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Review

Genetic factors influencing recurrent pregnancy loss: lessons learnt from recent studies

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Pages 363-378 | Published online: 10 Jan 2014

References

  • Devi Wold A, Arici A, Kutteh W. Recurrent pregnancy loss. In: Clinical Reproductive Medicine and Surgery. Falcone T, Hurd W (Eds). Elseiver, UK (2007).
  • Reiss HE. Reproductive Medicine: From A to Z. Oxford University Press, Oxford, UK (1998).
  • Lanasa MC, Hogge WA. X chromosome defects as an etiology of recurrent spontaneous abortion. Semin. Reprod. Med.18, 97–103 (2000).
  • Beever CL, Stephenson MD, Penaherrera MS et al. 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 (2003).
  • Boue J, Boue A, Lazar P. Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. Teratology12, 11–26 (1975).
  • Arora M, Sinha R, Mahajan C, Mittal C, Mittal PS. Anatomical causes. In: Recurrent Pregnancy Loss. Arora M, Konje JC (Eds). Jaypee Brothers Medical Publishers, New Delhi, India, 135–163 (2007).
  • Wilson R, Ling H, MacLean MA et al. Thyroid antibody titer and avidity in patients with recurrent miscarriage. Fertil. Steril.71, 558–561 (1999).
  • Ford HB, Schust DJ. Recurrent pregnancy loss: etiology, diagnosis and therapy. Rev. Obstet. Gynecol.2(2), 76–83 (2009).
  • Dorman JS, Burke JP, McCarthy BJ et al. Temporal trends in spontaneous abortion associated with Type 1 diabetes. Diabetes Res. Clin. Pract.43, 41–47 (1999).
  • Regan L, Owen EJ, Jacobs HS. Hypersecretion of luteinising hormone, infertility and miscarriage. Lancet336, 1141–1144 (1990).
  • Christiansen OB. A fresh look at the causes and treatments of recurrent miscarriage, especially its immunological aspects. Hum. Reprod. Update2, 271–293 (1996).
  • Pal N. Thyroid and medical disorders. In: Recurrent Pregnancy Loss. Arora M, Konje JC (Eds). Jaypee Brothers Medical Publishers, New Delhi, India, 135–163 (2007).
  • García-Enguídanosa A, Calleb ME, Valeroc J, Lunaa S, Domínguez-Rojas V. Risk factors in miscarriage: a review. Eur. J. Obst. Gyn. Repro. Biol.102, 111–119 (2002).
  • Christiansen OB, Steffensen R, Nielsen HS, Varming K. Multifactorial etiology of recurrent miscarriage and its scientific and clinical implications. Gynecol. Obstet. Invest.66, 257–267 (2008).
  • Ober C. HLA and pregnancy: the paradox of the fetal allograft. Am. J. Hum. Genet.62, 1–5 (1998).
  • Pfeiffer KA, Fimmers R, Engels G, Van der Ven H. The HLA-G is potentially associated with idiopathic recurrent spontaneous abortions. Mol. Hum. Reprod.7, 373–378 (2001).
  • Aldrich CL, Stephenson MD, Karrison T et al.HLA-G genotypes and pregnancy outcome in couples with unexplained recurrent miscarriage. Mol. Hum. Genet.7, 1167–1172 (2001).
  • Beer AE, Qqebbman JF, Ayes JWT, Haines RF. Major histocompatibility complex antigens, maternal and paternal immune responses and chronic habitual miscarriage. Am. J. Obstet. Gynecol.141, 987–999 (1981).
  • Abbas A, Tripathi P, Naik S, Agrawal S. Analysis of human leukocyte antigen (HLA)-G polymorphism in normal women and in women with recurrent spontaneous abortions. Eur. J. Immunogenet.31, 275–278 (2004).
  • Aruna M, Sudheer PS, Andal S et al.HLA-G polymorphism patterns show lack of detectable association with recurrent spontaneous abortion. Tissue Antigens76(3), 216–222 (2010).
  • Hviid TV, Hylenius S, Hoegh AM, Kruse C, Christiansen OB. HLA-G polymorphisms in couples with recurrent spontaneous abortions. Tissue Antigens60, 122–132 (2002).
  • Moreau P, Contu L, Alba F et al. HLA-G gene polymorphism in human placentas: possible association of G*0106 allele with preeclampsia and miscarriage. Biol. Reprod.79(3), 459–467 (2008).
  • Aruna M, Sirisha PV, Andal Bhaskar S, Tarakeswari S, Thangaraj K, Reddy BM. Role of 14-bp insertion/deletion polymorphism in HLA-G among Indian women with recurrent spontaneous abortions. Tissue Antigens77(2), 131–135 (2011).
  • Tripathi P, Naik S, Agrawal S. HLA-E*0101 associated with recurrent spontaneous abortion. J. Turkish-German Gynecol. Assoc.8, 278–282 (2007).
  • Mosaad YM, Abdel-Dayem Y, El-Deek BS, El-Sherbini SM. Association between HLA-E *0101 homozygosity and recurrent miscarriage in Egyptian women. Scand. J. Immunol.74(2), 205–209 (2011).
  • Christiansen OB, Rasmussen KL, Jersild C, Grunnet N. HLA class II alleles confer susceptibility to recurrent fetal losses in Danish women. Tissue Antigens44(4), 225–233 (1994).
  • Aruna M, Nagaraja T, Andal Bhaskar S et al. Novel alleles of HLA-DQ and -DR loci show association with recurrent miscarriages among South Indian women. Hum. Reprod.26(4), 765–774 (2011).
  • Zheng ML, Niu LY. Association of soluble human leukocyte antigen DQB1 with recurrent spontaneous abortion. Zhonghua Fu Chan Ke Za Zhi41(3), 152–154 (2006).
  • Wang XP, Lin QD, Lu PH, Ma ZW, Zhao AM. Association of DQB1 coding region with unexplained recurrent spontaneous abortion. Chinese Med. J.117(4), 492–497 (2004).
  • Sipak-Szmigiel O, Ronin-Walknowska E, Mikłaszewicz A, Dołubeczko A, Zejmo M, Giedrys-Kalemba S. Association between HLA-DQA1, HLA-DQB1 alleles and risk of early pregnancy loss. Ginekol. Pol.78(10), 792–795 (2007).
  • Hviid TV, Christiansen OB. Linkage disequilibrium between human leukocyte antigen (HLA) class II and HLA-G – possible implications for human reproduction and autoimmune disease. Hum. Immunol.66(6), 688–699 (2005).
  • Shankarkumar U, Devaraj J, Ghosh K, Mohanty D. HLA DRB1 and DQB1 gene diversity in Maratha community from Mumbai India. Int. J. Hum. Genet.3, 39–43 (2008).
  • Kruse C, Steffensen R, Varming K, Christiansen OB. A study of HLA-DR and -DQ alleles in 588 patients and 562 controls confirms that HLA DRB1*03 is associated with recurrent miscarriage. Hum. Reprod.19, 1215–1221 (2004).
  • Christiansen OB, Pedersen B, Mathiesen O, Husth M, Grunnet N. Maternal HLA class II alleles predispose to pregnancy losses in Danish women with recurrent spontaneous abortions and their female relatives. Am. J. Reprod. Immunol.35(3), 239–244 (1996).
  • Christiansen OB, Ring M, Rosgaard A, Grunnet N, Gluud C. Association between HLA-DR1 and -DR3 antigens and unexplained repeated miscarriage. Hum. Reprod. Update5, 249–255 (1999).
  • Ober C, Steck T, van der Ven K et al. MHC class II compatibility in aborted fetuses and term infants of couples with recurrent spontaneous abortion. J. Reprod. Immunol.25(3), 195–207 (1993).
  • Christiansen OB, Riisom K, Lauritsen JG, Grunnet N. No increased histocompatibility antigen-sharing in couples with idiopathic habitual abortions. Hum. Reprod.4(2), 160–162 (1989).
  • Prigoshin N, Tambutti M, Larriba J, Gogorza S, Testa R. Cytokine gene polymorphisms in recurrent pregnancy loss of unknown cause. Am. J. Reprod. Immunol.52, 36–41 (2004).
  • Laird SM, Tuckerman EM, Cork BA, Linjawi S, Blakemore AIF, Li TC. A review of immune cells and molecules in women with recurrent miscarriage. Hum. Reprod.9(2), 163–174 (2003).
  • Choi YK, Kwak-Kim J. Cytokine gene polymorphisms in recurrent spontaneous abortions: a comprehensive review. Am. J. Reprod. Immunol.60(2), 91–110 (2008).
  • Liu C, Wang J, Zhou S, Wang B, Ma X. Association between -238 but not -308 polymorphism of Tumor necrosis factor α (TNF-α) and unexplained recurrent spontaneous abortion (URSA) in Chinese population. Reprod. Biol. Endocrinol.28(8), 114 (2010).
  • Palmirotta R, La Farina F, Ferroni P et al. TNF α gene promoter polymorphisms and susceptibility to recurrent pregnancy loss in Italian women. Reprod. Sci.17(7), 659–666 (2010).
  • Finan RR, Al-Irhayim Z, Mustafa FE et al. Tumor necrosis factor-α polymorphisms in women with idiopathic recurrent miscarriage. J. Reprod. Immunol.84(2), 186–192 (2010).
  • Kiwi R. Recurrent pregnancy loss: evaluation and discussion of the causes and their management. Cleve. Clin. J. Med.73(10), 913–921 (2006).
  • Kovalevsky G, Gracia CR, Berlin JA, Sammel MD, Barnhart KT. Evaluation of the association between hereditary thrombophilias and recurrent pregnancy loss: a meta-analysis. Arch. Intern. Med.164(5), 558–563 (2004).
  • Aruna M, Nagaraja T, Andal S et al. Role of progesterone receptor polymorphisms in the recurrent spontaneous abortions: Indian case. PLoS One5(1), e8712 (2010).
  • Donaldson CJ, Crapanzano JP, Watson JC, Levine EA, Batzer MA. PROGINS Alu insertion and human genomic diversity. Mutation Res.501, 137–141 (2002).
  • Lira S, Blanquet J, Tserotas K, Calzada L. Endometrial progesterone and estradiol receptors in patients with recurrent early pregnancy loss of unknown etiology – preliminary report. Med. Sci. Monit.6(4), 759–762 (2000).
  • Hickman TN, Shih LM, Zacur HA, Kurman RJ, Diener-west M, Gearhart JD. Decreased progesterone receptor expression in the intermediate trophoblastic cells of spontaneous abortions. Fertil. Steril.77(5), 1001–1005 (2002).
  • Babalioglu R, Varol FG, Ilhan R, Yalcin O, Cizmecioglu F. Progesterone profiles in luteal-phase defects associated with recurrent spontaneous abortions. J. Assist. Reprod. Genet.13, 306–309 (1996).
  • Mansour I, Reznikoff-Etievant MF, Netter A. No evidence for the expression of the progesterone receptor on peripheral blood lymphocytes during pregnancy. Hum. Reprod.9(8), 1546–1549 (1994).
  • Karvela M, Papadopoulou S, Tsaliki E et al. Endothelial nitric oxide synthase gene polymorphisms in recurrent spontaneous abortions. Arch. Gynecol. Obstet.278(4), 349–352 (2008).
  • Shin SJ, Lee HH, Cha SH et al. Endothelial nitric oxide synthase gene polymorphisms (-786T>C, 4a4b, 894G>T) and haplotypes in Korean patients with recurrent spontaneous abortion. Eur. J. Obstet. Gynecol. Reprod. Biol.152(1), 64–67 (2010).
  • Al Sallout RJ, Sharif FA. Polymorphisms in NOS3, ACE and PAI-1 genes and risk of spontaneous recurrent miscarriage in the Gaza Strip. Med. Princ. Pract.19(2), 99–104 (2011).
  • Vanniarajan A, Govindaraj P, Carlus SJ et al. Mitochondrial DNA variations associated with recurrent pregnancy loss among Indian women. Mitochondrion11(3), 450–456 (2011).
  • Bellver J, Meseguer M, Muriel L et al. Y chromosome microdeletions, sperm DNA fragmentation and sperm oxidative stress as causes of recurrent spontaneous abortion of unknown etiology. Hum. Reprod.25(7), 1713–1721 (2010).
  • Yan J, Fan L, Zhao Y et al. DYZ1 copy number variation, Y chromosome polymorphism and early recurrent spontaneous abortion/early embryo growth arrest. Eur. J. Obstet. Gynecol. Reprod. Biol.159(2), 371–374 (2011).
  • Venkatesh S, Thilagavathi J, Kumar K, Deka D, Talwar P, Dada R. Cytogenetic, Y chromosome microdeletion, sperm chromatin and oxidative stress analysis in male partners of couples experiencing recurrent spontaneous abortions. Arch. Gynecol. Obstet.284(6), 1577–1584 (2011).
  • Lanasa MC, Hogge WA, Kubic C, Blancato J, Hoffman EP. Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion. Am. J. Hum. Genet.65, 252–254 (1999).
  • Aruna M, Dasgupta S, Sirisha PV et al. Role of androgen receptor CAG repeat polymorphism and X-inactivation in the manifestation of recurrent spontaneous abortions in Indian women. PLoS One6(3), e17718 (2011).
  • Lee J, Oh J, Choi E et al. Differentially expressed genes implicated in unexplained recurrent spontaneous abortion. Int. J. Biochem. Cell Biol.39(12), 2265–2277 (2007).
  • Wang L, Wang ZC, Xie C, Liu XF, Yang MS. Genome-wide screening for risk loci of idiopathic recurrent miscarriage in a Han Chinese population: a pilot study. Reprod. Sci.17, 578–584 (2010).
  • Kolte AM, Nielsen HS, Moltke I et al. A genome-wide scan in affected sibling pairs with idiopathic recurrent miscarriage suggests genetic linkage. Mol. Hum. Reprod.17(6), 379–385 (2011).
  • Aruna M, Reddy BM. Recurrent spontaneous abortions: an overview of genetic and non-genetic backgrounds. Int. J. Hum. Genet.6(2), 109–117 (2006).
  • Dhandapany PS, Sadayappan S, Xue Y et al. A common cardiac myosin binding protein C variant associated with cardiomyopathies in South Asia. Nat. Genet.41, 187–191 (2009).
  • Mosaad YM, Abdel-Dayem Y, El-Deek BS, El-Sherbini SM. Association between HLA-E *0101 homozygosity and recurrent miscarriage in Egyptian women. Scand. J. Immunol.74(2), 205–209 (2011).
  • Dai MZ, Pan YQ, Xu DP et al. IL-1 receptor antagonist gene polymorphism in idiopathic recurrent spontaneous abortion in a Chinese Han population. Int. J. Immunogenet.37(5), 393–396 (2010).
  • Zutshi N, Gandhi M, Kaul P. CD46 polymorphism: a probable risk factor for recurrent spontaneous abortion in a northern Indian population. Nat. Med. J. India23(2), 85–87 (2010).
  • Wang S, Zhao YR, Jiao YL et al. Increased activating killer immunoglobulin-like receptor genes and decreased specific HLA-C alleles in couples with recurrent spontaneous abortion. Biochem. Biophys. Res. Commun.360(3), 696–701 (2007).
  • Wu Z, You Z, Zhang C et al. Association between functional polymorphisms of Foxp3 gene and the occurrence of unexplained recurrent spontaneous abortion in a Chinese Han population. Clin. Dev. Immunol.2012, 896458 (2012).
  • Ivanov PD, Komsa-Penkova RS, Konova EI et al. Polymorphism A1/A2 in the cell surface integrin subunit β3 and disturbance of implantation and placentation in women with recurrent pregnancy loss. Fertil. Steril.94(7), 2843–2845 (2010).
  • Amani D, Ravangard F, Niikawa N et al. Coding region polymorphisms in the indoleamine 2,3-dioxygenase (INDO) gene and recurrent spontaneous abortion. J. Reprod. Immunol.88(1), 42–47 (2011).
  • Penzes M, Rajczy K, Gyodi E, Reti M, Feher E, Petranyi G. HLA-G gene polymorphism in the normal population and in recurrent spontaneous abortion in Hungary. Trans. Proc.31, 1832–1833 (1999).
  • Yamashita T, Fujii T, Tokunaga K et al. Analysis of human leukocyte antigen-G polymorphism including intron 4 in Japanese couples with habitual abortion. Am. J. Reprod. Immunol.41, 159–163 (1999).
  • Ober C, Aldrich CL, Chervoneva I et al. Variation in the HLA-G promoter region influences miscarriage rates. Am. J. Hum. Genet.72, 1425–1435 (2003).
  • Hviid TV, Hylenius S, Lindhard A, Christiansen OB. Association between human leukocyte antigen-G genotype and success of in vitro fertilization and pregnancy outcome. Tissue Antigens64, 66–69 (2004).
  • Hviid TV. HLA-G in human reproduction: aspects of genetics, function and pregnancy complications. Hum. Reprod. Update12, 209–232 (2006).
  • Jeon YJ, Kim JH, Rah H et al. Vascular endothelial growth factor gene polymorphisms in spontaneously aborted fetuses. Am. J. Reprod. Immunol.66(6), 544–553 (2011).
  • Bagheri M, Rad IA, Omrani MD, Nanbaksh F. The Val34Leu genetic variation in the A subunit of coagulation Factor XIII in recurrent spontaneous abortion. Syst. Biol. Reprod. Med.57(5), 261–264 (2011).
  • Ivanov P, Komsa-Penkova R, Ivanov I et al. Plasminogen activator inhibitor type 1 activity in women with unexplained very early recurrent pregnancy loss. Akush. Ginekol.49(5), 3–8 (2010).
  • Su MT, Lin SH, Lee IW, Chen YC, Kuo PL. Association of polymorphisms/haplotypes of the genes encoding vascular endothelial growth factor and its KDR receptor with recurrent pregnancy loss. Hum. Reprod.26(4), 758–764 (2011).
  • Seremak-Mrozikiewicz A, Drews K, Kurzawinska G, Bogacz A, Grzeskowiak E, Mrozikiewicz PM. The significance of 1793G>A polymorphism in MTHFR gene in women with first trimester recurrent miscarriages. Neu. Endocrinol. Lett.31(5), 717–723 (2010).
  • Ticconi C, Mancinelli F, Gravina P, Federici G, Piccione E, Bernardini S. β-fibrinogen G-455A polymorphisms and recurrent miscarriage. Gynecol. Obstet. Invest.71(3), 198–201 (2010).
  • Eller AG, Branch DW, Nelson L, Porter TF, Silver RM. Vascular endothelial growth factor-A gene polymorphisms in women with recurrent pregnancy loss. J. Reprod. Immunol.88(1), 48–52 (2011).
  • Pruner I, Djordjevic V, Miljic P et al. +1040 C/T polymorphism in coding region of thrombin-activatable fibrinolysis inhibitor gene and the risk of idiopathic recurrent fetal loss. Blood Coagul. Fibrinolysis21(7), 679–682 (2010).
  • Jeddi-Tehrani M, Torabi R, Mohammadzadeh A et al. Investigating association of three polymorphisms of coagulation Factor XIII and recurrent pregnancy loss. Am. J. Reprod. Immunol.64(3), 212–217 (2010).
  • Crişan TO, Trifa A, Farcaş M et al. The MTHFD1 c.1958 G>A polymorphism and recurrent spontaneous abortions. J. Matern. Fetal Neonatal Med.24(1), 189–192 (2011).
  • Mukhopadhyay R, Saraswathy KN, Ghosh PK. MTHFR C677T and Factor V Leiden in recurrent pregnancy loss: a study among an endogamous group in North India. Genet. Test Mol. Biomarkers13(6), 861–865 (2009).
  • Goodman C, Hur J, Goodman CS, Jeyendran RS, Coulam C. Are polymorphisms in the ACE and PAI-1 genes associated with recurrent spontaneous miscarriages? Am. J. Reprod. Immunol.62(6), 365–370 (2009).
  • Agarwal M, Parveen F, Faridi RM, Phadke SR, Das V, Agrawal S. Recurrent pregnancy loss and apolipoprotein E gene polymorphisms: a case–control study from north India. Am. J. Reprod. Immunol.64(3), 172–178 (2010).
  • Goodman C, Goodman CS, Hur J, Jeyendran RS, Coulam C. The association of Apoprotein E polymorphisms with recurrent pregnancy loss. Am. J. Reprod. Immunol.61(1), 34–38 (2009).
  • Dawood F, Mountford R, Farquharson R, Quenby S. Genetic polymorphisms on the Factor V gene in women with recurrent miscarriage and acquired APCR. Hum. Reprod.22(9), 2546–2553 (2007).
  • Choi YS, Kwon H, Kim JH et al. Haplotype-based association of ACE I/D, AT1R 1166A>C, and AGT M235T polymorphisms in renin–angiotensin–aldosterone system genes in Korean women with idiopathic recurrent spontaneous abortions. Eur. J. Obstet. Gynecol. Reprod. Biol.158(2), 225–228 (2011).
  • Ntostis P, Peraki O, Boulgari A, Agiannitopoulos K, Pantos K, Lamnissou K. Genetic variation in the HSD3B1 gene and recurrent spontaneous abortions. J. Matern. Fetal. Neonatal. Med.25(4), 408–410 (2011).
  • Pereza N, Ostojić S, Volk M, Maver A, Kapović M, Peterlin B. The insulin-like growth factor 2 receptor gene Gly1619Arg polymorphism and idiopathic recurrent spontaneous abortion. J. Matern. Fetal. Neonatal. Med.25(4), 429–431 (2011).
  • Galazios G, Papazoglou D, Zografou C, Maltezos E, Liberis V. α2B-adrenergic receptor insertion/deletion polymorphism in women with spontaneous recurrent abortions. J. Obstet. Gynaecol. Res.37(2), 108–111 (2011).
  • Su MT, Lin SH, Lee IW, Chen YC, Hsu CC, Pan HA. Polymorphisms of endocrine gland-derived vascular endothelial growth factor gene and its receptor genes are associated with recurrent pregnancy loss. Hum. Reprod.25(11), 2923–2930 (2010).
  • Bagheri M, Abdi Rad I, Omrani MD, Nanbaksh F. Polymorphisms of the angiotensin converting enzyme gene in Iranian Azeri Turkish women with unexplained recurrent pregnancy loss. Hum. Fertil.13(2), 79–82 (2010).
  • Litridis I, Kapnoulas N, Natisvili T, Agiannitopoulos K, Peraki O, Ntostis P. Genetic variation in the CYP17 gene and recurrent spontaneous abortions. Arch. Gynecol. Obstet.283(2), 289–293 (2011).
  • Finan RR, Mustafa FE, Al-Zaman I, Madan S, Issa AA, Almawi WY. STAT3 polymorphisms linked with idiopathic recurrent miscarriages. Am. J. Reprod. Immunol.63(1), 22–27 (2010).
  • Choudhury SR, Knapp LA. Human reproductive failure II: immunogenetic and interacting factors. Hum. Reprod. Update7, 135–160 (2001).

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