Are FSHR polymorphisms risk factors to premature ovarian insufficiency?
Premature ovarian insufficiency (POI) is an ovarian dysfunction characterized by increased FSH levels and amenorrhea before 40 years old. In recent years, the search for genetic causes of POI intensified and studies have been published relating the presence of mutations and polymorphisms in genes associated with development, recruitment and oocyte atresia. The aim of this study was to evaluate the presence of FSHR polymorphisms in our population and contribute with the elucidation of POI etiology. To achieve it, we have studied 100 patients with POI (G1), 60 patients with border line levels of FSH (G2) and 123 controls with regular menopause onset. Cytogenetic analysis of patients' samples and genotyping of Asn680Ser and Ala307Thr polymorphisms were performed in cases and controls. Cytogenetic analysis showed that 92% of G1 patients had normal karyotype, 4% presented polymorphic variants, 3% presented mosaic karyotype involving X chromosome. In G2, 91.6% had normal karyotype results, 3.2% displayed polymorphic variants, and 3.3% presented a mosaic karyotype involving X chromosome. Statistical comparison showed that the polymorphic allele of Ala307Thr polymorphism is more frequent in patients than in controls (G1: p < 0.001 and G2: p = 0.0259). This association has not been previously reported. We concluded that Ala307Thr polymorphism in FSHR can be potentially associated to POI development and can be considered as a screening marker in patients with ovarian failure signals.
a Department of Collective Health, Faculdade de Medicina do ABC, Discipline of Reproductive Health and Populational Genetics , Instituto Ideia Fertil, Center of Human Reproduction and Genetics , Santo André , SP , Brazil.
Emerson Barchi
EB
Cordts
a Department of Collective Health, Faculdade de Medicina do ABC, Discipline of Reproductive Health and Populational Genetics , Instituto Ideia Fertil, Center of Human Reproduction and Genetics , Santo André , SP , Brazil.
Monise Castro
MC
Santos
a Department of Collective Health, Faculdade de Medicina do ABC, Discipline of Reproductive Health and Populational Genetics , Instituto Ideia Fertil, Center of Human Reproduction and Genetics , Santo André , SP , Brazil.
Bianca
B
Bianco
a Department of Collective Health, Faculdade de Medicina do ABC, Discipline of Reproductive Health and Populational Genetics , Instituto Ideia Fertil, Center of Human Reproduction and Genetics , Santo André , SP , Brazil.
Caio Parente
CP
Barbosa
a Department of Collective Health, Faculdade de Medicina do ABC, Discipline of Reproductive Health and Populational Genetics , Instituto Ideia Fertil, Center of Human Reproduction and Genetics , Santo André , SP , Brazil.
Denise Maria
DM
Christofolini
D000328:Adult; D000483:Alleles; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008594:Menopause, Premature / Q000097:blood / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000235:genetics*; D011962:Receptors, FSH / Q000235:genetics*; D012307:Risk Factors; D055815:Young Adult
D011962:Receptors, FSH; D005640:Follicle Stimulating Hormone
FSHR; Follicle stimulating hormone; X chromosome; infertility; premature ovarian insufficiency