Investigation of FOXL2 gene variants and its relation to premature ovarian insufficiency

• Grant number: 18/23263-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Effective date (Start): May 01, 2019
• Effective date (End): April 30, 2020
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Denise Maria Christofolini
• Grantee: Felipe Heurre de Carvalho Santos Vieira Neto
• Host Institution: Centro Universitário Saúde ABC. Fundação do ABC. Santo André , SP, Brazil

Abstract

Premature ovarian failure (IOP) is defined as worsening or cession of ovarian function, resulting in early menopause before 40 years of age. The incidence of IOP in the general population is 1% and corresponds to 6 to 10% of the causes of amenorrhea, affects 1: 1000 women up to 30 years of age, 1: 250 until 35 years and 1: 100 at 40 years. 5% of diagnosed cases have a family history. Its etiology may involve autoimmune disorders, enzymatic deficiencies, chromosomal alterations, genetic alterations, among others. The FOXL2 gene regulates TGF²-related signaling pathways involved in ovarian function, and is necessary for the function of granulosa cells, which play an important role in the formation and activation of follicles. Although its molecular mechanism is still unclear, studies indicate that variations in this gene may be related to IOP. The present study aims to investigate these variants of the FOXL2 gene and its relation with IOP in women who will be selected for the study. A genetic sequencing will be performed in search of these variants. The results will be compared to a reference database such as dbSNP and articles from the medical literature.