Association of miR-146aC>G, miR-196a2T>C, and miR-499A>G polymorphisms with risk of premature ovarian failure in Korean women

Reproductive Sciences

Volumn 20, Issue 1, 2013, Pages 60-68

  Rah, Hyungchul ^a   Jeon, Young Joo ^a   Shim, Sung Han ^a   Cha, Sun Hee ^a   Choi, Dong Hee ^a   Kwon, Hwang ^a   Kim, Ji Hyang ^a   Shin, Ji Eun ^a   Kim, Nam Keun ^a  

^a CHA University   (South Korea)

Author keywords

microRNA; premature ovarian failure; primary ovarian insufficiency; single nucleotide polymorphism

Indexed keywords

MICRORNA; MICRORNA 146A; MICRORNA 196A2; MICRORNA 499; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CONTROLLED STUDY; FEMALE; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MULTIFACTOR DIMENSIONALITY REDUCTION; POLYMERASE CHAIN REACTION; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH KOREA;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MICRORNAS; POLYMORPHISM, SINGLE NUCLEOTIDE; PRIMARY OVARIAN INSUFFICIENCY; REPUBLIC OF KOREA; RISK FACTORS; YOUNG ADULT;

EID: 84870564116     PISSN: 19337191     EISSN: 19337205     Source Type: Journal    
DOI: 10.1177/1933719112450341     Document Type: Article

References (75)

1. Lewis BP, Burge CB, Bartel DP. Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets. Cell. 2005 ; 120 (1). 15-20
2. Ambros V. The functions of animal microRNAs. Nature. 2004 ; 431 (7006). 350-355
3. Bartel DP, Chen CZ. Micromanagers of gene expression: the potentially widespread influence of metazoan microRNAs. Nat Rev Genet. 2004 ; 5 (5). 396-400
4. Lund E, Guttinger S, Calado A, Dahlberg JE, Kutay U. Nuclear export of microRNA precursors. Science. 2004 ; 303 (5654). 95-98
5. Zamore PD, Haley B. Ribo-gnome: the big world of small RNAs. Science. 2005 ; 309 (5740). 1519-1524
6. O'Toole AS, Miller S, Haines N, Zink MC, Serra MJ. Comprehensive thermodynamic analysis of 3' double-nucleotide overhangs neighboring Watson-Crick terminal base pairs. Nucleic Acids Res. 2006 ; 34 (11). 3338-3344
7. Toloubeydokhti T, Bukulmez O, Chegini N. Potential regulatory functions of microRNAs in the ovary. Semin Reprod Med. 2008 ; 26 (6). 469-478
8. Jeon YJ, Choi YS, Rah H, et al. Association study of microRNA polymorphisms with risk of idiopathic recurrent spontaneous abortion in Korean women. Gene. 2012 ; 494 (2). 168-173
9. Albertini DF, Barrett SL. Oocyte-somatic cell communication. Reprod Suppl. 2003 ; 61: 49-54
10. Assou S, Anahory T, Pantesco V, et al. The human cumulus-oocyte complex gene-expression profile. Hum Reprod. 2006 ; 21 (7). 1705-1719
11. Murchison EP, Stein P, Xuan Z, et al. Critical roles for Dicer in the female germline. Genes Dev. 2007 ; 21 (6). 682-693
12. Tang F, Kaneda M, O'Carroll D, et al. Maternal microRNAs are essential for mouse zygotic development. Genes Dev. 2007 ; 21 (6). 644-648
13. Hong X, Luense LJ, McGinnis LK, Nothnick WB, Christenson LK. Dicer1 is essential for female fertility and normal development of the female reproductive system. Endocrinology. 2008 ; 149 (12). 6207-6212
14. Nagaraja AK, Andreu-Vieyra C, Franco HL, et al. Deletion of Dicer in somatic cells of the female reproductive tract causes sterility. Mol Endocrinol. 2008 ; 22 (10). 2336-2352
15. Lei L, Jin S, Gonzalez G, Behringer RR, Woodruff TK. The regulatory role of Dicer in folliculogenesis in mice. Mol Cell Endocrinol. 2010 ; 315 (1-2). 63-73
16. Medeiros LA, Dennis LM, Gill ME, et al. Mir-290-295 deficiency in mice results in partially penetrant embryonic lethality and germ cell defects. Proc Natl Acad Sci U S A. 2011 ; 108 (34). 14163-14168
17. Legro RS, Barnhart HX, Schlaff WD, et al. Clomiphene, metformin, or both for infertility in the polycystic ovary syndrome. N Engl J Med. 2007 ; 356 (6). 551-566
18. Dumesic DA, Abbott DH. Implications of polycystic ovary syndrome on oocyte development. Semin Reprod Med. 2008 ; 26 (1). 53-61
19. Wood JR, Dumesic DA, Abbott DH, Strauss JF. Molecular abnormalities in oocytes from women with polycystic ovary syndrome revealed by microarray analysis. J Clin Endocrinol Metab. 2007 ; 92 (2). 705-713
20. Hughes C, Elgasim M, Layfield R, Atiomo W. Genomic and post-genomic approaches to polycystic ovary syndrome-progress so far: mini review. Hum Reprod. 2006 ; 21 (11). 2766-2775
21. He A, Zhu L, Gupta N, Chang Y, Fang F. Overexpression of micro ribonucleic acid 29, highly up-regulated in diabetic rats, leads to insulin resistance in 3T3-L1 adipocytes. Mol Endocrinol. 2007 ; 21 (11). 2785-2794
22. Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol. 1986 ; 67 (4). 604-606
23. Rebar RW, Connolly HV. Clinical features of young women with hypergonadotropic amenorrhea. Fertil Steril. 1990 ; 53 (5). 804-810
24. Conway GS. Premature ovarian failure. Br Med Bull. 2000 ; 56 (3). 643-649
25. Nelson LM.. Clinical practice. Primary ovarian insufficiency. N Engl J Med. 2009 ; 360 (6). 606-614
26. Goswami D, Conway GS. Premature ovarian failure. Hum Reprod Update. 2005 ; 11 (4). 391-410
27. Abd El Naby WS, Hagos TH, Hossain MM, et al. Expression analysis of regulatory microRNAs in bovine cumulus oocyte complex and preimplantation embryos. Zygote. 2011 ;: 1-21
28. Suzuki Y, Kim HW, Ashraf M, Haider H. Diazoxide potentiates mesenchymal stem cell survival via NF-kappaB-dependent miR-146a expression by targeting Fas. Am J Physiol Heart Circ Physiol. 2010 ; 299 (4). H1077-1082
29. Jose de los Santos M, Anderson DJ, Racowsky C, Hill JA. Presence of Fas-Fas ligand system and bcl-2 gene products in cells and fluids from gonadotropin-stimulated human ovaries. Biol Reprod. 2000 ; 63 (6). 1811-1816
30. Reynaud K, Driancourt M.A. Oocyte attrition. Mol Cell Endocrinol. 2000 ; 163 (1-2). 101-108
31. Tripurani SK, Lee KB, Wee G, Smith GW, Yao J. MicroRNA-196a regulates bovine newborn ovary homeobox gene (NOBOX) expression during early embryogenesis. BMC Dev Biol. 2011 ; 11: 25
32. Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A. NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet. 2007 ; 81 (3). 576-581
33. Reddy A, Zheng Y, Jagadeeswaran G, et al. Cloning, characterization and expression analysis of porcine microRNAs. BMC Genomics. 2009 ; 10: 65
34. Landgraf P, Rusu M, Sheridan R, et al. A mammalian microRNA expression atlas based on small RNA library sequencing. Cell. 2007 ; 129 (7). 1401-1414
35. Hu Z, Liang J, Wang Z, et al. Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women. Hum Mutat. 2009 ; 30 (1). 79-84
36. Oktay K, Kim JY, Barad D, Babayev SN. Association of BRCA1 mutations with occult primary ovarian insufficiency: a possible explanation for the link between infertility and breast/ovarian cancer risks. J Clin Oncol. 2010 ; 28 (2). 240-244
37. Choi DH, Kim EK, Kim KH, et al. Expression pattern of endothelin system components and localization of smooth muscle cells in the human pre-ovulatory follicle. Hum Reprod. 2011 ; 26 (5). 1171-1180
38. Hu Z, Chen J, Tian T, et al. Genetic variants of miRNA sequences and non-small cell lung cancer survival. J Clin Invest. 2008 ; 118 (7). 2600-2608
39. Gauderman WJ. Sample size requirements for association studies of gene-gene interaction. Am J Epidemiol. 2002 ; 155 (5). 478-484
40. Gauderman WJ. Sample size requirements for matched case-control studies of gene-environment interaction. Stat Med. 2002 ; 21 (1). 35-50
41. Hahn LW, Ritchie MD, Moore JH. Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions. Bioinformatics. 2003 ; 19 (3). 376-382
42. Moore JH, Williams SM. New strategies for identifying gene-gene interactions in hypertension. Ann Med. 2002 ; 34 (2). 88-95
43. Ritchie MD, Hahn LW, Roodi N, et al. Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am J Hum Genet. 2001 ; 69 (1). 138-147
44. Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc Ser B Stat Methodol. 1995 ; 57 (1). 289-300
45. Curry E, Safranski TJ, Pratt SL. Differential expression of porcine sperm microRNAs and their association with sperm morphology and motility. Theriogenology. 2011 ; 76 (8). 1532-1539
46. He Z, Kokkinaki M, Pant D, Gallicano GI, Dym M. Small RNA molecules in the regulation of spermatogenesis. Reproduction. 2009 ; 137 (6). 901-911
47. Papaioannou MD. Nef S. microRNAs in the testis: building up male fertility. J Androl. 2010 ; 31 (1). 26-33
48. Wang C, Yang C, Chen X, et al. Altered profile of seminal plasma microRNAs in the molecular diagnosis of male infertility. Clin Chem. 2011 ; 57 (12). 1722-1731
49. Zhang H, Liu Y, Su D, et al. A single nucleotide polymorphism in a miR-1302 binding site in CGA increases the risk of idiopathic male infertility. Fertil Steril. 2011 ; 96 (1). 34-39
50. Hoffman AE, Zheng T. Yi C, et al. microRNA miR-196a-2 and breast cancer: a genetic and epigenetic association study and functional analysis. Cancer Res. 2009 ; 69 (14). 5970-5977
51. Min KT, Kim JW, Jeon YJ, et al. Association of the miR-146aC>G, 149C>T, 196a2C>T, and 499A>G polymorphisms with colorectal cancer in the Korean population. Mol Carcinog. 2011 ;:
52. Ryan BM, Robles AI, Harris CC. Genetic variation in microRNA networks: the implications for cancer research. Nat Rev Cancer. 2010 ; 10 (6). 389-402
53. Tian T, Shu Y, Chen J, et al. A functional genetic variant in microRNA-196a2 is associated with increased susceptibility of lung cancer in Chinese. Cancer Epidemiol Biomarkers Prev. 2009 ; 18 (4). 1183-1187
54. Xu J, Hu Z, Xu Z, et al. Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population. Hum Mutat. 2009 ; 30 (8). 1231-1236
55. Kaput J, Dawson K. Complexity of type 2 diabetes mellitus data sets emerging from nutrigenomic research: a case for dimensionality reduction?. Mutat Res. 2007 ; 622 (1-2). 19-32
56. Nakahara K, Carthew RW. Expanding roles for miRNAs and siRNAs in cell regulation. Curr Opin Cell Biol. 2004 ; 16 (2). 127-133
57. Sonkoly E, Stahle M, Pivarcsi A. MicroRNAs: novel regulators in skin inflammation. Clin Exp Dermatol. 2008 ; 33 (3). 312-315
58. Taganov KD, Boldin MP, Chang KJ, Baltimore D. NF-kappaB-dependent induction of microRNA miR-146, an inhibitor targeted to signaling proteins of innate immune responses. Proc Natl Acad Sci U S A. 2006 ; 103 (33). 12481-12486
59. Bridgham JT, Johnson AL. Expression and regulation of Fas antigen and tumor necrosis factor receptor type I in hen granulosa cells. Biol Reprod. 2001 ; 65 (3). 733-739
60. Hussein MR. Apoptosis in the ovary: molecular mechanisms. Hum Reprod Update. 2005 ; 11 (2). 162-177
61. Hussein MR, Haemel AK. Wood GS. p53-related pathways and the molecular pathogenesis of melanoma. Eur J Cancer Prev. 2003 ; 12 (2). 93-100
62. Suzumori N, Yan C, Matzuk MM, Rajkovic A. Nobox is a homeobox-encoding gene preferentially expressed in primordial and growing oocytes. Mech Dev. 2002 ; 111 (1-2). 137-141
63. Rajkovic A, Pangas SA, Ballow D, Suzumori N, Matzuk MM. NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression. Science. 2004 ; 305 (5687). 1157-1159
64. Sluijter JP, van Mil A, van Vliet P, et al. MicroRNA-1 and -499 regulate differentiation and proliferation in human-derived cardiomyocyte progenitor cells. Arterioscler Thromb Vasc Biol. 2010 ; 30 (4). 859-868
65. Murakami A, Ishida S, Thurlow J, Revest JM, Dickson C. SOX6 binds CtBP2 to repress transcription from the Fgf-3 promoter. Nucleic Acids Res. 2001 ; 29 (16). 3347-3355
66. Jakobovits A, Shackleford GM, Varmus HE, Martin GR. Two proto-oncogenes implicated in mammary carcinogenesis, int-1 and int-2, are independently regulated during mouse development. Proc Natl Acad Sci U S A. 1986 ; 83 (20). 7806-7810
67. Srivatsan ES, Misra BC, Venugopalan M, Wilczynski SP. Loss of heterozygosity for alleles on chromosome II in cervical carcinoma. Am J Hum Genet. 1991 ; 49 (4). 868-877
68. Naidu R, Wahab NA, Yadav M, Kutty MK, Nair S. Detection of amplified int-2/FGF-3 gene in primary breast carcinomas using differential polymerase chain reaction. Int J Mol Med. 2001 ; 8 (2). 193-198
69. Shalgi R, Lieber D, Oren M, Pilpel Y. Global and local architecture of the mammalian microRNA-transcription factor regulatory network. PLoS Comput Biol. 2007 ; 3 (7). e131
70. Sober S, Laan M, Annilo T. MicroRNAs miR-124 and miR-135a are potential regulators of the mineralocorticoid receptor gene (NR3C2) expression. Biochem Biophys Res Commun. 2010 ; 391 (1). 727-732
71. Xu T, Zhu Y, Wei QK, et al. A functional polymorphism in the miR-146a gene is associated with the risk for hepatocellular carcinoma. Carcinogenesis. 2008 ; 29 (11). 2126-2131
72. Jazdzewski K, Murray EL, Franssila K, Jarzab B, Schoenberg DR, de la Chapelle A. Common SNP in pre-miR-146a decreases mature miR expression and predisposes to papillary thyroid carcinoma. Proc Natl Acad Sci U S A. 2008 ; 105 (20). 7269-7274
73. Vitiello D, Kodaman PH, Taylor HS. HOX genes in implantation. Semin Reprod Med. 2007 ; 25 (6). 431-436
74. Schimanski CC, Frerichs K, Rahman F, et al. High miR-196a levels promote the oncogenic phenotype of colorectal cancer cells. World J Gastroenterol. 2009 ; 15 (17). 2089-2096
75. Makker A, Goel MM, Das V, Anjoo A. PI3K-Akt-mTOR and MAPK signaling pathways in polycystic ovarian syndrome, uterine leiomyomas and endometriosis: an update. Gynecol Endocrinol. 2012 ; 28 (3). 175-181