Are CYP1A1, CYP17 and CYP1B1 mutation genes involved on girls with precocious puberty? A pilot study

Are CYP1A1, CYP17 and CYP1B1 mutation genes involved on girls with precocious puberty? A pilot study

Author Matsuzaki, Cezar Noboru Google Scholar
Soares Junior, Jose Maria Google Scholar
Damiani, Durval Google Scholar
Azevedo Neto, Raymundo Soares de Google Scholar
Carvalho, Katia Candido Google Scholar
Holanda, Felisbela Soares de Google Scholar
Stafuzza, Eline Maria Google Scholar
Macedo Almeida, Jose Alcione Google Scholar
Baracat, Edmund Chada Google Scholar
Institution Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Abstract Objectives: To investigate three genes associated with puberty timing in girls with central precocious puberty by evaluating the association between polymorphism in the gene sequence codifying the enzymes participating in steroidogenesis, CYP1A1, CYP17, and CYP1B1 and central precocious puberty.Study design: A total of 177 patients was included and divided into two groups: Case group with 73 girls diagnosed with central precocious puberty; Control group with 104 girls with puberty onset after 8 years of age who were followed at the Sector of Gynecology of Childhood and Adolescence, Division of Gynecology Clinic, HC-FMUSP. Polymorphism presence was assessed in the genes involved in estrogen metabolism (CYP1A1, CYP17, and CYP1B1) by the restriction fragment length polymorphism (RFLP) technique using DNA from peripheral blood.Results: No significant difference in the distribution of the CYP1A1 Mspl (p = 0.86) and CYP17 (p = 0.12) genotypes was detected between the two study groups. As for CYP1B1 Eco571, the mutated C/C genotype was found to be more frequent in the control group than in the case group (p = 0.03).Conclusion: Our data suggest the CYP1B1 Eco571 gene variant is associated with puberty timing. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
Keywords Genetic polymorphism
Precocious puberty
Language English
Date 2014-10-01
Published in European Journal of Obstetrics & Gynecology and Reproductive Biology. Amsterdam: Elsevier B.V., v. 181, p. 140-144, 2014.
ISSN 0301-2115 (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 140-144
Access rights Closed access
Type Article
Web of Science ID WOS:000343952000027

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