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W Liu Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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Y Wang Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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X Han Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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X Cai Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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Y Zhu Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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M Zhang Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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S Gong Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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J Li Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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L Ji Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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Objective

Type 1 diabetes (T1DM) is associated with a higher risk of premature death, but there are factors in certain patients with T1DM that protect them from complications and premature death. These factors had not been identified in non-Caucasian populations, so we aimed to identify factors that protect against the development of diabetic nephropathy (DN) and diabetic retinopathy (DR) in long-standing T1DM in China.

Methods

Ninety-five T1DM patients with >30 years’ duration of diabetes were enrolled in this nationwide study. Differences between groups of patients with and without complications were compared, and multivariable regression analysis was used to evaluate the relationships between candidate protective factors and the development of DN or DR.

Results

Thirty of the participants did not have DN and the same amount did not have DR. 6/52 of participants without DN were from a rural area, whereas 11/28 of participants with DN had been born in a rural area (P = 0.005). Systolic blood pressure (SBP) was higher in participants with DN (135 ± 26 mmHg vs 121 ± 13 mmHg; P = 0.002). In participants without DR, 27/30 were married or cohabitating, and only 3/30 were single, never married, or widowed, but for those with proliferative DR (PDR), 13/26 had been married (P = 0.003). A rural or urban origin and SBP were associated with DN in the multivariable analysis.

Conclusion

we have shown that higher socioeconomic status, indicated by birth in an urban area, and being married or cohabitating, are accompanied by better blood pressure control and a lower risk of microvascular complications in Chinese patients with long-standing T1DM. These findings illustrate the importance of improving care for patients with T1DM in China.

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Rui M B Maciel Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Cleber P Camacho Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Lígia V M Assumpção Faculdade de Ciências Médicas, Universidade de Campinas, Campinas, São Paulo, Brazil

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Natassia E Bufalo Faculdade de Ciências Médicas, Universidade de Campinas, Campinas, São Paulo, Brazil

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André L Carvalho Hospital de Câncer de Barretos, Barretos, São Paulo, Brazil

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Gisah A de Carvalho Faculdade de Medicina, Universidade Federal do Paraná, Curitiba, Paraná, Brazil

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Luciana A Castroneves Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
Instituto do Câncer do Estado de São Paulo, São Paulo, São Paulo, Brazil

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Francisco M de Castro Jr Universidade Federal do Ceará, Fortaleza, Ceará, Brazil

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Lucieli Ceolin Hospital de Clínicas de Porto Alegre and Faculdade de Medicina da Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil

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Janete M Cerutti Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Rossana Corbo Instituto Nacional do Câncer, Rio de Janeiro, Rio de Janeiro, Brazil

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Tânia M B L Ferraz Hospital Geral de Fortaleza, Fortaleza, Ceará, Brazil

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Carla V Ferreira Hospital de Clínicas de Porto Alegre and Faculdade de Medicina da Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil

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M Inez C França Universidade Federal do Espírito Santo, Vitória, Espírito Santo, Brazil
Hospital Santa Rita de Cássia, Vitória, Espírito Santo, Brazil

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Henrique C R Galvão Hospital de Câncer de Barretos, Barretos, São Paulo, Brazil

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Fausto Germano-Neto Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Hans Graf Faculdade de Medicina, Universidade Federal do Paraná, Curitiba, Paraná, Brazil

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Alexander A L Jorge Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Ilda S Kunii Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Márcio W Lauria Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil

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Vera L G Leal Instituto Estadual de Diabetes e Endocrinologia, Rio de Janeiro, Rio de Janeiro, Brazil

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Susan C Lindsey Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Delmar M Lourenço Jr Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
Instituto do Câncer do Estado de São Paulo, São Paulo, São Paulo, Brazil

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Léa M Z Maciel Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, São Paulo, Brazil

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Patrícia K R Magalhães Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, São Paulo, Brazil

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João R M Martins Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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M Cecília Martins-Costa Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil
Hospital Geral de Fortaleza, Fortaleza, Ceará, Brazil
Universidade de Fortaleza, Fortaleza, Ceará, Brazil

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Gláucia M F S Mazeto Faculdade de Medicina de Botucatu, Universidade Estadual Paulista, Botucatu, São Paulo, Brazil

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Anelise I Impellizzeri Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil

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Célia R Nogueira Faculdade de Medicina de Botucatu, Universidade Estadual Paulista, Botucatu, São Paulo, Brazil

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Edenir I Palmero Hospital de Câncer de Barretos, Barretos, São Paulo, Brazil
Faculdade de Ciências da Saúde de Barretos Dr. Paulo Prata, Barretos, São Paulo, Brazil

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Cencita H C N Pessoa Instituto Nacional do Câncer, Rio de Janeiro, Rio de Janeiro, Brazil

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Bibiana Prada Faculdade de Medicina de Botucatu, Universidade Estadual Paulista, Botucatu, São Paulo, Brazil

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Débora R Siqueira Hospital de Clínicas de Porto Alegre and Faculdade de Medicina da Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil

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Maria Sharmila A Sousa Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil
Escola Fiocruz de Governo, Fundação Oswaldo Cruz and Ministério da Saúde, Brasília, Distrito Federal, Brazil

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Rodrigo A Toledo Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
Vall d’Hebron Institute of Oncology (VHIO), CIBERONC, Barcelona, Spain

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Flávia O F Valente Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Fernanda Vaisman Instituto Nacional do Câncer, Rio de Janeiro, Rio de Janeiro, Brazil

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Laura S Ward Faculdade de Ciências Médicas, Universidade de Campinas, Campinas, São Paulo, Brazil

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Shana S Weber Hospital de Clínicas de Porto Alegre and Faculdade de Medicina da Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil

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Rita V Weiss Instituto Estadual de Diabetes e Endocrinologia, Rio de Janeiro, Rio de Janeiro, Brazil

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Ji H Yang Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Magnus R Dias-da-Silva Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil

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Ana O Hoff Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
Instituto do Câncer do Estado de São Paulo, São Paulo, São Paulo, Brazil

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Sergio P A Toledo Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil
Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Ana L Maia Hospital de Clínicas de Porto Alegre and Faculdade de Medicina da Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil

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Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumors. Several reports have demonstrated that the RET mutation profile may vary according to the geographical area. In this study, we collected clinical and molecular data from 554 patients with surgically confirmed MTC from 176 families with MEN2 in 18 different Brazilian centers to compare the type and prevalence of RET mutations with those from other countries. The most frequent mutations, classified by the number of families affected, occur in codon 634, exon 11 (76 families), followed by codon 918, exon 16 (34 families: 26 with M918T and 8 with M918V) and codon 804, exon 14 (22 families: 15 with V804M and 7 with V804L). When compared with other major published series from Europe, there are several similarities and some differences. While the mutations in codons C618, C620, C630, E768 and S891 present a similar prevalence, some mutations have a lower prevalence in Brazil, and others are found mainly in Brazil (G533C and M918V). These results reflect the singular proportion of European, Amerindian and African ancestries in the Brazilian mosaic genome.

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