Role of androgen receptor CAG repeat polymorphism and X-inactivation in the manifestation of recurrent spontaneous abortions in Indian women

PLoS ONE

Volumn 6, Issue 3, 2011, Pages

  Aruna, Meka ^a   Dasgupta, Shilpi ^a   Sirisha, Pisapati V S ^a   Bhaskar, Sadaranga Andal ^b   Tarakeswari, Surapaneni ^c   Singh, Lalji ^d   Reddy, B Mohan ^a  

^a INDIAN STATISTICAL INSTITUTE   (India)

^b Lakshmi Fertility Clinic and Research Centre   (India)

^c Andhra Pradesh India   (India)

^d CENTRE FOR CELLULAR AND MOLECULAR BIOLOGY   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; AR PROTEIN, HUMAN;

AGE; ALLELE; ARTICLE; CAG REPEAT; CONTROLLED STUDY; ETHNICITY; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; INDIAN; INTERNAL CONSISTENCY; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; RECURRENT SPONTANEOUS ABORTION; SOCIOECONOMICS; SPONTANEOUS ABORTION; X CHROMOSOME INACTIVATION; CASE CONTROL STUDY; GENETICS; INDIA; PREGNANCY; RECURRENT ABORTION; STATISTICAL MODEL; TRINUCLEOTIDE REPEAT;

ABORTION, HABITUAL; ALLELES; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; HUMANS; INDIA; LOGISTIC MODELS; POLYMORPHISM, GENETIC; PREGNANCY; RECEPTORS, ANDROGEN; TRINUCLEOTIDE REPEATS; X CHROMOSOME INACTIVATION;

EID: 79952648861     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0017718     Document Type: Article

References (33)

1. Tulppala M, Stenman UH, Cacciatore B, Ylikorkala O, (1993) Polycystic ovaries and levels of gonadotropins and androgens in recurrent miscarriage: prospective study in 50 women. Br J Obstet Gynecol 100: 348-352.
2. Clifford K, Rai R, Watson H, Regan L, (1995) An informative protocol for the investigation of recurrent miscarriage: preliminary experience of 500 consecutive cases. Hum Reprod 10 (3): 694-695.
3. Bussen S, Sütterlin M, Steck T, (1999) Endocrine abnormalities during the follicular phase in women with recurrent spontaneous abortion. Hum Reprod 14 (1): 18-20.
4. Chamberlain NL, Driver ED, Miesfeld RL, (1994) The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res 22: 3181-3186.
5. Mifsud A, Ramirez S, Yong EL, (2000) Androgen receptor gene CAG trinucle-otide repeats in anovulatory infertility and polycystic ovaries. J Clin Endocrinol Metab 85: 3484-3488.
6. Shah NA, Antoine HJ, Pall M, Taylor KD, Azziz R, et al. (2008) Association of Androgen Receptor CAG Repeat Polymorphism and Polycystic Ovary Syndrome. J Clin Endocrinol Metab 93: 1939-1945.
7. Hickey T, Chandy A, Norman RJ, (2002) 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 87: 161-165.
8. Xita N, Georgiou I, Lazaros L, Psofaki V, Kolios G, et al. (2008) The role of sex hormone-binding globulin and androgen receptor gene variants in the development of polycystic ovary syndrome. Hum Reprod 23: 693-698.
9. Jaaskelainen J, Korhonen S, Voutilainen R, Hippelainen M, Heinonen S, (2005) Androgen receptor geneCAGlength polymorphism in women with polycystic ovary syndrome. Fertil Steril 83: 1724-1728.
10. Mohlig M, Jurgens A, Spranger J, Hoffmann K, Weickert MO, et al. (2006) The androgen receptor CAG repeat modifies the impact of testosterone on insulin resistance in women with polycystic ovary syndrome. Eur J Endocrinol 155: 127-130.
11. Ferk P, Perme MP, Teran N, Gersak K, (2008) Androgen receptor gene (CAG)n polymorphism in patients with polycystic ovary syndrome. Fertil Steril. 90 (3): 860-3.
12. Liu Q, Hong J, Cui B, Zhang Y, Gu W, et al. (2008) Androgen receptor gene CAG(n) trinucleotide repeats polymorphism in Chinese women with polycystic ovary syndrome. Endocrine 33 (2): 165-70.
13. Van Nieuwerburgh F, Stoop D, Cabri P, Dhont M, Deforce D, et al. (2008) Shorter CAG repeats in the androgen receptor gene may enhance hyperandrogenicity in polycystic ovary syndrome. Gynecol Endocrinol 24 (12): 669-73.
14. Kim JJ, Choung SH, Choi YM, Yoon SH, Kim SH, et al. (2008) Androgen receptor gene CAG repeat polymorphism in women with polycystic ovary syndrome. Fertil Steril 90 (6): 2318-23.
15. Dasgupta S, Sirisha PVS, Neelaveni K, Anuradha K, Reddy AG, et al. (2010) Androgen Receptor CAG Repeat Polymorphism and Epigenetic Influence among the South Indian Women with Polycystic Ovary Syndrome. PLoS ONE 5 (8): e12401.
16. Lanasa MC, Hogge WA, Kubik C, Blancato J, Hoffman EP, (1999) Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion. Am J Hum Genet 65 (1): 252-254.
17. Pegoraro E, Whitaker J, Mowery-Rushton P, Surti U, Lanasa M, et al. (1997) Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28. Am J Hum Genet 61 (1): 160-170.
18. Sangha KK, Stephenson MD, Brown CJ, Robinson WP, (1999) Extremely skewed X-chromosome inactivation is increased in women with recurrent spontaneous abortion. Am J Hum Genet 65 (3): 913-917.
19. Pasquier E, Bohec C, De Saint Martin L, Le Maréchal C, Le Martelot MT, et al. (2007) Strong evidence that skewed X-chromosome inactivation is not associated with recurrent pregnancy loss: an incident paired case control study. Hum Reprod 22 (11): 2829-2833.
20. Sullivan A, Lewis T, Stephenson M, Odem R, Schreiber J, et al. (2003) Pregnancy Outcome in Recurrent Miscarriage Patients With Skewed X chromosome Inactivation. Obstet Gynecol 101: 1236-1242.
21. Hogge W, Allen W, Prosen TL, Lanasa MC, Huber HA, et al. (2007) Recurrent Spontaneous Abortions and skewed X-Inactivation: Is there an association? Am J Obstet Gynecol 196 (4): 384.e1-6.
22. Kim JW, Park SY, Kim YM, Kim JM, Han JY, et al. (2004) X-chromosome Inactivation Patterns in Korean Women with idiopathic recurrent spontaneous abortions. J Korean Med Sci. 19 (2): 258-262.
23. Reiss HE, (1998) Reproductive Medicine: From A to Z. Oxford Oxford University Press.
24. Lanasa MC, Hogge WA, (2000) X chromosome defects as an etiology of recurrent spontaneous abortion. Semin Reprod Med 18: 97-103.
25. Beever CL, Stephenson MD, Penaherrera MS, Jiang RH, Kalousek DK, et al. (2003) Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies. Am J Hum Genet 72 (2): 399-407.
26. Reddy BM, Naidu VM, Madhavi VK, Thangaraj LK, Kumar V, et al. (2005) Microsatellite diversity in Andhra Pradesh, India: genetic stratification versus social stratification. Hum Biol 77: 803-823.
27. Sambrook J, Fritschi EF, Maniatis T, (1989) Molecular cloning: a laboratory manual. New York Cold Spring Harbor Laboratory Press.
28. Cram DS, Song B, McLachlan RI, Trounson AO, (2000) CAG trinucleotide repeats in the androgen receptor gene of infertile men exhibit stable inheritance in female offspring conceived after ICSI. Mol Hum Reprod 6 (9): 861-866.
29. Hussain MA, Khan AK, Abedin Z, Ferdous Z, Ahmad K, (1976) Studies on the nutritional status of expectant mothers and newborn babies. Bangladesh Med Res Counc Bull 2: 120-126.
30. Sharma R, Desai S, (1992) Vitamin A in pregnancy: a review. Ind J Matern Child Health 3 (2): 36-40.
31. Scholl TO, Johnson WG, (2000) Folic acid: influence on the outcome of pregnancy. Am J Clin Nut 71: 1295-1303.
32. Meka A, Reddy BM, (2006) Recurrent Spontaneous Abortions: An Overview of genetic and non-genetic backgrounds. Int J Hum Genet 6 (2): 109-117.
33. Sharp A, Robinson D, Jacobs P, (2000) Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet 2000 107 (4): 343-349.