:  Mary E Horner; Ali Alikhan; Suzanne Tintle; Silvia Tortorelli; Dawn Marie R Davis; Jennifer L Hand
Journal:  Int J Dermatol       Date:  2013-12       Impact factor: 2.736

2.  Analysis of genetic ancestry in the admixed Brazilian population from Rio de Janeiro using 46 autosomal ancestry-informative indel markers.

Authors:  Fernanda Saloum Neves Manta; Rui Pereira; Alexandre Caiafa; Dayse Aparecida Silva; Leonor Gusmão; Elizeu Fagundes Carvalho
Journal:  Ann Hum Biol       Date:  2012-11-15       Impact factor: 1.533

Review 3.  The cutaneous porphyrias.

Authors:  Danja Schulenburg-Brand; Ruwani Katugampola; Alexander V Anstey; Michael N Badminton
Journal:  Dermatol Clin       Date:  2014-05-05       Impact factor: 3.478

4.  Neither self-reported ethnicity nor declared family origin are reliable indicators of genomic ancestry.

Authors:  Bruna Ribeiro de Andrade Ramos; Maria Paula Barbieri D'Elia; Marcos Antônio Trindade Amador; Ney Pereira Carneiro Santos; Sidney Emanuel Batista Santos; Erick da Cruz Castelli; Steven S Witkin; Hélio Amante Miot; Luciane Donida Bartoli Miot; Márcia Guimarães da Silva
Journal:  Genetica       Date:  2016-03-17       Impact factor: 1.082

5.  Genetic ancestry analysis in non-alcoholic fatty liver disease patients from Brazil and Portugal.

Authors:  Lourianne Nascimento Cavalcante; Jose Tadeu Stefano; Mariana V Machado; Daniel F Mazo; Fabiola Rabelo; Kiyoko Abe Sandes; Flair José Carrilho; Helena Cortez-Pinto; Andre Castro Lyra; Claudia P de Oliveira
Journal:  World J Hepatol       Date:  2015-06-08

6.  Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients.

Authors:  Zsuzsanna Nagy; Ferenc Kószó; Alajos Pár; Gabriella Emri; Irén Horkay; Margit Horányi; Oszkár Karádi; György Rumi; Márta Morvay; Viktória Varga; Attila Dobozy; Gyula Mózsik
Journal:  Liver Int       Date:  2004-02       Impact factor: 5.828

7.  Straightforward inference of ancestry and admixture proportions through ancestry-informative insertion deletion multiplexing.

Authors:  Rui Pereira; Christopher Phillips; Nádia Pinto; Carla Santos; Sidney Emanuel Batista dos Santos; António Amorim; Ángel Carracedo; Leonor Gusmão
Journal:  PLoS One       Date:  2012-01-17       Impact factor: 3.240

8.  Genomic ancestry, self-reported "color" and quantitative measures of skin pigmentation in Brazilian admixed siblings.

Authors:  Tailce K M Leite; Rômulo M C Fonseca; Nanci M de França; Esteban J Parra; Rinaldo W Pereira
Journal:  PLoS One       Date:  2011-11-02       Impact factor: 3.240

9.  Assessment of the relationship between self-declared ethnicity, mitochondrial haplogroups and genomic ancestry in Brazilian individuals.

Authors:  Mari M S G Cardena; Andrea Ribeiro-Dos-Santos; Sidney Santos; Alfredo J Mansur; Alexandre C Pereira; Cintia Fridman
Journal:  PLoS One       Date:  2013-04-24       Impact factor: 3.240

  9 in total

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