메뉴 건너뛰기




Volumn 18, Issue 6, 2012, Pages 320-324

Association study of CYP17 and HSD11B1 in polycystic ovary syndrome utilizing comprehensive gene coverage

Author keywords

CYP17; Haplotype; HSD11B1; Polycystic ovary syndrome; Single nucleotide polymorphism

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; CYTOCHROME P450C17;

EID: 84861737570     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gas002     Document Type: Article
Times cited : (32)

References (29)
  • 2
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263-265.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 3
    • 0031906157 scopus 로고    scopus 로고
    • Measurement of total serum testosterone levels using commercially available kits: high degree of between-kit variability
    • Boots LR, Potter S, Potter D, Azziz R. Measurement of total serum testosterone levels using commercially available kits: high degree of between-kit variability. Fertil Steril 1998;69:286-292.
    • (1998) Fertil Steril , vol.69 , pp. 286-292
    • Boots, L.R.1    Potter, S.2    Potter, D.3    Azziz, R.4
  • 4
    • 0028024363 scopus 로고
    • Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17
    • Carey AH, Waterworth D, Patel K, White D, Little J, Novelli P, Franks S, Williamson R. Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17. Hum Mol Genet 1994;3:1873-1876.
    • (1994) Hum Mol Genet , vol.3 , pp. 1873-1876
    • Carey, A.H.1    Waterworth, D.2    Patel, K.3    White, D.4    Little, J.5    Novelli, P.6    Franks, S.7    Williamson, R.8
  • 6
    • 0042667127 scopus 로고    scopus 로고
    • Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency
    • Draper N, Walker EA, Bujalska IJ, Tomlinson JW, Chalder SM, Arlt W, Lavery GG, Bedendo O, Ray DW, Laing I et al. Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. Nat Genet 2003;34:434-439.
    • (2003) Nat Genet , vol.34 , pp. 434-439
    • Draper, N.1    Walker, E.A.2    Bujalska, I.J.3    Tomlinson, J.W.4    Chalder, S.M.5    Arlt, W.6    Lavery, G.G.7    Bedendo, O.8    Ray, D.W.9    Laing, I.10
  • 7
    • 33745211631 scopus 로고    scopus 로고
    • Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome
    • Draper N, Powell BL, Franks S, Conway GS, Stewart PM, McCarthy MI. Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome. Clin Endocrinol (Oxf) 2006;65:64-70.
    • (2006) Clin Endocrinol (Oxf) , vol.65 , pp. 64-70
    • Draper, N.1    Powell, B.L.2    Franks, S.3    Conway, G.S.4    Stewart, P.M.5    McCarthy, M.I.6
  • 8
    • 55649118861 scopus 로고    scopus 로고
    • 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
    • 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;57:1765-1771.
    • (2008) Metabolism , vol.57 , pp. 1765-1771
    • Echiburu, B.1    Perez-Bravo, F.2    Maliqueo, M.3    Sanchez, F.4    Crisosto, N.5    Sir-Petermann, T.6
  • 9
    • 33744954783 scopus 로고    scopus 로고
    • Genetic variation in 11beta-hydroxysteroid dehydrogenase type 1 predicts adrenal hyperandrogenism among lean women with polycystic ovary syndrome
    • Gambineri A, Vicennati V, Genghini S, Tomassoni F, Pagotto U, Pasquali R, Walker BR. Genetic variation in 11beta-hydroxysteroid dehydrogenase type 1 predicts adrenal hyperandrogenism among lean women with polycystic ovary syndrome. J Clin Endocrinol Metab 2006;91:2295-2302.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 2295-2302
    • Gambineri, A.1    Vicennati, V.2    Genghini, S.3    Tomassoni, F.4    Pagotto, U.5    Pasquali, R.6    Walker, B.R.7
  • 10
  • 11
    • 16044372273 scopus 로고    scopus 로고
    • 5' polymorphism of the CYP17 gene is not associated with serum testosterone levels in women with polycystic ovaries
    • Gharani N, Waterworth DM, Williamson R. Franks S. 5' polymorphism of the CYP17 gene is not associated with serum testosterone levels in women with polycystic ovaries. J Clin Endocrinol Metab 1996;81:4174.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 4174
    • Gharani, N.1    Waterworth, D.M.2    Williamson, R.3    Franks, S.4
  • 12
    • 78649450343 scopus 로고    scopus 로고
    • At the crossroads of steroid hormone biosynthesis: the role, substrate specificity and evolutionary development of CYP17
    • Gilep AA, Sushko TA, Usanov SA. At the crossroads of steroid hormone biosynthesis: the role, substrate specificity and evolutionary development of CYP17. Biochim Biophys Acta 2011;1814:200-209.
    • (2011) Biochim Biophys Acta , vol.1814 , pp. 200-209
    • Gilep, A.A.1    Sushko, T.A.2    Usanov, S.A.3
  • 13
    • 38149138010 scopus 로고    scopus 로고
    • Looking for polycystic ovary syndrome genes: rational and best strategy
    • Goodarzi MO. Looking for polycystic ovary syndrome genes: rational and best strategy. Semin Reprod Med 2008;26:5-13.
    • (2008) Semin Reprod Med , vol.26 , pp. 5-13
    • Goodarzi, M.O.1
  • 14
    • 33744917014 scopus 로고    scopus 로고
    • Diagnosis, epidemiology, and genetics of the polycystic ovary syndrome
    • Goodarzi MO, Azziz R. Diagnosis, epidemiology, and genetics of the polycystic ovary syndrome. Best Pract Res Clin Endocrinol Metab 2006; 20:193-205.
    • (2006) Best Pract Res Clin Endocrinol Metab , vol.20 , pp. 193-205
    • Goodarzi, M.O.1    Azziz, R.2
  • 15
    • 10744230741 scopus 로고    scopus 로고
    • Determination and use of haplotypes: ethnic comparison and association of the lipoprotein lipase gene and coronary artery disease in Mexican-Americans
    • Goodarzi MO, Guo X, Taylor KD, Quinones MJ, Samayoa C, Yang H, Saad MF, Palotie A, Krauss RM, Hsueh WA et al. Determination and use of haplotypes: ethnic comparison and association of the lipoprotein lipase gene and coronary artery disease in Mexican-Americans. Genet Med 2003;5:322-327.
    • (2003) Genet Med , vol.5 , pp. 322-327
    • Goodarzi, M.O.1    Guo, X.2    Taylor, K.D.3    Quinones, M.J.4    Samayoa, C.5    Yang, H.6    Saad, M.F.7    Palotie, A.8    Krauss, R.M.9    Hsueh, W.A.10
  • 16
    • 33749567350 scopus 로고    scopus 로고
    • Variants in the 5alpha-reductase type 1 and type 2 genes are associated with polycystic ovary syndrome and the severity of hirsutism in affected women
    • Goodarzi MO, Shah NA, Antoine HJ, Pall M, Guo X, Azziz R. Variants in the 5alpha-reductase type 1 and type 2 genes are associated with polycystic ovary syndrome and the severity of hirsutism in affected women. J Clin Endocrinol Metab 2006;91:4085-4091.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 4085-4091
    • Goodarzi, M.O.1    Shah, N.A.2    Antoine, H.J.3    Pall, M.4    Guo, X.5    Azziz, R.6
  • 17
    • 5144219562 scopus 로고    scopus 로고
    • Role of a CYP17 polymorphism in the regulation of circulating dehydroepiandrosterone sulfate levels in women with polycystic ovary syndrome
    • 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;82:973-975.
    • (2004) Fertil Steril , vol.82 , pp. 973-975
    • Kahsar-Miller, M.1    Boots, L.R.2    Bartolucci, A.3    Azziz, R.4
  • 18
    • 0032428506 scopus 로고    scopus 로고
    • Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome
    • Legro RS, Driscoll D, Strauss JF, Fox J, Dunaif A. Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome. Proc Natl Acad Sci USA 1998;95:14956-4960.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 14956-14960
    • Legro, R.S.1    Driscoll, D.2    Strauss, J.F.3    Fox, J.4    Dunaif, A.5
  • 19
    • 1842404741 scopus 로고    scopus 로고
    • CYP17 gene analysis in hyperandrogenised women with and without exaggerated 17-hydroxyprogesterone response to ovarian stimulation
    • Liovic M, Prezelj J, Kocijancic A, Majdic G, Komel R. CYP17 gene analysis in hyperandrogenised women with and without exaggerated 17-hydroxyprogesterone response to ovarian stimulation. J Endocrinol Invest 1997;20:189-193.
    • (1997) J Endocrinol Invest , vol.20 , pp. 189-193
    • Liovic, M.1    Prezelj, J.2    Kocijancic, A.3    Majdic, G.4    Komel, R.5
  • 20
    • 0033006003 scopus 로고    scopus 로고
    • Allelic discrimination using fluorogenic probes and the 5' nuclease assay
    • Livak KJ. Allelic discrimination using fluorogenic probes and the 5' nuclease assay. Genet Anal 1999;14:143-149.
    • (1999) Genet Anal , vol.14 , pp. 143-149
    • Livak, K.J.1
  • 22
    • 48749100273 scopus 로고    scopus 로고
    • Association study for single nucleotide polymorphisms in the CYP17A1 gene and polycystic ovary syndrome
    • 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;22:249-254.
    • (2008) Int J Mol Med , vol.22 , pp. 249-254
    • Park, J.M.1    Lee, E.J.2    Ramakrishna, S.3    Cha, D.H.4    Baek, K.H.5
  • 23
    • 44449113753 scopus 로고    scopus 로고
    • Polymorphism in CYP11alpha and CYP17 genes and the etiology of hyperandrogenism in patients with polycystic ovary syndrome
    • Perez MS, Cerrone GE, Benencia H, Marquez N, De Piano E, Frechtel GD. Polymorphism in CYP11alpha and CYP17 genes and the etiology of hyperandrogenism in patients with polycystic ovary syndrome. Medicina (B Aires) 2008;68:129-134.
    • (2008) Medicina (B Aires) , vol.68 , pp. 129-134
    • Perez, M.S.1    Cerrone, G.E.2    Benencia, H.3    Marquez, N.4    De Piano, E.5    Frechtel, G.D.6
  • 24
    • 67651097796 scopus 로고    scopus 로고
    • CYP11A1 and CYP17 promoter polymorphisms associate with hyperandrogenemia in polycystic ovary syndrome
    • Pusalkar M, Meherji P, Gokral J, Chinnaraj S, Maitra A. CYP11A1 and CYP17 promoter polymorphisms associate with hyperandrogenemia in polycystic ovary syndrome. Fertil Steril 2009;92:653-659.
    • (2009) Fertil Steril , vol.92 , pp. 653-659
    • Pusalkar, M.1    Meherji, P.2    Gokral, J.3    Chinnaraj, S.4    Maitra, A.5
  • 26
    • 0030988978 scopus 로고    scopus 로고
    • Frequency of a polymorphism in the regulatory region of the 17 alpha-hydroxylase-17,20-lyase (CYP17) gene in hyperandrogenic states
    • Techatraisak K, Conway GS, Rumsby G. Frequency of a polymorphism in the regulatory region of the 17 alpha-hydroxylase-17,20-lyase (CYP17) gene in hyperandrogenic states. Clin Endocrinol (Oxf) 1997;46:131-134.
    • (1997) Clin Endocrinol (Oxf) , vol.46 , pp. 131-134
    • Techatraisak, K.1    Conway, G.S.2    Rumsby, G.3
  • 27
    • 79959503826 scopus 로고    scopus 로고
    • The International HapMap, Project
    • The International HapMap Consortium
    • The International HapMap Consortium. The International HapMap Project. Nature 2003;426:789-796.
    • (2003) Nature , vol.426 , pp. 789-796
  • 28
    • 67349155556 scopus 로고    scopus 로고
    • Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome
    • Unsal T, Konac E, Yesilkaya E, Yilmaz A, Bideci A, Ilke Onen H, Cinaz P, Menevse A. Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome. J Assist Reprod Genet 2009;26:205-216.
    • (2009) J Assist Reprod Genet , vol.26 , pp. 205-216
    • Unsal, T.1    Konac, E.2    Yesilkaya, E.3    Yilmaz, A.4    Bideci, A.5    Ilke Onen, H.6    Cinaz, P.7    Menevse, A.8
  • 29
    • 0001217801 scopus 로고
    • Diagnostic criteria for polycystic ovary syndrome: towards a rational approach
    • Dunaif A, Givens JR, Haseltine F, Merriam GR (eds). Cambridge: Blackwell Scientific Publications
    • Zawadzki JK, Dunaif A. Diagnostic criteria for polycystic ovary syndrome: towards a rational approach. In: Dunaif A, Givens JR, Haseltine F, Merriam GR (eds). Polycystic Ovary Syndrome. Cambridge: Blackwell Scientific Publications, 1992, 377-384.
    • (1992) Polycystic Ovary Syndrome , pp. 377-384
    • Zawadzki, J.K.1    Dunaif, A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.