title: Variants in follicle-stimulating hormone receptor gene in infertile Brazilian men and the correlation to FSH serum levels and sperm count.
abstract: The aim of the study was to analyze the distribution of the follicle-stimulating hormone (FSH) receptor (FSHR) Ala307Thr and Asn680Ser polymorphisms in infertile Brazilian men and evaluate the possible role of these polymorphisms on the serum levels of FSH and in sperm count. A case-control study was performed comprising138 infertile men with nonobstructive azoospermia (n = 53) or severe oligozoospermia (n = 85), and 217 fertile men as controls. Genotyping of FSHR polymorphisms was performed by real-time polymerase chain reaction (PCR). The results were analyzed statistically and a P value <.05 was considered significant. According to the sperm count, relatively similar FSHR polymorphisms genotype and allele frequencies were found among the groups, and combined genotypes of 2 polymorphisms did not identify a haplotype associated with sperm count. Considering FSH serum level according to genotypes of the Ala307Thr and Asn680Ser polymorphisms individually, statistical analysis showed no difference among the groups. When the combined genotypes of the FSHR polymorphisms were compared to FSH serum levels, no difference was also found among the groups. In conclusion, the findings demonstrate that, in Brazilian population studied, genetic variations, Asn680Ser and Thr307Ala, of the FSHR gene are not correlated with serum FSH levels or sperm count in male infertility.
authors.affiliation: Division of Human Reproduction and Genetics, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC - Santo André/SP-Brazil.
authors.forename: Milton
authors.initials: M
authors.lastname: Ghirelli-Filho
authors.forename: Carla
authors.initials: C
authors.lastname: Peluso
authors.forename: Denise M
authors.initials: DM
authors.lastname: Christofolini
authors.forename: Marcello M
authors.initials: MM
authors.lastname: Gava
authors.forename: Sidney
authors.initials: S
authors.lastname: Glina
authors.forename: Caio P
authors.initials: CP
authors.lastname: Barbosa
authors.forename: Bianca
authors.initials: B
authors.lastname: Bianco
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D053713:Azoospermia / Q000097:blood / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D001938:Brazil; D016022:Case-Control Studies; D043373:Follicle Stimulating Hormone, Human / Q000097:blood*; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009845:Oligospermia / Q000097:blood / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide; D011962:Receptors, FSH / Q000235:genetics* / Q000378:metabolism; D012720:Severity of Illness Index; D013076:Sperm Count
chemical_list: D043373:Follicle Stimulating Hormone, Human; D011962:Receptors, FSH