OBJECTIVES: The aim of this study was to identify communities at high risk of transmitting recessive genetic disorders by measuring levels of endogamy and offspring's rate of disabilities. METHODS: In a house-to-house population based-survey in the state of Paraíba, 20,462 couples were interviewed regarding kinship relation, number of siblings and offspring affected by mental or physical disabilities. RESULTS: The rate of consanguineous unions in the communities ranged from 6.0% to 41.14%, showing an average value of 20.19% ± 9.13%. The overall average inbreeding coefficient (F) was 0.00602 ± 0.00253, ranging from 0.00134 to 0.01182. Communities situated on the backlands had an increased average value of F compared to those closer to the seashore (P = 0.024). The average rate of disabled offspring varied from 2.96% ± 0.68% for unrelated unions to 10.44% ± 16.86% for related couples at the level of double first cousins or uncle-niece. The Spearman correlation coefficient between the overall rate of disabled offspring from all couples together and F was 0.510 (P < 0.01). CONCLUSION: Inbreeding increases the risk of disability which is unevenly distributed, varying considerably even in neighboring communities with similar Human Development Index and population density. Higher inbreeding communities are mostly located on the more economically underdeveloped backlands than on the coastal region. The identification of communities at high risk for genetic disorders could serve as basis for the establishment of Community Genetics programs.
OBJECTIVES: The aim of this study was to identify communities at high risk of transmitting recessive genetic disorders by measuring levels of endogamy and offspring's rate of disabilities. METHODS: In a house-to-house population based-survey in the state of Paraíba, 20,462 couples were interviewed regarding kinship relation, number of siblings and offspring affected by mental or physical disabilities. RESULTS: The rate of consanguineous unions in the communities ranged from 6.0% to 41.14%, showing an average value of 20.19% ± 9.13%. The overall average inbreeding coefficient (F) was 0.00602 ± 0.00253, ranging from 0.00134 to 0.01182. Communities situated on the backlands had an increased average value of F compared to those closer to the seashore (P = 0.024). The average rate of disabled offspring varied from 2.96% ± 0.68% for unrelated unions to 10.44% ± 16.86% for related couples at the level of double first cousins or uncle-niece. The Spearman correlation coefficient between the overall rate of disabled offspring from all couples together and F was 0.510 (P < 0.01). CONCLUSION: Inbreeding increases the risk of disability which is unevenly distributed, varying considerably even in neighboring communities with similar Human Development Index and population density. Higher inbreeding communities are mostly located on the more economically underdeveloped backlands than on the coastal region. The identification of communities at high risk for genetic disorders could serve as basis for the establishment of Community Genetics programs.
Authors: Silvana Santos; Anne Aluska da Silva Pequeno; André Pessoa; Claudia Regina Cabral Galvão; Jovany Luiz Alves de Medeiros; Weller Mathias; Fernando Kok Journal: J Community Genet Date: 2013-11-26
Authors: Uirá S Melo; Silvana Santos; Hannalice G Cavalcanti; Wagner T Andrade; Vitor G Dantas; Marine Rd Rosa; Regina C Mingroni-Netto Journal: Int J Mol Epidemiol Genet Date: 2014-02-17
Authors: Leandro U Alves; Silvana Santos; Camila M Musso; Suzana Am Ezquina; John M Opitz; Fernando Kok; Paulo A Otto; Regina C Mingroni-Netto Journal: J Hum Genet Date: 2017-08-31 Impact factor: 3.172
Authors: Alberto Fernández-Jaén; Sara Álvarez; Eui Young So; Toru Ouchi; Mar Jiménez de la Peña; Anna Duat; Daniel Martín Fernández-Mayoralas; Ana Laura Fernández-Perrone; Jacobo Albert; Beatriz Calleja-Pérez Journal: Eur J Paediatr Neurol Date: 2016-02-21 Impact factor: 3.140
Authors: Á D Rossi; F R Faucz; A Melo; P Pezzuto; G S de Azevedo; B L F Schamber-Reis; J S Tavares; J J Mattapallil; A Tanuri; R S Aguiar; C C Cardoso; C A Stratakis Journal: J Intern Med Date: 2018-09-17 Impact factor: 8.989
Authors: Renata Santos; Fred H Gage; Mayana Zatz; Thalita Figueiredo; Ana P D Mendes; Danielle P Moreira; Ernesto Goulart; Danyllo Oliveira; Gerson S Kobayashi; Shani Stern; Fernando Kok; Maria C Marchetto Journal: Mol Psychiatry Date: 2020-08-24 Impact factor: 15.992