title: The (TTTA)n polymorphism in intron 4 of CYP19 and the polycystic ovary syndrome risk in a Chinese population.
abstract: Polycystic ovary syndrome (PCOS) is a heterogeneous disease with a strong genetic origin, but the specific determinants are still unknown. The aim of this study was to investigate the association between the (TTTA) n polymorphism in intron 4 of CYP19 and the PCOS risk in a Chinese population. We performed a case-control study which involved 222 PCOS patients and 281 controls. The fluorescent-labeled target DNA fragments containing the (TTTA)n short tandem repeats were obtained by PCR, thereafter genotyped via capillary electrophoresis. Representative alleles were directly sequenced to confirm their repeat numbers. Genotype analysis revealed seven different alleles including 7-3(∆)-, 7-, 8-, 10-, 11-, 12- and 13-TTTA-repeats. The most common allele in a Chinese population is (TTTA) 11 in our study (0.354 for PCOS and 0.390 for controls). PCOS patients showed a higher frequency of short alleles compared with controls (0.47 vs. 0.41, OR=1.245, 95% CI 0.97-1.60). The overall allelic distributions of this polymorphism did not show any significant differences between PCOS patients and the control group. No statistical differences were found in the clinical parameters or serum steroid hormone levels among PCOS patients with different genotypes. In conclusion, PCOS patients had a higher frequency of short alleles, albeit this might not strongly affect the risk of PCOS.
authors: Jiangsu Key Laboratory of Molecular Medicine & Center for Translational Medicine, Medical School of Nanjing University, Nanjing, 210093, China.
authors: P
authors: P
authors: Xu
authors: X L
authors: XL
authors: Zhang
authors: G B
authors: GB
authors: Xie
authors: C W
authors: CW
authors: Zhang
authors: S M
authors: SM
authors: Shen
authors: X X
authors: XX
authors: Zhang
authors: Y X
authors: YX
authors: Cao
authors: W J
authors: WJ
authors: Wang
authors: Y N
authors: YN
authors: Che
authors: Y J
authors: YJ
authors: Xia
authors: X K
authors: XK
authors: Wu
authors: L
authors: L
authors: Yi
authors: Q
authors: Q
authors: Gao
authors: Y
authors: Y
authors: Wang
mesh_terms: D000704:Analysis of Variance; D001141:Aromatase / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D015992:Body Mass Index; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D016017:Odds Ratio; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D001141:Aromatase
references: Pharmacogenetics. 1998 Feb;8(1):43-8
references: 9511180
references: Biol Reprod. 1990 Jan;42(1):1-10
references: 1690030
references: Semin Reprod Med. 2004 Feb;22(1):5-9
references: 15083376
references: Fertil Steril. 2004 Jan;81(1):19-25
references: 14711538
references: J Clin Endocrinol Metab. 2002 May;87(5):2128-33
references: 11994352
references: Hum Reprod. 2002 Apr;17(4):897-902
references: 11925378
references: Fertil Steril. 1995 Mar;63(3):478-86
references: 7531655
references: Hormones (Athens). 2006 Jan-Mar;5(1):17-34
references: 16728382
references: Fertil Steril. 2010 Jun;94(1):250-4
references: 19324338
references: Hum Reprod. 2010 Dec;25(12):3129-33
references: 20937744
references: J Clin Endocrinol Metab. 1998 Apr;83(4):1348-57
references: 9543166
references: J Clin Endocrinol Metab. 2004 Jun;89(6):2803-10
references: 15181061
references: J Clin Endocrinol Metab. 2003 Dec;88(12):5976-80
references: 14671199
references: Oncogene. 2000 Mar 2;19(10):1329-33
references: 10713674
references: BMC Med Genet. 2009 Dec 16;10:139
references: 20015405
references: J Clin Endocrinol Metab. 2008 May;93(5):1939-45
references: 18303071
references: Neuro Endocrinol Lett. 2010;31(3):370-4
references: 20588246
references: Breast Cancer Res. 2005;7(1):R71-81
references: 15642171
references: Cancer Lett. 2004 Apr 30;207(2):183-9
references: 15072827
references: Cancer Lett. 2004 Apr 30;207(2):191-6
references: 15072828
references: Eur J Endocrinol. 2008 May;158(5):721-7
references: 18426832
references: J Steroid Biochem Mol Biol. 1999 Apr-Jun;69(1-6):293-7
references: 10419005
references: Int J Cancer. 2000 Jul 15;87(2):204-10
references: 10861475
references: Carcinogenesis. 2000 Feb;21(2):189-93
references: 10657957