Association study of four key folliculogenesis genes in polycystic ovary syndrome

• Published in: BJOG : an international journal of obstetrics and gynaecology 2010-05, Vol.117 (6), p.756-760
• Main Authors: Sproul, K, Jones, MR, Mathur, R, Azziz, R, Goodarzi, MO
• Format: Article
• Language: English
• Subjects: Anti-Mullerian Hormone - genetics; Biological and medical sciences; Bone Morphogenetic Protein 15 - genetics; Female; Female genital diseases; Folliculogenesis; Genes; Genetic Predisposition to Disease - genetics; Growth Differentiation Factor 9 - genetics; Gynecology. Andrology. Obstetrics; Humans; Medical sciences; Non tumoral diseases; Polycystic ovary syndrome; Polycystic Ovary Syndrome - genetics; Polymorphism; Polymorphism, Single Nucleotide - genetics; Receptors, Peptide - genetics; Receptors, Transforming Growth Factor beta - genetics
• ISSN: 1470-0328; 1471-0528
• DOI: 10.1111/j.1471-0528.2010.02527.x

Please cite this paper as: Sproul K, Jones M, Mathur R, Azziz R, Goodarzi M. Association study of four key folliculogenesis genes in polycystic ovary syndrome. BJOG 2010; DOI: 10.1111/j.1471‐0528.2010.02527.x. Polycystic ovaries and impaired fertility are the result of abnormal folliculogenesis. Our objective was to determine the role of four candidate folliculogenesis genes in the development of polycystic ovary syndrome (PCOS). Women with and without PCOS (335 cases; 198 controls) were genotyped for single nucleotide polymorphisms in GDF9, BMP15, AMH, and AMHR2. Variants in these genes were not associated with PCOS. Certain GDF9 variants were associated with hirsutism scores and parity in PCOS patients. GDF9 may thus serve as a modifier gene. These results suggest that inherited defects in folliculogenesis are not major factors in the genetic susceptibility to PCOS.