Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection

Molecular Human Reproduction

Volumn 16, Issue 10, 2010, Pages 770-777

  Ucisik Akkaya, Esma ^a   Davis, Charronne F ^a   Do, Thuy N ^a   Morrison, Brittany A ^a   Stemmer, Shlomo M ^b   Amadio, William J ^c   Tevfik Dorak, M ^a  

^a HUMIGEN LLC   (United States)

^b Medical Diagnostic Laboratories LLC   (United States)

^c RIDER UNIVERSITY   (United States)

Author keywords

Genetic association study; Prenatal embryo loss; Prenatal genetic selection; Sex effect; Single nucleotide polymorphism

Indexed keywords

ARTICLE; EMBRYO DEATH; FEMALE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SELECTION; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HLA SYSTEM; HOMOZYGOSITY; HUMAN; MALE; NEWBORN; PRENATAL PERIOD; PRIORITY JOURNAL; SEX DETERMINATION; SINGLE NUCLEOTIDE POLYMORPHISM;

ABORTION, SPONTANEOUS; CATION TRANSPORT PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HLA-DQ ANTIGENS; HLA-DR ANTIGENS; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MULTIVARIATE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-MDM2; RIBONUCLEOSIDE DIPHOSPHATE REDUCTASE; SERINE ENDOPEPTIDASES; SEX FACTORS;

EID: 77956864038     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gaq047     Document Type: Article

References (60)

1. Bergeron RJ. Iron: a controlling nutrient in proliferative processes. Trends Biochem Sci 1986;11:133-136.
2. Boklage CE. Survival probability of human conceptions from fertilization to term. Int J Fertil 1990;35:75. 79-80, 81-94.
3. Bombell S, McGuire W. Cytokine polymorphisms in women with recurrent pregnancy loss: meta-analysis. Aust N Z J Obstet Gynaecol 2008;48:147-154.
4. Braude P. Preimplantation diagnosis for genetic susceptibility. N Engl J Med 2006;355:541-543.
5. Brown S. Miscarriage and its associations. Semin Reprod Med 2008; 26:391-400.
6. Byrne J, Warburton D. Male excess among anatomically normal fetuses in spontaneous abortions. Am J Med Genet 1987;26:605-611.
7. Choi YK, Kwak-Kim J. Cytokine gene polymorphisms in recurrent spontaneous abortions: a comprehensive review. Am J Reprod Immunol 2008;60:91-110.
8. Choudhury SR, Knapp LA. Human reproductive failure I: immunological factors. Hum Reprod Update 2001a;7:113-134.
9. Choudhury SR, Knapp LA. Human reproductive failure II: immunogenetic and interacting factors. Hum Reprod Update 2001b;7:135-160.
10. Cochery-Nouvellon E, Nguyen P, Attaoua R, Cornillet-Lefebvre P, Mercier E, Vitry F, Gris JC. Interleukin 10 gene promoter polymorphisms in women with pregnancy loss: preferential association with embryonic wastage. Biol Reprod 2009;80:1115-1120.
11. Denschlag D, Marculescu R, Unfried G, Hefler LA, Exner M, Hashemi A, Riener EK, Keck C, Tempfer CB, Wagner O. The size of a microsatellite polymorphism of the haem oxygenase 1 gene is associated with idiopathic recurrent miscarriage. Mol Hum Reprod 2004;10:211-214.
12. Dorak MT, Lawson T, Machulla HK, Mills KI, Burnett AK. Increased heterozygosity for MHC class II lineages in newborn males. Genes Immun 2002;3:263-269.
13. Dorak MT, Shao W, Machulla HK, Lobashevsky ES, Tang J, Park MH, Kaslow RA. Conserved extended haplotypes of the major histocompatibility complex: further characterization. Genes Immun 2006;7:450-467.
14. Dorak MT, Mackay RK, Relton CL, Worwood M, Parker L, Hall AG. Hereditary hemochromatosis gene (HFE) variants are associated with birth weight and childhood leukemia risk. Pediatric Blood Cancer 2009; 53:1242-1248.
15. Drife JO. What proportion of pregnancies are spontaneously aborted? Br Med J 1983;286:294-294.
16. Escobar-Morreale HF, Calvo RM, Sancho J, San Millan JL. TNF-alpha and hyperandrogenism: a clinical, biochemical, and molecular genetic study. J Clin Endocrinol Metab 2001;86:3761-3767.
17. ESHRE Capri Workshop Group. Genetic aspects of female reproduction. Hum Reprod Update 2008;14:293-307.
18. Fidler AT, Bernstein J. Infertility: from a personal to a public health problem. Public Health Rep 1999;114:494-511.
19. Geraedts JP, De Wert GM. Preimplantation genetic diagnosis. Clin Genet 2009;76:315-325.
20. Hassold T, Quillen ST, Yamane JA. Sex ratio in spontaneous abortions. Ann Hum Genet 1983;47:39-47.
21. Healey CS, Dunning AM, Teare MD, Chase D, Parker L, Burn J, Chang-Claude J, Mannermaa A, Kataja V, Huntsman DG et al. A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. Nat Genet 2000;26:362-364.
22. Hillier SG. Research challenge: what is the best non-invasive test of oocyte/embryo competence? Mol Hum Reprod 2008;14:665.
23. Horton R, Wilming L, Rand V, Lovering RC, Bruford EA, Khodiyar VK, Lush MJ, Povey S, Talbot CC, Wright MW et al. Gene map of the extended human MHC. Nat Rev Genet 2004;5:889-899.
24. Hu W, Feng Z, Atwal GS, Levine AJ. p53: a new player in reproduction. Cell Cycle 2008;7:848-852.
25. Ingemarsson I. Gender aspects of preterm birth. BJOG 2003;110(Suppl. 20):34-38.
26. Jongbloet PH. Fetal sex and very preterm birth. Am J Obstet Gynecol 2005; 193:302.
27. Kang HJ, Feng Z, Sun Y, Atwal G, Murphy ME, Rebbeck TR, Rosenwaks Z, Levine AJ, Hu W. Single-nucleotide polymorphisms in the p53 pathway regulate fertility in humans. Proc Natl Acad Sci USA 2009;106:9761-9766.
28. KantarciOH,HebrinkDD, Schaefer-Klein J, Sun Y, Achenbach S, Atkinson EJ, Heggarty S, Cotleur AC, de Andrade M, Vandenbroeck K et al. Interferon gamma allelic variants: sex-biased multiple sclerosis susceptibility and gene expression. Arch Neurol 2008;65:349-357.
29. Kay C, Jeyendran RS, Coulam CB. p53 tumour suppressor gene polymorphism is associated with recurrent implantation failure. Reprod Biomed Online 2006;13:492-496.
30. Kellokumpu-Lehtinen P, Pelliniemi LJ. Sex ratio in human conceptuses. Obstet Gynecol 1984;64:220-222.
31. Kostyu DD. HLA: fertile territory for developmental genes? Crit Rev Immunol 1994;14:29-59.
32. Lee S, Takano K. Sex ratio in human embryos obtained from induced abortion: histological examination of the gonad in 1452 cases. Am J Obstet Gynecol 1970;108:1294-1296.
33. Lerner SP, Finch CE. The major histocompatibility complex and reproductive functions [Review]. Endocr Rev 1991;12:78-90.
34. Lewis CM. Genetic association studies: design, analysis and interpretation. Brief Bioinform 2002;3:146-153.
35. Mangelsdorf DJ, Borgmeyer U, Heyman RA, Zhou JY, Ong ES, Oro AE, Kakizuka A, Evans RM. Characterization of three RXR genes that mediate the action of 9-cis retinoic acid. Genes Dev 1992;6:329-344.
36. Marinoni JC, Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G, Seroz T, Gomez DM, Hoeijmakers JH, Egly JM. Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH. Embo J 1997;16:1093-1102.
37. McGregor JA, Leff M, Orleans M, Baron A. F. et al. gender differences in preterm birth: findings in a North American cohort. Am J Perinatol 1992;9:43-48.
38. McIntyre LM, Martin ER, Simonsen KL, Kaplan NL. Circumventing multiple testing: a multilocus Monte Carlo approach to testing for association. Genet Epidemiol 2000;19:18-29.
39. Ober C, van der Ven K. Immunogenetics of reproduction: an overview. Curr Top Microbiol Immunol 1997;222:1-23.
40. Ober C, Elias S, Kostyu DD, Hauck WW. Decreased fecundability in Hutterite couples sharing HLA-DR. Am J Hum Genet 1992;50:6-14.
41. Roberts CJ, Lowe CR. Where have all the conceptions gone? Lancet 1975; 1:498-499.
42. Rousset F, Raymond M. Statistical analyses of population genetic data: new tools, old concepts. Trends Ecol Evol 1997;12:313-317.
43. Saijo Y, Sata F, Yamada H, Kondo T, Kato EH, Kishi R. Single nucleotide polymorphisms in the promoter region of the interleukin-6 gene and the risk of recurrent pregnancy loss in Japanese women. Fertil Steril 2004;81:374-378.
44. Schmidt L. Effects of infertility insurance mandates on fertility. J Health Econ 2007;26:431-446.
45. Shang E, Wang X, Wen D, Greenberg DA, Wolgemuth DJ. Double bromodomain-containing gene Brd2 is essential for embryonic development in mouse. Dev Dyn 2009;238:908-917.
46. Shettles LB. Conception and birth sex ratios. Obstet Gynecol 1961; 18:122-130.
47. Sierra S, Stephenson M. Genetics of recurrent pregnancy loss. Semin Reprod Med 2006;24:17-24.
48. Smith GC. Sex, birth weight, and the risk of stillbirth in Scotland, 1980-1996. Am J Epidemiol 2000;151:614-619.
49. Steck T, Giess R, Suetterlin MW, Bolland M, Wiest S, Poehls UG, Dietl J. Leukaemia inhibitory factor (LIF) gene mutations in women with unexplained infertility and recurrent failure of implantation after IVF and embryo transfer. Eur J Obstet Gynecol Reprod Biol 2004;112:69-73.
50. Stevenson AC, Bobrow M. Determinants of Sex Proportions in Man, with Consideration of the Evidence Concerning a Contribution from X-linked Mutations to Intrauterine Death. J Med Genet 1967;4:190-221.
51. Teare MD, Cox A, Shorto J, Anderson C, Bishop DT, Cannings C. Heterozygote excess is repeatedly observed in females at the BRCA2 locus N372H. J Med Genet 2004;41:523-528.
52. Tripathi P, Naik S, Agrawal S. HLA-E and immunobiology of pregnancy. Tissue Antigens 2006;67:207-213.
53. Ucisik-Akkaya E, Dorak MT. A study of natural killer cell lectin-like receptor K1 gene (KLRK1/NKG2D) region polymorphisms in a European population sample. Tissue Antigens 2009;73:177-183.
54. Vatten LJ, Skjaerven R. Offspring sex and pregnancy outcome by length of gestation. Early Hum Dev 2004;76:47-54.
55. Villuendas G, San Millan JL, Sancho J, Escobar-Morreale HF. The -597 G->A and -174 G->C polymorphisms in the promoter of the IL-6 gene are associated with hyperandrogenism. J Clin Endocrinol Metab 2002;87:1134-1141.
56. Wacholder S, Chanock S, Garcia-Closas M, El Ghormli L, Rothman N. Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J Natl Cancer Inst 2004;96: 434-442.
57. Wendling O, Chambon P, Mark M. Retinoid X receptors are essential for early mouse development and placentogenesis. Proc Natl Acad Sci USA 1999;96:547-551.
58. Zeitlin J, Ancel PY, Larroque B, Kaminski M. Fetal sex and indicated very preterm birth: results of the EPIPAGE study. Am J Obstet Gynecol 2004; 190:1322-1325.
59. Zhai W, Nielsen R, Slatkin M. An investigation of the statistical power of neutrality tests based on comparative and population genetic data. Mol Biol Evol 2009;26:273-283.
60. Ziegler A, Kentenich H, Uchanska-Ziegler B. Female choice and the MHC. Trends Immunol 2005;26:496-502.