Journal of Community Genetics

, Volume 10, Issue 1, pp 121–128 | Cite as

Clusters of genetic diseases in Brazil

  • Gabriela Costa Cardoso
  • Marcelo Zagonel de Oliveira
  • Vanessa Rodrigues Paixão-Côrtes
  • Eduardo Enrique Castilla
  • Lavínia Schuler-FacciniEmail author
Original Article


The aim of this paper is to present a database of isolated communities (CENISO) with high prevalence of genetic disorders or congenital anomalies in Brazil. We used two strategies to identify such communities: (1) a systematic literature review and (2) a “rumor strategy” based on anecdotal accounts. All rumors and reports were validated in a stepwise process. The bibliographical search identified 34 rumors and 245 rumors through the rumor strategy, and 144 were confirmed. A database like this one presented here represents an important tool for the planning of health priorities for rare diseases in low- and middle-income countries with large populations.


Genetic isolates Rumors Endogamy Congenital anomalies Rare diseases 


Funding information

Financial support was provided by the following agencies: INCT-INAGEMP; Ministry of Science and Technology/CNPq (grant no. 476978/2008-4); Coordination for the Improvement of Higher Education Personnel (CAPES).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Research involving human participants and/or animals

This article does not contain any studies with human participants or animals performed by any of the authors.

Data included here refer to identified human subpopulations in which all individual human subjects were anonymized at the initial registration phase. Brazilian legislation (Resolução CNS 466/2012) does not require IRB approval for data obtained from public databases, as is the case for CENISO.

Supplementary material

12687_2018_369_MOESM1_ESM.docx (32 kb)
ESM 1 (DOCX 31 kb)
12687_2018_369_MOESM2_ESM.docx (29 kb)
ESM 2 (DOCX 29 kb)


  1. Bittles AH (1994) The role and significance of consanguinity as a demographic variable. Pop Dev Rev 20:561–584CrossRefGoogle Scholar
  2. Bittles AH, Black ML (2010) Consanguinity, human evolution, and complex diseases. PNAS 7(1):1779–1786CrossRefGoogle Scholar
  3. Boris F (1995) História do Brasil. Publisher of the University of São Paulo; Foundation for the Development of Education, São PauloGoogle Scholar
  4. Castilla EE, Schüler-Faccini L (2014) From rumors to genetic isolates. Genet Mol Biol 37(1Suppl):186–193CrossRefGoogle Scholar
  5. Chaves RG, Coelho JC, Michelin-Tirelli K et al (2011) Successful screening for Gaucher disease in a high-prevalence population in Tabuleiro do Norte (Northeastern Brazil): a cross-sectional study. JIMD Rep 1:73–78CrossRefGoogle Scholar
  6. Chkioua L, Khedhiri S, Ben Turkia H, Chahed H, Ferchichi S, Ben Dridi M, Laradi S, Miled A (2011) Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population. Diagn Pathol 6:113CrossRefGoogle Scholar
  7. Costa-Motta FM, Bender F, Acosta A, Abé-Sandes K, Machado T, Bomfim T, Boa Sorte T, da Silva D, Bittles AH, Giugliani R, Leistner-Segal S (2014) A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity. Hum Hered 77:189–196CrossRefGoogle Scholar
  8. Dillenburg CV, Bandeira IC, Tubino TV, Rossato LG, Dias ES, Bittelbrunn AC, Leistner-Segal S (2012) Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil. Genet Mol Biol 35(3):599–602CrossRefGoogle Scholar
  9. el-Hazmi MA, al-Swailem AR, Warsy AS, al-Swailem AM, Sulaimani R, al-Meshari AA (1995) Consanguinity among the Saudi Arabian population. J Med Genet 32(8):623–626CrossRefGoogle Scholar
  10. Elliot P, Wakefield J (2001) Disease clusters: should they be investigated, and, if so, when and how? J R Statist Soc A 164(1):3–12CrossRefGoogle Scholar
  11. Freire-Maia A (1975) Genetics of acheiropodia (the handless and footless families of Brazil). Clin Genet 7(2):98–102CrossRefGoogle Scholar
  12. Freire-Maia N (1957) Inbreeding in Brazil. Am J Hum Genet 9:284–298Google Scholar
  13. Freire-Maia N (1958) Consanguineous marriages in Brazil. I. Structure of such marriages. II. Factors of geographic distribution. Eugen Quart 5:105–114CrossRefGoogle Scholar
  14. Freire-Maia N, Cavalli IJ (1978) Genetic investigations in a Northern Brazilian island. I. Population structure. Hum Hered 28(5):386–396CrossRefGoogle Scholar
  15. Freire-Maia N, Andrade FL, Athayde-Neto A et al (1978) Genetic investigations in a Northern Brazilian island. II. Random drift. Hum Hered 28(6):401–410CrossRefGoogle Scholar
  16. Freire-Maia N (1990a) Genetic effects in Brazilian population due to consanguineous marriages. Am J Med Genet 3(1):115–117CrossRefGoogle Scholar
  17. Freire-Maia N (1990b) Consanguinity marriages in Brazil. Rev Bras Biol 50(4):863–866Google Scholar
  18. Gosadi IM, Goyder EC, Teare MD (2014) Investigating the potential effect of consanguinity on type 2 diabetes susceptibility in a Saudi population. Hum Hered 77(1–4):197–206CrossRefGoogle Scholar
  19. Guerra-Junior G (2005) Cristãos-novos no nordeste e os anões de Orobó (PE): a genética molecular ligada à história do Brasil. Arq Bras Endocrinol Metab 49(3):337–338CrossRefGoogle Scholar
  20. IBGE (2010) Instituto Brasileiro de Geografia e Estatística. Available at: Accessed 20 May 2017
  21. Jaber L, Halpern GJ, Shohat M (1998) The impact of consanguinity worldwide. Community Genet 1(1):12–17Google Scholar
  22. Jaber L, Halpern GJ, Shohat T (2000) Trends in the frequencies of consanguineous marriages in the Israeli Arab community. Clin Genet 58(2):106–110CrossRefGoogle Scholar
  23. Jorge AAL, Menezes-Filho HC, Lins TSS et al (2005) Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity. Arq Bras Endocrinol Metabol 49(3):384–389CrossRefGoogle Scholar
  24. Krieger H, Morton NE, Mi MP, Azevêdo E, Freire-Maia A, Yasuda N (1965) Racial admixture in northeastern Brazil. Ann Hum Genet 29(2):113–125CrossRefGoogle Scholar
  25. Laron Z (2004) Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003. J Clin Endocrinol Metab 89(3):1031–1044CrossRefGoogle Scholar
  26. Liascovich R, Rittler M, Castilla EE (2001) Consanguinity in South America: demographic aspects. Hum Hered 51(1–2):27–34CrossRefGoogle Scholar
  27. Machado TM, Bomfim TF, Souza LV et al (2013) Types of marriages, population structure and genetic disease. J Biosoc Sci 45(4):461–470CrossRefGoogle Scholar
  28. Morton NE (1964) Genetic studies of Northeastern Brazil. Cold Spring Harb Symp Quant Biol 29:69–79CrossRefGoogle Scholar
  29. Pedroso JL, Braga-Neto P, Radvany J, Barsottini OG (2012) Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia. Arq Neuropsiquiatr 70(8):630–632CrossRefGoogle Scholar
  30. Santos S, Kok F, Weller M, de Paiva FR, Otto PA (2010) Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders. Genet Mol Biol 33(2):220–223CrossRefGoogle Scholar
  31. Weller M, Tanieri M, Pereira JC, Almeida ES, Kok F, Santos S (2012) Consanguineous unions and the burden of disability: a population-based study in communities of Northeastern Brazil. Am J Hum Biol 24(6):835–840CrossRefGoogle Scholar
  32. Zlotogora J (2007) Multiple mutations responsible for frequent genetic diseases in isolated populations. Eur J Hum Genet 15(3):272–278CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Post-Graduate Course in Genetics and Molecular Biology, Institute of BiosciencesUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  2. 2.Advanced Visualization Laboratory (VIZLab)Universidade do Vale dos Sinos (UNISINOS)São LeopoldoBrazil
  3. 3.Biology Department, Biology InstituteFederal University of BahiaSalvadorBrazil
  4. 4.Latin American Collaborative Study of Congenital Malformations (ECLAMC)FIOCRUZ – GenéticaRio de JaneiroBrazil
  5. 5.National Institute of Population Medical Genetics (INAGEMP)Porto AlegreBrazil

Personalised recommendations