Chorionic gonadotropin β-gene variants are associated with recurrent miscarriage in two European populations

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 12, 2008, Pages 4697-4706

  Rull, Kristiina ^a   Nagirnaja, Liina ^a   Ulander, Veli Matti ^b   Kelgo, Piret ^a   Margus, Tõnu ^a   Kaare, Milja ^c   Aittomäki, Kristiina ^b,c   Laan, Maris ^a  

^a UNIVERSITY OF TARTU   (Estonia)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN BETA SUBUNIT;

ADULT; ARTICLE; DNA POLYMORPHISM; ESTONIA; FEMALE; FINLAND; GENE; GENE SEQUENCE; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; POPULATION RESEARCH; PRIORITY JOURNAL; RECURRENT DISEASE; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SPONTANEOUS ABORTION;

EID: 57349129548     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-1101     Document Type: Article

References (40)

1. Berry CW, Brambati B, Eskes TK, Exalto N, Fox H, Geraedts JP, Gerhard I, Gonzales Gomes F, Grudzinskas JG, Hustin J 1995 The Euro-Team Early Pregnancy (ETEP) protocol for recurrent miscarriage. Hum Reprod 10: 1516-1520
2. Jauniaux E, Farquharson RG, Christiansen OB, Exalto N 2006 Evidence-based guidelines for the investigation and medical treatment of recurrent miscarriage. Hum Reprod 21:2216-2222
3. Li TC, Makris M, Tomsu M, Tuckerman E, Laird S 2002 Recurrent miscarriage: aetiology, management and prognosis. Hum Reprod Update 8:463-481
4. Christiansen OB 1996 A fresh look at the causes and treatments of recurrent miscarriage, especially its immunological aspects. Hum Reprod Update 2:271-293
5. Goodman CS, Coulam CB, Jeyendran RS, Acosta VA, Roussev R 2006 Which thrombophilic gene mutations are risk factors for recurrent pregnancy loss? Am J Reprod Immunol 56:230-236
6. Rey E, Kahn SR, David M, Shrier I 2003 Thrombophilic disorders and fetal loss: a meta-analysis. Lancet 361:901-908
7. Robertson L, Wu O, Langhorne P, Twaddle S, Clark P, Lowe GDO, Walker ID, Greaves M, Brenkel I, Regan L, Greer IA 2006 Thrombophilia in pregnancy: a systematic review. Br J Haematol 132:171-196
8. Hviid TV 2006 HLA-G in human reproduction: aspects of genetics, function and pregnancy complications. Hum Reprod Update 12:209-232
9. Licht P, Fluhr H, Neuwinger J, Wallwiener D, Wildt L 2007 Is human chorionic gonadotropin directly involved in the regulation of human implantation? Mol Cell Endocrinol 269:85-92
10. Toth P, Lukacs H, Gimes G, Sebestyen A, Pasztor N, Paulin F, Rao CV 2001 Clinical importance of vascular LH/hCG receptors - a review. Reprod Biol 1:5-11
11. Herr F, Baal N, Reisinger K, Lorenz A, McKinnon T, Preissner KT, Zygmunt M 2007 HCG in the regulation of placental angiogenesis. Results of an in vitro study. Placenta 28(Suppl A):S85-S93
12. Kayisli UA, Selam B, Guzeloglu-Kayislim O, Demir R, Arici A 2003 Human chorionic gonadotropin contributes to maternal immunotolerance and endometrial apoptosis by regulating Fas-Fas ligand system. J Immunol 171:2305-2313
13. Buyalos RP, Glassman LM, Rifka SM, Falk RJ, Macarthy PO, Tyson VJ, DiMattina M 1992 Serum β-human chorionic gonadotropin, estradiol and progesterone as early predictors of pathologic pregnancy. J Reprod Med 37: 261-266
14. Dumps P, Meisser A, Pons D, Morales MA, Anguenot JL, Campana A, Bischof P 2002 Accuracy of single measurements of pregnancy-associated plasma protein-A, human chorionic gonadotropin and progesterone in the diagnosis of early pregnancy failure. Eur J Obstet Gynecol Reprod Biol 100:174-180
15. Tong S, Wallace EM, Rombauts L 2006 Association between low day 16 hCG and miscarriage after proven cardiac activity. Obstet Gynecol 107(2 Pt 1): 300-304
16. Bo M, Boime I 1992 Identification of the transcriptionally active genes of the chorionic gonadotropin β gene cluster in vivo. J Biol Chem 267:3179-3184
17. Miller-Lindholm AK, LaBenz CJ, Ramey J, Bedows E, Ruddon RW 1997 Human chorionic gonadotropin-β gene expression in first trimester placenta. Endocrinology 138:5459-5465
18. Rull K, Laan M 2005 Expression of β-subunit of human chorionic gonadotropin genes during the normal and failed pregnancy. Hum Reprod 20: 3360-3368
19. Hallast P, Nagirnaja L, Margus T, Laan M 2005 Segmental duplications and gene conversion: human luteinizing hormone/chorionic gonadotropin β gene cluster. Genome Res 15:1535-1546
20. Rull K, Hallast P, Uusküla L, Jackson J, Punab M, Salumets A, Campbell RK, Laan M 2008 Fine-scale quantification of HCG β gene transcription in human trophoblastic and non-malignant non-trophoblastic tissues. Mol Hum Reprod 14:23-31
21. Ulander VM 2007 Venous thromboembolism during pregnancy and the impact of thrombophilia in pregnancy complications, PhD thesis, University of Helsinki, Faculty of Medicine, Institute of Clinical Medicine (http://urn.fi/ URN:ISBN:978-952-10-3671-2)
22. Kaare M, Ulander VM, Painter JN, Ahvenainen T, Kaaja R, Aittomäki K 2007 Variations in the thrombomodulin and endothelial protein C receptor genes in couples with recurrent miscarriage. Hum Reprod 22:864-868
23. Bhangale TR, Stephens M, Nickerson DA 2006 Automating resequencing-based detection of insertion-deletion polymorphisms. Nat Genet 38:1457-1462
24. Stephens M, Smith N, Donnelly P 2001 A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989
25. Rozas J, Rozas R 1999 DnaSP version 3: an integrated program for molecular population and molecular evolution analysis. Bioinformatics 15:174-175
26. Tajima F 1989 Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123:585-595
27. Schneider S, Roessli D, Excoffier L 2000 Arlequin version 2.000: a software for population genetic data analysis. Geneva: Genetics and Biometry Laboratory, University of Geneva, Switzerland
28. Bandelt HJ, Forster P, Röhl A 1999 Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol 16:37-48
29. Barrett JC, Fry B, Maller J, Daly MJ 2005 Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265
30. Ghosh D, Ezashi T, Ostrowski MC, Roberts RM 2003 A central role for Ets-2 in the transcriptional regulation and cyclic adenosine 5′-monophosphate responsiveness of the human chorionic gonadotropin-β subunit gene. Mol Endocrinol 17:11-26
31. Dosiou C, Giudice LC 2005 Natural killer cells in pregnancy and recurrent pregnancy loss: endocrine and immunologic perspectives. Endocr Rev 26:44-62
32. Jurisicova A, Antenos M, Kapasi K, Meriano J, Casper RF 1999 Variability in the expression of trophectodermal markers β-human chorionic gonadotrophin, human leukocyte antigen-G and pregnancy specific β-1 glycoprotein by the human blastocyst. Hum Reprod 14:1852-1858
33. Sedman L, Padhukasahasram B, Kelgo P, Laan M 2008 Complex signatures of locus-specific selective pressures and gene conversion on human growth hormone/chorionic somatomammotropin genes. Hum Mutat 29:1181-1193
34. Fredman D, White SJ, Potter S, Eichler EE, Den Dunnen JT, Brookes AJ 2004 Complex SNP-related sequence variation in segmental genome duplications. Nat Genet 36:861-866
35. Miller-Lindholm AK, Bedows E, Bartels CF, Ramey J, Maclin V, Ruddon RW 1999 A naturally occurring genetic variant in the human chorionic gonadotropin-β gene 5 is assembly inefficient. Endocrinology 140:3496-3506
36. Jiang M, Savontaus ML, Simonsen H, Williamson C, Müllenbach R, Gromoll J, Terwort N, Alevizaki M, Huhtaniemi I 2004 Absence of the genetic variant Val79Met in human chorionic gonadotropin-β gene 5 in five European populations. Mol Hum Reprod 10:763-766
37. Johnson W, Jameson JL 1999 AP-2 (activating protein 2) and Sp1 (selective promoter factor 1) regulatory elements play distinct roles in the control of basal activity and cyclic adenosine 3′,5′-monophosphate responsiveness of the human chorionic gonadotropin-β promoter. Mol Endocrinol 13:1963-1975
38. Albanese C, Kay TW, Troccoli NM, Jameson JL 1991 Novel cyclic adenosine 3′,5′-monophosphate response element in the human chorionic gonadotropin β-subunit gene. Mol Endocrinol 5:693-702
39. Steger DJ, Hecht JH, Mellon PL 1994 GATA-binding proteins regulate the human gonadotropin α-subunit gene in the placenta and pituitary gland. Mol Cell Biol 14:5592-5602
40. Norio R, Nevanlinna HR, Perheentupa J 1973 Hereditary diseases in Finland; rare flora in rare soul. Ann Clin Res 5:109-141