References
- Knochenhauer ES, Key TJ, Kahsar-Miller M, Waggoner W, Boots LR, Azziz R. Prevalence of the polycystic ovary syndrome in unselected black and white women of the southeastern United States: a prospective study. J Clin Endocrinol Metab 1998; 83: 3078-82 https://doi.org/10.1210/jc.83.9.3078
- Asuncion M, Calvo RM, San Millan JL, Sancho J, Avila S, Escobar-Morreale HF. A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain. J Clin Endocrinol Metab 2000; 85: 2434 -8 https://doi.org/10.1210/jc.85.7.2434
- Barbieri RL, Makris A, Randall RW, Daniels G, Kistner RW, Ryan KJ. Insulin stimulates androgen accumulation in incubations of ovarian stroma obtained from women with hyperandrogenism. J Clin Endocrinol Metab 1986; 62: 904-10 https://doi.org/10.1210/jcem-62-5-904
- Nestler JE, Powers LP, Matt DW, Steingold KA, Plymate SR, Rittmaster RS, et al. A direct effect of hyperinsulinemia on serum sex hormone-binding globulin levels in obese women with the polycystic ovary syndrome. J Clin Endocrinol Metab 1991; 72: 83-9 https://doi.org/10.1210/jcem-72-1-83
- Nestler JE, Jakubowicz DJ, de Vargas AF, Brik C, Quintero N, Medina F. Insulin stimulates testosterone biosynthesis by human thecal cells from women with polycystic ovary syndrome by activating its own receptor and using inositolglycan mediators as the signal transduction system. J Clin Endocrinol Metab 1998; 83: 2001-5
- Zawadski JK, Dunaif A. Diagnostic criteria for polycystic ovary syndrome: In Polycystic ovary syndrome Dunaif A, Givens JR, Haseltime F, et al., editors. Boston (MA):Blackwell, 1992: 377-84
- Balen AH, Laven JS, Tan SL, Dewailly D. Ultrasound assessment of the polycystic ovary: international consensus definitions. Human Reprod Update 2003; 9: 505-14 https://doi.org/10.1093/humupd/dmg044
- Vink JM, Sadrzadeh S, Lambalk CB, Boomsma DI. Heritability of polycystic ovary syndrome in a Dutch twin-family study. J Clin Endocrinol Metab 2006; 91: 2100-4 https://doi.org/10.1210/jc.2005-1494
- Yildiz BO, Yarali H, Oguz H, Bayraktar M. Glucose intolerance, insulin resistance, and hyperandrogenemia in first degree relatives of women with polycystic ovary syndrome. J Clin Endocrinol Metab 2003; 88: 2031-6 https://doi.org/10.1210/jc.2002-021499
- Kaushal R, Parchure N, Bano G, Kaski JC, Nussey SS. Insulin resistance and endothelial dysfunction in the brothers of Indian subcontinent Asian women with polycystic ovaries. Clin Endocrinol 2004; 60: 322-8 https://doi.org/10.1111/j.1365-2265.2004.01981.x
- Leibel NI, Baumann EE, Kocherginsky M, Rosenfield RL. Relationship of adolescent polycystic ovary syndrome to parental metabolic syndrome. J Clin Endocrinol Metab 2006;91: 1275-83 https://doi.org/10.1210/jc.2005-1707
- Cooper DN, Clayton JF. DNA polymorphism and the study of disease associations. Hum Genet 1988; 78: 299-312 https://doi.org/10.1007/BF00291724
- Ferriman D, Purdie AW. The inheritance of polycystic ovarian disease and a possible relationship to premature balding. Clin Endocrinol 1979; 11: 291-300 https://doi.org/10.1111/j.1365-2265.1979.tb03077.x
- Lunde O, Magnus P, Sandvik L, Hoglo S. Familial clustering in the polycystic ovarian syndrome. Gynecol Obstet Invest 1989; 28: 23-30 https://doi.org/10.1159/000293493
- Hague WM, Adams J, Reeders ST, Peto TE, Jacobs HS. Familial polycystic ovaries: a genetic disease? Clin Endocrinol 1988; 29: 593-605 https://doi.org/10.1111/j.1365-2265.1988.tb03707.x
- Carey AH, Chan KL, Short F, White D, Williamson R, Franks S. Evidence for a single gene effect in polycystic ovaries an male pattern baldness. Clin Endocrinol 1993; 38: 653-8 https://doi.org/10.1111/j.1365-2265.1993.tb02150.x
- Norman RJ, Masters S, Hague W. Hyperinsulinemia is common in family members of women with polycystic ovary syndrome. Fertil Steril 1996; 66: 942-7
- Govind A, Obhrai MS, Clayton RN. Polycystic ovaries are inherited as an autosomal dominant trait: analysis of 29 polycystic ovary syndrome and 10 control families. J Clin Endocrinol Metab 1999; 84: 38-43 https://doi.org/10.1210/jc.84.1.38
- Legro RS, Driscoll D, Strauss JF 3rd, Fox J, Dunaif A. Evidence for a genetic basis for hyperadrogenemia in polycystic ovary syndrome. Proc Natl Acad Sci U S A 1998; 95:14956-60 https://doi.org/10.1073/pnas.95.25.14956
- Kahsar-Miller MD, Nixon C, Boots LR, Go RC, Azziz R. Prevalence of polycystic ovary syndrome (PCOS) in firstdegree relatives of patients with PCOS. Fertil Steril 2001;75: 53-8 https://doi.org/10.1016/S0015-0282(00)01662-9
- Givens JR. Familial polycystic ovarian disease. Endocrinol Metab Clin North Am 1988; 17: 771-83
- Roldan B, San Millan JL, Escobar-Morreale HF. Genetic basis of metabolic abnormalities in polycystic ovary syndrome:implications for therapy. Am J Pharmacogenomics 2004; 4: 93-107 https://doi.org/10.2165/00129785-200404020-00004
- Simoni M, Tempfer CB, Destenaves B, Fauser BC. Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. Hum Reprod Update 2008; 14: 459-84 https://doi.org/10.1093/humupd/dmn024
- Misfud A, Ramirez S, Yong EL. Androgen receptor gene CAG trinucleotide repeats in anovulatory infertility and polycystic ovaries. J Clin Endocrinol Metab 2000; 85: 3484-8 https://doi.org/10.1210/jc.85.9.3484
- Jaaskelainen J, Korhonen S, Voutilainen R, Hippeläinen M, Heinonen S. Androgen receptor gene CAG length polymor phism in women with polycystic ovary syndrome. Fertil Steril 2005; 83: 1724-8 https://doi.org/10.1016/j.fertnstert.2004.11.080
- Shah NA, Antoine HJ, Pall M, Taylor KD, Azziz R, Goodarzi MO. Association of Androgen Receptor CAG Repeat Polymorphism and Polycystic Ovary Syndrome. J Clin Endocrinol Metab 2008; 93: 1939-45 https://doi.org/10.1210/jc.2008-0038
- Xita N, Georgiou I, Lazaros L, Psofaki V, Kolios G, Tsatsoulis A. The role of sex hormone-binding globulin and androgen receptor gene variants in the development of polycystic ovary syndrome. Hum Reprod 2008; 23: 693-8 https://doi.org/10.1093/humrep/dem382
- Ferk P, Perme MP, Teran N, Gersak K. Androgen receptor gene (CAG)n polymorphism in patients with polycystic ovary syndrome. Fertil Steril 2008; 90: 860-3 https://doi.org/10.1016/j.fertnstert.2007.07.1291
- Liu Q, Hong J, Cui B, Zhang Y, Gu W, Chi Z. Androgen receptor gene CAGn trinucleotide repeats polymorphism in Chinese women with polycystic ovary syndrome. Endocr 2008; 33: 165-70 https://doi.org/10.1007/s12020-008-9069-7
- Kim JJ, Choung SH, Choi YM, Yoon SH, SH Kim, Moon SY. Androgen receptor gene CAG repeat polymorphism in women with polycystic ovary syndrome. Fertil Steril 2008;90: 2318-23 https://doi.org/10.1016/j.fertnstert.2007.10.030
- Hickey T, Chandy A, Norman RJ. The androgen receptor CAG repeat polymorphism and X-chromosome inactivation in Australian Caucasian women with infertility related to polycystic ovary syndrome. J Clin Endocrinol Metab 2002;87: 161-5 https://doi.org/10.1210/jc.87.1.161
- Mohlig M, Jurgens A, Spranger J, Hoffmann K, Weickert MO, Schlosser HW, et al. The androgen receptor CAG repeat modifies the impact of testosterone on insulin resistance in women with polycystic ovary syndrome. Eur J Endocrinol 2006; 155: 127-30 https://doi.org/10.1530/eje.1.02195
- Xita N, Tsatsoulis A, Chatzikyriakidou A, Georgiou I. Association of the (TAAAA)n repeat polymorphism in the sex hormone-binding globulin (SHBG) gene with polycystic ovary syndrome and relation to SHBG serum levels. J Clin Endocrinol Metab 2003; 88: 5976-80 https://doi.org/10.1210/jc.2003-030197
- Cousin P, Calemard-Michel L, Lejeune H, Raverot G, Yessaad N, Emptoz-Bonneton A, et al. Influence of SHBG gene pentanucleotide TAAAA repeat and D327N polymorphism on serum sex hormone- binding globulin concentration in hirsute women. J Clin Endocrinol Metab 2004; 89: 917-24 https://doi.org/10.1210/jc.2002-021553
- Urbanek M, Legro RS, Driscoll DA, Azziz R, Ehrmann DA, Norman RJ, et al. Thirty-seven candidate genes for polycystic ovary syndrome: strongest evidence for linkage is with follistatin, Proceedings of the National Academy of Sciences of the United States of America 1999; 96: 8573-8 https://doi.org/10.1073/pnas.96.15.8573
- Ferk P, Teran N, Gersak K. The (TAAAA)n microsatellite polymorphism in the SHBG gene influences serum SHBG levels in women with polycystic ovary syndrome. Hum Reprod 2007; 22: 1031-6 https://doi.org/10.1093/humrep/del457
- Franks S, Gharani N, Waterworth D, et al. The genetic basis of polycystic ovary syndrome. Hum Reprod 1997; 12: 2641-8 https://doi.org/10.1093/humrep/12.12.2641
- Gharani N, Waterworth DM, Batty S, White D, Gilling-Smith C, Conway GS, et al. Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism. Hum Mol Genet 1997; 6: 397-402 https://doi.org/10.1093/hmg/6.3.397
- Diamanti-Kandarakis E, Bartzis MI, Bergiele AT, Tsianateli TC, Kouli CR. Microsatellite polymorphism (tttta)(n) at -528 base pairs of gene CYP11alpha influences hyperandrogenemia in patients with polycystic ovary syndrome. Fertil Steril 2000; 73: 735-41 https://doi.org/10.1016/S0015-0282(99)00628-7
- Waterworth DM, Bennett ST, Gharani N, McCarthy MI, Hague S, Batty S, et al. Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome. Lancet 1997; 349: 986-90 https://doi.org/10.1016/S0140-6736(96)08368-7
- San Millan JL, Sancho J, Calvo RM, Escobar-Morreale HF. Role of the pentanucleotide (tttta)(n) polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism. Fertil Steril 2001; 75: 797-802 https://doi.org/10.1016/S0015-0282(01)01677-6
- Gaasenbeek M, Powell BL, Sovio U, Haddad L, Gharani N, Bennett A, et al. Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone. J Clin Endocrinol Metab 2004; 89: 2408-13 https://doi.org/10.1210/jc.2003-031640
- Wang Y, Wu X, Cao Y, Yi L, Chen J. A microsatellite polymorphism (tttta)n in the promoter of the CYP11a gene in Chinese women with polycystic ovary syndrome. Fertil Steril 2006; 86: 223-6 https://doi.org/10.1016/j.fertnstert.2005.12.037
- Pusalkar M, Meherji P, Gokral J, Chinnaraj S, Maitra A. CYP11A1 and CYP17 promoter polymorphisms associate with hyperandrogenemia in polycystic ovary syndrome. Fertil Steril 2008 Aug 23 [Epub ahead of print]
- Kim JJ, Choi YM, Yoon SH, Choung SH, Choi DS, Ku SY, et al. CYP11alpha (tttta)n Microsatellite Polymorphism in Korean Patients with Polycystic Ovary Syndrome. Korean J Fertil Steril 2004; 31: 245-52
- Techatraisak K, Conway GS, Rumsby G. Frequency of a polymorphism in the regulatory region of the 17 alphahydroxylase-17,20-lyase (CYP17) gene in hyperandrogenic states. Clin Endocrinol (Oxf) 1997; 46: 131-4 https://doi.org/10.1046/j.1365-2265.1997.8700880.x
- Diamanti-Kandarakis E, Bartzis MI, Zapanti ED, Spina GG, Filandra FA, Tsianateli TC, et al. Polymorphism T-->C (-34 bp) of gene CYP17 promoter in Greek patients with polycystic ovary syndrome. Fertil Steril 1999; 71: 431-5 https://doi.org/10.1016/S0015-0282(98)00512-3
- Marszalek B, Lacinski M, Babych N, Capla E, Biernacka- Lukanty J, Warenik-Szymankiewicz A, et al. Investigations on the genetic polymorphism in the region of CYP17 gene encoding 5'-UTR in patients with polycystic ovarian syndrome. Gynecol Endocrinol 2001; 15: 123-8
- Kahsar-Miller M, Boots LR, Bartolucci A, Azziz R. Role of a CYP17 polymorphism in the regulation of circulating dehydroepiandrosterone sulfate levels in women with polycystic ovary syndrome. Fertil Steril 2004; 82: 973-5 https://doi.org/10.1016/j.fertnstert.2004.05.068
- Echiburu B, Perez-Bravo F, Maliqueo M, Sanchez F, Crisosto N, Sir-Petermann T. Polymorphism T --> C (-34 base pairs) of gene CYP17 promoter in women with polycystic ovary syndrome is associated with increased body weight and insulin resistance: a preliminary study. Metabolism 2008; 57:1765-71 https://doi.org/10.1016/j.metabol.2008.08.002
- Park JM, Lee EJ, Ramakrishna S, Cha DH, Baek KH. Association study for single nucleotide polymorphisms in the CYP17A1 gene and polycystic ovary syndrome. Int J Mol Med 2008; 22: 249-54
- Petry CJ, Ong KK, Michelmore KF, Artigas S, Wingate DL, Balen AH, et al. Association of aromatase (CYP 19) gene variation with features of hyperandrogenism in two populations of young women. Hum Reprod 2005; 20: 1837-43 https://doi.org/10.1093/humrep/deh900
- Xita N, Georgiou I, Lazaros L, Psofaki V, Kolios G, Tsatsoulis A. The synergistic effect of sex hormone-binding globulin and aromatase genes on polycystic ovary syndrome phenotype. Eur J Endocrinol 2008; 158: 861-5 https://doi.org/10.1530/EJE-07-0905
- Tilg H, Moschen AR. Adipocytokines: mediators linking adipose tissue, inflammation and immunity. Nat Rev Immunol 2006; 6: 772-83 https://doi.org/10.1038/nri1937
- Haap M, Machicao F, Stefan N, Thamer C, Tschritter O, Schnuck F, et al. Genetic determinants of insulin action in polycystic ovary syndrome. Exp Clin Endocrinol Diabetes 2005; 113: 275-81 https://doi.org/10.1055/s-2005-837665
- Heinonen S, Korhonen S, Helisalmi S, Koivunen R, Tapanainen J, Hippelainen M, et al. Associations between two single nucleotide polymorphisms in the adiponectin gene and polycystic ovary syndrome. Gynecol Endocrinol 2005; 21: 165-9 https://doi.org/10.1080/09513590500238796
- Zhang N, Shi YH, Hao CF, Gu HF, Li Y, Zhao YR, et al. Association of +45G15G(T/G) and +276(G/T) polymorphisms in the ADIPOQ gene with polycystic ovary syndrome among Han Chinese women. Eur J Endocrinol 2008; 158:255-60 https://doi.org/10.1530/EJE-07-0576
- Panidis D, Kourtis A, Kukuvitis A, Farmakiotis D, Xita N, Georgiou I, et al. Association of the T45G polymorphism in exon 2 of the adiponectin gene with polycystic ovary syndrome: role of Delta4-androstenedione. Hum Reprod 2004; 19: 1728-33 https://doi.org/10.1093/humrep/deh336
- San Millan JL, Corton M, Villuendas G, Sancho J, Peral B, Escobar-Morreale HF. Association of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity. J Clin Endocrinol Metab 2004; 89: 2640-6 https://doi.org/10.1210/jc.2003-031252
- Xita N, Georgiou I, Chatzikyriakidou A, Vounatsou M, Papassotiriou GP, Papassotiriou I, et al. Effect of adiponectin gene polymorphisms on circulating adiponectin and insulin resistance indexes in women with polycystic ovary syndrome. Clin Chem 2005; 51: 416-23 https://doi.org/10.1373/clinchem.2004.043109
- Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet 2000; 26:163-75 https://doi.org/10.1038/79876
- Gonzalez A, Abril E, Roca A, Aragon MJ, Figueroa MJ, Velarde P, et al. Specific CAPN10 gene haplotypes influence the clinical profile of polycystic ovary patients. J Clin Endocrinol Metab 2003; 88: 5529-36 https://doi.org/10.1210/jc.2003-030322
- Ehrmann DA, Schwarz PE, Hara M, Tang X, Horikawa Y, Imperial J, et al. Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome. J Clin Endocrinol Metab 2002; 87: 1669-73 https://doi.org/10.1210/jc.87.4.1669
- Haddad L, Evans JC, Gharani N, Robertson C, Rush K, Wiltshire S, et al. Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. J Clin Endocrinol Metab 2002; 87: 2606-10 https://doi.org/10.1210/jc.87.6.2606
- Marquez JL, Pacheco A, Valdes P, Salazar LA. Association between CAPN10 UCSNP-43 gene polymorphism and polycystic ovary syndrome in Chilean women. Clin Chim Acta 200; 398: 5-9 https://doi.org/10.1016/j.cca.2008.07.028
- Escobar-Morreale HF, Peral B, Villuendas G, Calvo RM, Sancho J, San Millan JL. Common single nucleotide polymorphisms in intron 3 of the calpain-10 gene influence hirsutism. Fertil Steril 2002; 77: 581-7 https://doi.org/10.1016/S0015-0282(01)03206-X
- Lee JY, Lee WJ, Hur SE, Sung YA, Chung HW. 111/121 diplotype of Calpain-10 is associated with the risk of polycystic ovary syndrome in Korean women. Fertil Steril 2008 Aug 11[Epub ahead of print] https://doi.org/10.1016/j.fertnstert.2008.06.023
- Wiltgen D, Furtado L, Kohek MB, Spritzer PM. CAPN10 UCSNP-43, UCSNP-19 and UCSNP-63 polymorphisms and metabolic syndrome in polycystic ovary syndrome. Gynecol Endocrinol 2007; 23: 173-8 https://doi.org/10.1080/09513590701233661
- Vollmert C, Hahn S, Lamina C, Huth C, Kolz M, Schopfer-Wendels A, et al. Calpain-10 variants and haplotypes are associated with polycystic ovary syndrome in Caucasians. Am J Physiol Endocrinol Metab 2007; 292: E836-44 https://doi.org/10.1152/ajpendo.00584.2005
- Dunaif A. Insulin resistance and the polycystic ovary syndrome: mechanism and implications for pathogenesis. Endocr Rev 1997; 18: 774-800 https://doi.org/10.1210/er.18.6.774
- Azziz R. Polycystic ovary syndrome, insulin resistance, and molecular defects of insulin signaling. J Clin Endocrinol Metab 2002; 87: 4085-7 https://doi.org/10.1210/jc.2002-021131
- Krook A, Kumar S, Laing I, Boulton AJ, Wass JA, O'Rahilly S. Molecular scanning of the insulin receptor gene in syndromes of insulin resistance. Diabetes 1994; 43: 357-68 https://doi.org/10.2337/diabetes.43.3.357
- Siegel S, Futterweit W, Davies TF, Concepcion ES, Greenberg DA, Villanueva R, et al. A C/T single nucleotide polymorphism at the tyrosine kinase domain of the insulin receptor gene is associated with polycystic ovary syndrome. Fertil Steril 2002; 78: 1240-3 https://doi.org/10.1016/S0015-0282(02)04241-3
- Chen ZJ, Shi YH, Zhao YR, Li Y, Tang R, Zhao LX, et al. Correlation between single nucleotide polymorphism of insulin receptor gene with polycystic ovary syndrome. Zhonghua Fu Chan Ke Za Zhi 2004; 39: 582-5
- Lee EJ, Yoo KJ, Kim SJ, Lee SH, Cha KY, Baek KH. Single nucleotide polymorphism in exon 17 of the insulin receptor gene is not associated with polycystic ovary syndrome in a Korean population. Fertil Steril 2006; 86: 380-4 https://doi.org/10.1016/j.fertnstert.2005.12.073
- Jin L, Zhu XM, Luo Q, Qian Y, Jin F, Huang HF. A novel SNP at exon 17 of INSR is associated with decreased insulin sensitivity in Chinese women with PCOS. Mol Hum Reprod 2006; 12: 151-5 https://doi.org/10.1093/molehr/gal022
- Lee EJ, Oh B, Lee JY, Kimm K, Lee SH, Baek KH. A novel single nucleotide polymorphism of INSR gene for polycystic ovary syndrome. Fertil Steril 2008; 89: 1213-20 https://doi.org/10.1016/j.fertnstert.2007.05.026
- Sesti G, Federici M, Hribal ML, Lauro D, Sbraccia P, Lauro R. Defects of the insulin receptor substrate (IRS) system in human metabolic disorders. FASEB J 2001; 15: 2099-111 https://doi.org/10.1096/fj.01-0009rev
- Sir-Petermann T, Angel B, Maliqueo M, Santos JL, Riesco MV, Toloza H, et al. Insulin secretion in women who have polycystic ovary syndrome and carry the Gly972Arg variant of insulin receptor substrate-1 in response to a high-glycemic or low-glycemic carbohydrate load. Nutrition 2004; 20: 905-10 https://doi.org/10.1016/j.nut.2004.08.017
- Dilek S, Ertunc D, Tok EC, Erdal EM, Aktas A. Association of Gly972Arg variant of insulin receptor substrate-1 with metabolic features in women with polycystic ovary syndrome. Fertil Steril 2005; 84: 407-12 https://doi.org/10.1016/j.fertnstert.2005.01.133
- Baba T, Endo T, Sata F, Honnma H, Kitajima Y, Hayashi T, et al. Polycystic ovary syndrome is associated with genetic polymorphism in the insulin signaling gene IRS-1 but not ENPP1 in a Japanese population. Life Sci 2007; 16: 850-4 https://doi.org/10.1016/j.lfs.2007.07.023
- El Mkadem SA, Lautier C, Macari F, Molinari N, Lefebvre P, Renard E, et al. Role of allelic variants Gly972Arg of IRS-1 and Gly1057Asp of IRS-2 in moderate-to-severe insulin resistance of women with polycystic ovary syndrome. Diabetes 2001; 50: 2164-8 https://doi.org/10.2337/diabetes.50.9.2164
- Ehrmann DA, Tang X, Yoshiuchi I, Cox NJ, Bell GI. Relationship of insulin receptor substrate-1 and -2 genotypes to phenotypic features of polycystic ovary syndrome. J Clin Endocrinol Metab 2002; 87: 4297-300 https://doi.org/10.1210/jc.2002-020216
- Villuendas G, Botella-Carretero JI, Roldan B, Sancho J, Escobar-Morreale HF, et al. Polymorphisms in the insulin receptor substrate-1 (IRS-1) gene and the insulin receptor substrate-2 (IRS-2) gene influence glucose homeostasis and body mass index in women with polycystic ovary syndrome and non-hyperandrogenic controls. Hum Reprod 2005; 20:3184-91 https://doi.org/10.1093/humrep/dei205
- Valdes P, Cerda A, Barrenechea C, Kehr M, Soto C, Salazar LA. No association between common Gly972Arg variant of the insulin receptor substrate-1 and polycystic ovary syndrome in Southern Chilean women. Clin Chim Acta 2008; 390: 63-6 https://doi.org/10.1016/j.cca.2007.12.018
- Witchel SF, Kahsar-Miller M, Aston CE, White C, Azziz R. Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess. Fertil Steril 2005; 83: 371-5 https://doi.org/10.1016/j.fertnstert.2004.10.027
- Ertunc D, Tok EC, Aktas A, Erdal EM, Dilek S. The importance of IRS-1 Gly972Arg polymorphism in evaluating the response to metformin treatment in polycystic ovary syndrome. Hum Reprod 2005; 20: 1207-12 https://doi.org/10.1093/humrep/deh747
- Lehrke M, Lazar MA. The many faces of PPARgamma. Cell 2005; 123: 993-9 https://doi.org/10.1016/j.cell.2005.11.026
- Korhonen S, Heinonen S, Hiltunen M, Helisalmi S, Hippelainen M, Koivunen R, et al. Polymorphism in the peroxisome proliferator-activated receptor-gamma gene in women with polycystic ovary syndrome. Hum Reprod 2003;18: 540-3 https://doi.org/10.1093/humrep/deg128
- Orio F Jr, Palomba S, Cascella T, Di Biase S, Labella D, Russo T, et al. Lack of an association between peroxisome proliferator-activated receptor-gamma gene Pro12Ala polymorphism and adiponectin levels in the polycystic ovary syndrome. J Clin Endocrinol Metab 2004; 89: 5110-5 https://doi.org/10.1210/jc.2004-0109
- Wang Y, Wu X, Cao Y, Yi L, Fan H, Chen J. Polymorphisms of the peroxisome proliferator-activated receptor-gamma and its coactivator-1alpha genes in Chinese women with polycystic ovary syndrome. Fertil Steril 2006; 85: 1536-40 https://doi.org/10.1016/j.fertnstert.2005.10.047
- Antoine HJ, Pall M, Trader BC, Chen YD, Azziz R, Goodarzi MO. Genetic variants in peroxisome proliferator-activated receptor gamma influence insulin resistance and testosterone levels in normal women, but not those with polycystic ovary syndrome. Fertil Steril 2007; 87: 862-9 https://doi.org/10.1016/j.fertnstert.2006.10.006
- Hara M, Alcoser SY, Qaadir A, Beiswenger KK, Cox NJ, Ehrmann DA. Insulin resistance is attenuated in women with polycystic ovary syndrome with the Pro(12)Ala polymorphism in the PPARgamma gene. J Clin Endocrinol Metab 2002;87: 772-5 https://doi.org/10.1210/jc.87.2.772
- Hahn S, Fingerhut A, Khomtsiv U, Khomtsiv L, Tan S, Quadbeck B, et al. The peroxisome proliferator activated receptor gamma Pro12Ala polymorphism is associated with a lower hirsutism score and increased insulin sensitivity in women with polycystic ovary syndrome. Clin Endocrinol (Oxf) 2005; 62: 573-9 https://doi.org/10.1111/j.1365-2265.2005.02261.x
- Tok EC, Aktas A, Ertunc D, Erdal EM, Dilek S. Evaluation of glucose metabolism and reproductive hormones in polycystic ovary syndrome on the basis of peroxisome proliferatoractivated receptor (PPAR)-gamma2 Pro12Ala genotype. Hum Reprod 2005; 20: 1590-5 https://doi.org/10.1093/humrep/deh769
- Erdogan M, Karadeniz M, Berdeli A, Alper G, Caglayan O, Yilmaz C. The relationship of the interleukin-6 -174 G>C gene polymorphism with oxidative stress markers in Turkish polycystic ovary syndrome patients. J Endocrinol Invest 2008;31: 624-9
- Kamat BR, Brown LF, Manseau EJ, Senger DR, Dvorak HF. Expression of vascular permeability factor/vascular endothelial growth factor by human granulosa and theca lutein cells. Role in corpus luteum development. Am J Pathol 1995; 146:157-65
- Lee EJ, Oh BS, Lee JY, Kim K, Park JM, Baek KH. Association study between single nucleotide polymorphisms in the VEGF gene and polycystic ovary syndrome. Fertil Steril 2008; 89: 1751-9 https://doi.org/10.1016/j.fertnstert.2007.06.049
-
Kim JJ, Choi YM, Choung SH, Yoon SH, Lee GH, Moon SY. Estrogen receptor
$\beta$ gene +1730 G/A polymorphism in women with polycystic ovary syndrome. Fertil Steril 2009 2009 Jan 29 [Epub ahead of print] -
Krege JH, Hodgin JB, Couse JF, Enmark E, Wagner M, Mahler JF, et al. Generation and reproductive phenotypes of mice lacking estrogen receptor-
$\beta$ . Proc Natl Acad Sci USA 1998; 95: 15677-82 https://doi.org/10.1073/pnas.95.26.15677 -
Enmark E, Pelto-Huikko M, Grandien K, Lagercrantz S, Lagercrantz J, Fried G, et al. Human estrogen receptor
$\beta$ gene structure, chromosomal localization, and expression pattern. J Clin Endocrinol Metab 1997; 82: 4258-65 https://doi.org/10.1210/jc.82.12.4258 - Duffy DM, Chaffin CL, Stouffer RL. Expression of estrogen receptor alpha and beta in the rhesus monkey corpus luteum during the menstrual cycle: regulation by luteinizing hormone and progesterone. Endocrinology 2000; 141: 1711-7 https://doi.org/10.1210/en.141.5.1711
- Hosokawa K, Ottander U, Wahlberg P, Ny T, Cajander S, Olofsson IJ. Dominant expression and distribution of oestrogen receptor beta over oestrogen alpha in the human corpus luteum. Mol Hum Reprod 2001; 7: 137-45 https://doi.org/10.1093/molehr/7.2.137
- Kim JJ, Choi YM, Hong MA, Hwang SS, Yoon SH, Chae SJ, et al. Phosphatidylinositol 3-kinase p85a regulatory subunit gene Met326Ile polymorphism in women with polycystic ovary syndrome. Hum Reprod 2009 Feb 13 [Epub ahead of print]
-
Unluturk U, Harmanci A, Kocaefe C, Yildiz BO. The Genetic Basis of the Polycystic Ovary Syndrome: A Literature Review Including Discussion of PPAR-
$\gamma$ PPAR Research 2007;2007: 49109