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CCDC22 gene polymorphism is associated with advanced stages of endometriosis in a sample of Brazilian women

  • Genetics
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Abstract

Purpose

Based on the assumption that genetic factors are involved in the etiology of endometriosis, this study aimed to investigate the possibility of rs498679 (TLR4 gene), rs1799964 (TNF-α gene), rs3024496 (IL-10 gene), and rs2294021 (CCDC22 gene) polymorphisms being associated with the occurrence of this disease in a sample of Brazilian women.

Methods

We conducted a case-control study with 100 women with histological confirmation of endometriosis (endometriosis group) and 100 women submitted to laparoscopy for benign disorders, in which the absence of endometriosis was confirmed (control group). All samples were genotyped by real-time PCR technique for rs498679, rs1799964, rs3024496, and rs2294021 polymorphisms.

Results

No significant difference was observed in genotypic or allelic frequencies between control and endometriosis groups for rs498679 (TLR4 gene), rs1799964 (TNF-α gene), rs3024496 (IL-10 gene), neither when comparing endometriosis subgroups (I–II versus III-IV). On the other hand, significant difference between stages I–II and III–IV of the disease was found in genotypic and allelic frequencies for the rs2294021 (CCDC22 gene) SNP (p = 0.048 and p = 0.017, respectively).

Conclusion

Our results suggest that the rs2294021 (CCDC22 gene) polymorphism could be associated with increased susceptibility to endometriosis in Brazilian women when the allele C is present. In order to clarify this result, further studies should be conducted on a larger population.

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Acknowledgments

This study was supported by FAPESP (Fundação de Amparo à Pesquisa do Estado de São Paulo) and Laboratório de Investigação Médica (LIM-40).

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Authors and Affiliations

  1. Department of Legal Medicine, Ethics and Occupational Health, Medical School, University of São Paulo, Rua Teodoro Sampaio, n°115, Cerqueira Cesar, Sao Paulo, SP, CEP: 05405-000, Brazil

    Daniela de Oliveira Francisco & Cintia Fridman

  2. Department of Obstetrics and Gynecology, Clinics Hospital, Medical School, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 155, 10th floor, Department of Gynecology, Cerqueira Cesar, Sao Paulo, SP, CEP: 05403-010, Brazil

    Marina de Paula Andres & Sergio Podgaec

  3. Jewish Teaching and Research Institute, Albert Einstein Hospital, Avenida Albert Einstein 627, Morumbi, Sao Paulo, SP, CEP: 05652-900, Brazil

    Bárbara Yasmim Gueuvoghlanian-Silva & Sergio Podgaec

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  1. Daniela de Oliveira Francisco
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  2. Marina de Paula Andres
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  3. Bárbara Yasmim Gueuvoghlanian-Silva
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Correspondence to Cintia Fridman.

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de Oliveira Francisco, D., de Paula Andres, M., Gueuvoghlanian-Silva, B.Y. et al. CCDC22 gene polymorphism is associated with advanced stages of endometriosis in a sample of Brazilian women. J Assist Reprod Genet 34, 939–944 (2017). https://doi.org/10.1007/s10815-017-0936-0

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  • DOI: https://doi.org/10.1007/s10815-017-0936-0

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