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Journal of Assisted Reproduction and Genetics

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01-07-2017 | Genetics

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

Authors: Daniela de Oliveira Francisco, Marina de Paula Andres, Bárbara Yasmim Gueuvoghlanian-Silva, Sergio Podgaec, Cintia Fridman

Published in: Journal of Assisted Reproduction and Genetics | Issue 7/2017

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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Title: CCDC22 gene polymorphism is associated with advanced stages of endometriosis in a sample of Brazilian women
Authors: Daniela de Oliveira Francisco
Marina de Paula Andres
Bárbara Yasmim Gueuvoghlanian-Silva
Sergio Podgaec
Cintia Fridman
Publication date: 01-07-2017
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 7/2017
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-017-0936-0

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

Abstract

Purpose

Methods

Results

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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