BADERC-Zhijun Luo

Corrine Welt-Kolka, MD

The Genetics of Polycystic Ovary Syndrome

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in reproductive aged women. Its health threatening consequences include a very high rate of type 2 diabetes, impaired glucose tolerance and metabolic syndrome out of proportion to controls matched for body mass index. In addition, obesity and other cardiovascular risk factors are more prevalent in women with PCOS compared to controls. Twin studies and family studies suggest a genetic basis for this disorder, and the pattern of inheritance is consistent with that of a complex disease. We are using both linkage and genomewide association studies to examine the genetics of PCOS. With the genetic basis in hand, the phenotypes of PCOS can be mapped onto genotypes to further our understanding and improve treatment modalities in women with PCOS

References:

Welt CK, Taylor AE, Martin KA, Hall JE. Serum inhibin B in polycystic ovary syndrome: regulation by insulin and luteinizing hormone. J. Clin Endocrinol Metab.
Welt CK, Arason G, Gudmundsson JA etal. Defining constant versus variable phenotypic features of women with polycystic ovary syndrome using different ethnic groups and populations. J. Clin Endocrinol Metab 2006: 91:4361-4368.
Welt CK, Gudmundsson JA, Arason G etal. Characterizing discrete subsets of polycystic ovary syndrome as defined by the Rotterdam Criteria: The impact of weight on phenotype and metabolic features. J Clin Endocrinol Metab 2006; 91:4842-4848.
Welt CK, Schneyer AL, Heist K, Mantzoros CS. Leptin and soluble leptin receptor in follicular fluid. J Assist Reprod Genet 2003; 20(12):495-501.






			Corrine Welt-Kolka, MD The Genetics of Polycystic Ovary Syndrome Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in reproductive aged women. Its health threatening consequences include a very high rate of type 2 diabetes, impaired glucose tolerance and metabolic syndrome out of proportion to controls matched for body mass index. In addition, obesity and other cardiovascular risk factors are more prevalent in women with PCOS compared to controls. Twin studies and family studies suggest a genetic basis for this disorder, and the pattern of inheritance is consistent with that of a complex disease. We are using both linkage and genomewide association studies to examine the genetics of PCOS. With the genetic basis in hand, the phenotypes of PCOS can be mapped onto genotypes to further our understanding and improve treatment modalities in women with PCOS References: Welt CK, Taylor AE, Martin KA, Hall JE. Serum inhibin B in polycystic ovary syndrome: regulation by insulin and luteinizing hormone. J. Clin Endocrinol Metab. Welt CK, Arason G, Gudmundsson JA etal. Defining constant versus variable phenotypic features of women with polycystic ovary syndrome using different ethnic groups and populations. J. Clin Endocrinol Metab 2006: 91:4361-4368. Welt CK, Gudmundsson JA, Arason G etal. Characterizing discrete subsets of polycystic ovary syndrome as defined by the Rotterdam Criteria: The impact of weight on phenotype and metabolic features. J Clin Endocrinol Metab 2006; 91:4842-4848. Welt CK, Schneyer AL, Heist K, Mantzoros CS. Leptin and soluble leptin receptor in follicular fluid. J Assist Reprod Genet 2003; 20(12):495-501.