Genetics of age at menarche: A systematic review

Human Reproduction Update

Volumn 18, Issue 2, 2012, Pages 198-210

  Dvornyk, Volodymyr ^a   Waqar ul Haq, ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Age at menarche; Association study; Complex trait; Genetic variants; Linkage analysis

Indexed keywords

OSTEOCLAST DIFFERENTIATION FACTOR; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR KAPPA B;

CAUCASIAN; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC TRAIT; GENETICS; HEREDITY; HUMAN; MEDICAL RESEARCH; MEDLINE; MENARCHE; PRIORITY JOURNAL; PUBERTY; REVIEW; SYSTEMATIC REVIEW;

AGE OF ONSET; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MENARCHE; PHENOTYPE; POLYMORPHISM, GENETIC; PUBERTY; RANK LIGAND;

EID: 84857546191     PISSN: 13554786     EISSN: 14602369     Source Type: Journal    
DOI: 10.1093/humupd/dmr050     Document Type: Review

References (132)

1. Ambrosius WT, Lange EM, Langefeld CD. Power for genetic association studies with random allele frequencies and genotype distributions. Am J Hum Genet 2004; 74:683-693.
2. Andersen TI, Heimdal KR, Skrede M, Tveit K, Berg K, Borresen AL. Oestrogen receptor (ESR) polymorphisms and breast cancer susceptibility. Hum Genet 1994;94:665-670.
3. Anderson DM, Maraskovsky E, Billingsley WL, Dougall WC, Tometsko ME, Roux ER, Teepe MC, DuBose RF, Cosman D, Galibert L. A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function. Nature 1997;390:175-179.
4. Anderson SE, Dallal GE, Must A. Relative weight and race influence average age at menarche: results from two nationally representative surveys of US girls studied 25 years apart. Pediatrics 2003;111:844-850.
5. Anderson CA, Duffy DL, Martin NG, Visscher PM. Estimation of variance components for age at menarche in twin families. Behav Genet 2007;37:668-677.
6. Anderson CA, Zhu G, Falchi M, van den Berg SM, Treloar SA, Spector TD, Martin NG, Boomsma DI, Visscher PM, Montgomery GW. A genome-wide linkage scan for age at menarche in three populations of European descent. J Clin Endocrinol Metab 2008;93:3965-3970.
7. Arimoto T, Katagiri T, Oda K, Tsunoda T, Yasugi T, Osuga Y, Yoshikawa H, Nishii O, Yano T, Taketani Y et al. Genome-wide cDNA microarray analysis of gene-expression profiles involved in ovarian endometriosis. Int J Oncol 2003; 22:551-560.
8. Attia GR, Zeitoun K, Edwards D, Johns A, Carr BR, Bulun SE. Progesterone receptor isoform A but not B is expressed in endometriosis. J Clin Endocrinol Metab 2000; 85:2897-2902.
9. Bandini LG, Must A, Naumova EN, Anderson S, Caprio S, Spadano-Gasbarro JI, Dietz WH. Change in leptin, body composition and other hormones around menarche-a visual representation. Acta Paediatr 2008;97:1454-1459.
10. Beavan S, Prentice A, Dibba B, Yan L, Cooper C, Ralston SH. Polymorphism of the collagen type I a1 gene and ethnic differences in hip-fracture rates. N Engl J Med 1998;339:351-352.
11. Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008;40:695-701.
12. Boytsov S, van de Werf F. Regional challenges and opportunities in cardiovascular research: The Russian Federation 'SWOT' analysis. Am Heart J 2011; 161:427-430.
13. Bray M, Higgins JP, Ioannidis JP, Khoury MJ, Little J, Manolio TA, Smeeth T, Sterne J. (2006) The HuGENet™ HuGE Review Handbook, version 1.0., http://www.hugenet.ca (28 February 2006, date last accessed).
14. Brisken C, Heineman A, Chavarria T, Elenbaas B, Tan J, Dey SK, McMahon JA, McMahon AP, Weinberg RA. Essential function of Wnt-4 in mammary gland development downstream of progesterone signaling. Genes Dev 2000; 14:650-654.
15. Campbell CD, Ogburn EL, Lunetta KL, Lyon HN, Freedman ML, Groop LC, Altshuler D, Ardlie KG, Hirschhorn JN. Demonstrating stratification in a European American population. Nat Genet 2005;37:868-872.
16. Chavarro J, Villamor E, Narvaez J, Hoyos A. Socio-demographic predictors of age at menarche in a group of Colombian university women. Ann Hum Biol 2004; 31:245-257.
17. Chie WC, Liu YH, Chi J, Wu V, Chen A. Predictive factors for early menarche in Taiwan. J Formos Med Assoc 1997;96:446-450.
18. Chumlea WC, Schubert CM, Roche AF, Kulin HE, Lee PA, Himes JH, Sun SS. Age at menarche and racial comparisons in US girls. Pediatrics 2003;111:110-113.
19. Comings DE, Gade R, Muhleman D, Peters WR, MacMurray JP. The LEP gene and age of menarche: maternal age as a potential cause of hidden stratification in association studies. Mol Genet Metab 2001;73:204-210.
20. Cooper GS, Ephross SA, Weinberg CR, Baird DD, Whelan EA, Sandler DP. Menstrual and reproductive risk factors for ischemic heart disease. Epidemiology 1999;10:255-259.
21. Cui Y, Li G, Li S, Wu R. Designs for linkage analysis and association studies of complex diseases. Methods Mol Biol 2010;620:219-242.
22. de Bruin JP, Bovenhuis H, van Noord PA, Pearson PL, van Arendonk JA, Velde ER, Kuurman WW, Dorland M. The role of genetic factors in age at natural menopause. Hum Reprod 2001;16:2014-2018.
23. Do KA, Treloar SA, Pandeya N, Purdie D, Green AC, Heath AC, Martin NG. Predictive factors of age at menopause in a large Australian twin study. Hum Biol 1998;70:1073-1091.
24. Dvornyk V, Liu H, Shen H, Lei SF, Zhao L, Huang QR, Qin Y, Jiang DK, Long J, Zhang Y et al. Differentiation of Caucasians and Chinese at bone mass candidate genes: implication for ethnic difference of bone mass. Ann Hum Genet 2003;67:216-227.
25. Dvornyk V, Xiao P, Liu YJ, Shen H, Deng HW. Systemic approach to the study of complex bone disorders at the whole-genome level. Curr Genomics 2004;5:93-108.
26. Dvornyk V, Long JR, Liu PY, Zhao LJ, Shen H, Recker RR, Deng HW. Predictive factors for age at menopause in Caucasian females. Maturitas 2006;54:19-26.
27. Dvornyk V, Liu Y, Lu Y, Shen H, Lappe JM, Lei S, Recker RR, Deng H. Effect of menopause on gene expression profiles of circulating monocytes: a pilot in vivo microarray study. J Genet Genomics 2007;34:974-983.
28. Elks CE, Perry JR, Sulem P, Chasman DI, Franceschini N, He C, Lunetta KL, Visser JA, Byrne EM, Cousminer DL et al. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet 2010;42:1077-1085.
29. Ettinger SL, Sobel R, Whitmore TG, Akbari M, Bradley DR, Gleave ME, Nelson CC. Dysregulation of sterol response element-binding proteins and downstream effectors in prostate cancer during progression to androgen independence. Cancer Res 2004;64:2212-2221.
30. Feigelson HS, Coetzee GA, Kolonel LN, Ross RK, Henderson BE. A polymorphism in the CYP17 gene increases the risk of breast cancer. Cancer Res 1997; 57:1063-1065.
31. Feng Y, Hong X, Wilker E, Li Z, Zhang W, Jin D, Liu X, Zang T, Xu X, Xu X. Effects of age at menarche, reproductive years, and menopause on metabolic risk factors for cardiovascular diseases. Atherosclerosis 2008;196:590-597.
32. Frazer KA, Murray SS, Schork NJ, Topol EJ. Human genetic variation and its contribution to complex traits. Nat Rev Genet 2009;10:241-251.
33. Fujita M, Tase T, Kakugawa Y, Hoshi S, Nishino Y, Nagase S, Ito K, Niikura H, Yaegashi N, Minami Y. Smoking, earlier menarche and low parity as independent risk factors for gynecologic cancers in Japanese: a case-control study. Tohoku J Exp Med 2008;216:297-307.
34. Garnick MB. Redefining the refined retroperitoneal lymph node dissection in testis cancer: a SWOT analysis of nonrandomized data. J Clin Oncol 2007; 25:4337-4338.
35. Gomez-Santos C, Hernandez-Morante JJ, Margareto J, Larrarte E, Formiguera X, Martinez CM, Garaulet M. Profile of adipose tissue gene expression in premenopausal and postmenopausal women: site-specific differences. Menopause 2011;18:675-684.
36. Gorai I, Tanaka K, Inada M, Morinaga H, Uchiyama Y, Kikuchi R, Chaki O, Hirahara F. Estrogen-metabolizing gene polymorphisms, but not estrogen receptor-a gene polymorphisms, are associated with the onset of menarche in healthy postmenopausal Japanese women. J Clin Endocrinol Metab, 2003; 88:799-803.
37. Gorlov IP, Gorlova OY, Frazier ML, Spitz MR, Amos CI. Evolutionary evidence of the effect of rare variants on disease etiology. Clin Genet 2011;79:199-206.
38. Graber JA, Brooks-Gunn J, Warren MP. The antecedents of menarcheal age: heredity, family environment, and stressful life events. Child Dev 1995; 66:346-359.
39. Graham MJ, Larsen U, Xu X. Secular trend in age at menarche in China: a case study of two rural counties in Anhui Province. J Biosoc Sci 1999;31:257-267.
40. Grimm C, Tempfer CB, Walch K, Reinthaller A, Tomovski C, Huber JC, Leodolter S, Hefler LA. The influence of a vitamin D receptor gene polymorphism on the timing of female reproductive functions in humans. Maturitas, 2005;51:135-139.
41. Guo Y, Zhao LJ, Shen H, Guo Y, Deng HW. Genetic and environmental correlations between age at menarche and bone mineral density at different skeletal sites. Calcif Tissue Int 2005;77:356-360.
42. Guo Y, Shen H, Xiao P, Xiong DH, Yang TL, Guo YF, Long JR, Recker RR, Deng HW. Genomewide linkage scan for quantitative trait loci underlying variation in age at menarche. J Clin Endocrinol Metab 2006a;91:1009-1014.
43. Guo Y, Xiong DH, Yang TL, Guo YF, Recker RR, Deng HW. Polymorphisms of estrogen-biosynthesis genes CYP17 and CYP19 may influence age at menarche: a genetic association study in Caucasian females. Hum Mol Genet 2006b; 15:2401-2408.
44. Harlow BL, Signorello LB. Factors associated with early menopause. Maturitas 2000; 35:3-9.
45. Hattersley AT, McCarthy MI. What makes a good genetic association study? Lancet 2005;366:1315-1323.
46. He C, Kraft P, Chen C, Buring JE, Pare G, Hankinson SE, Chanock SJ, Ridker PM, Hunter DJ, Chasman DI. Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. Nat Genet 2009;41:724-728.
47. Herman-Giddens ME. The decline in the age of menarche in the United States: should we be concerned? J Adolesc Health 2007;40:201-203.
48. Herman-Giddens ME, Slora EJ, Wasserman RC, Bourdony CJ, Bhapkar MV, Koch GG, Hasemeier CM. Secondary sexual characteristics and menses in young girls seen in office practice: a study from the Pediatric Research in Office Settings network. Pediatrics 1997;99:505-512.
49. Ho NC, Jia L, Driscoll CC, Gutter EM, Francomano CA. A skeletal gene database. J Bone Miner Res 2000;15:2095-2122.
50. Hwang JY, Shin C, Frongillo EA, Shin KR, Jo I. Secular trend in age at menarche for South Korean women born between 1920 and 1986: the Ansan Study. Ann Hum Biol 2003;30:434-442.
51. Iles MM. What can genome-wide association studies tell us about the genetics of common disease? PLoS Genet 2008;4:e33.
52. Ioannidis JP, Trikalinos TA, Ntzani EE, Contopoulos-Ioannidis DG. Genetic associations in large versus small studies: an empirical assessment. Lancet 2003; 361:567-571.
53. Ioannidis JP, Boffetta P, Little J, O'Brien TR, Uitterlinden AG, Vineis P, Balding DJ, Chokkalingam A, Dolan SM, Flanders WD et al. Assessment of cumulative evidence on genetic associations: interim guidelines. Int J Epidemiol 2008; 37:120-132.
54. Irwin JC, Kirk D, Gwatkin RB, Navre M, Cannon P, Giudice LC. Human endometrial matrix metalloproteinase-2, a putative menstrual proteinase. Hormonal regulation in cultured stromal cells and messenger RNA expression during the menstrual cycle. J Clin Invest 1996;97:438-447.
55. Ito M, Yamada M, Hayashi K, Ohki M, Uetani M, Nakamura T. Relation of early menarche to high bone mineral density. Calcif Tissue Int 1995;57:11-14.
56. Iyengar SK, Elston RC. The genetic basis of complex traits: rare variants or 'common gene, common disease'?. Methods Mol Biol 2007;376:71-84.
57. Jackson FL. Human genetic variation and health: new assessment approaches based on ethnogenetic layering. Br Med Bull 2004;69:215-235.
58. Jiang Y, Han J, Liu J, Zhang G, Wang L, Liu F, Zhang X, Zhao Y, Pang D. Risk of genome-wide association study newly identified genetic variants for breast cancer in Chinese women of Heilongjiang Province. Breast Cancer Res Treat 2011;128:251-257.
59. Kaczmarek M. The timing of natural menopause in Poland and associated factors. Maturitas 2007;27:139-153.
60. Kaprio J, Rimpela A, Winter T, Viken RJ, Rimpela M, Rose RJ. Common genetic influences on BMI and age at menarche. Hum Biol 1995;67:739-753.
61. Kawase T, Matsuo K, Suzuki T, Hiraki A,Watanabe M, Iwata H, Tanaka H, Tajima K. FGFR2 intronic polymorphisms interact with reproductive risk factors of breast cancer: results of a case control study in Japan. Int J Cancer, 2009;125: 1946-1952.
62. Kotsopoulos J, Lubinski J, Lynch HT, Neuhausen SL, Ghadirian P, Isaacs C,Weber B, Kim-Sing C, Foulkes WD, Gershoni-Baruch R et al. Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Cancer Causes Contr, 2005;16:667-674.
63. Kulik-Rechberger B, Skorupski P, Bogusiewicz M, Miotla P, Rechberger T. Polimorfizm genu CYP17 a wiek menarche [Polymorhism of CYP17 gene and age of menarche]. Ginekol Pol 2007;78:929-932.
64. Lai J, Vesprini D, Chu W, Jernstrom H, Narod SA. CYP gene polymorphisms and early menarche. Mol Genet Metab 2001;74:449-457.
65. Lakshman R, Forouhi NG, Sharp SJ, Luben R, Bingham SA, Khaw KT, Wareham NJ, Ong KK. Early age at menarche associated with cardiovascular disease and mortality. J Clin Endocrinol Metab 2009;94:4953-4960.
66. Lee NH, Saeed AI. Microarrays: an overview. Methods Mol Biol 2007;353:265-300.
67. Lei SF, Deng FY, Liu XH, Huang QR, Qin Y, Zhou Q, Jiang DK, Li YM, Mo XY, Liu MY et al. Polymorphisms of four bone mineral density candidate genes in Chinese populations and the comparison with the other populations of different ethnicity. J Bone Miner Metab 2003;21:34-42.
68. Lei SF, Wu S, Dvornyk V, Deng HW. Two strategies to identify genes underlying complex diseases. Curr Genomics 2005;6:551-561.
69. Lin-Su K, Vogiatzi MG, New MI. Body mass index and age at menarche in an adolescent clinic population. Clin Pediatr 2002;41:501-507.
70. Liu YZ, Liu YJ, Recker RR, Deng HW. Molecular studies of identification of genes for osteoporosis: the 2002 update. J Endocrinol 2003;177:147-196.
71. Liu PY, Zhang YY, Lu Y, Long JR, Shen H, Zhao LJ, Xu FH, Xiao P, Xiong DH, Liu YJ et al. A survey of haplotype variants at several disease candidate genes: the importance of rare variants for complex diseases. J Med Genet 2005a;42:221-227.
72. Liu YZ, Dvornyk V, Lu Y, Shen H, Lappe JM, Recker RR, Deng HW. A novel pathophysiological mechanism for osteoporosis suggested by an in vivo gene expression study of circulating monocytes. J Biol Chem 2005b;280:29011-29016.
73. Liu YZ, Guo YF, Wang L, Tan LJ, Liu XG, Pei YF, Yan H, Xiong DH, Deng FY, Yu N et al. Genome-wide association analyses identify SPOCK as a key novel gene underlying age at menarche. PLoS Genet 2009;5:e1000420.
74. Liu PY, Lu Y, Recker RR, Deng HW, Dvornyk V. ALOX12 gene is associated with the onset of natural menopause in white women. Menopause 2010a;17:152-156.
75. Liu PY, Lu Y, Recker RR, Deng HW, Dvornyk V. Association analyses suggest multiple interaction effects of the methylenetetrahydrofolate reductase polymorphisms on timing of menarche and natural menopause in whites. Menopause 2010b;17:185-190.
76. Long JR, Xu H, Zhao LJ, Liu PY, Shen H, Liu YJ, Xiong DH, Xiao P, Liu YZ, Dvornyk V et al. The oestrogen receptor a gene is linked and/or associated with age of menarche in different ethnic groups. J Med Genet, 2005;42:796-800.
77. Lu Y, Liu P, Recker RR, Deng HW, Dvornyk V. TNFRSF11A and TNFSF11 are associated with age at menarche and natural menopause in white women. Menopause 2010;17:1048-1054.
78. Ma H, Bernstein L, Pike MC, Ursin G. Reproductive factors and breast cancer risk according to joint estrogen and progesterone receptor status: a meta-analysis of epidemiological studies. Breast Cancer Res 2006;8:R43.
79. Manuck SB, Craig AE, Flory JD, Halder I, Ferrell RE. Reported early family environment covaries with menarcheal age as a function of polymorphic variation in estrogen receptor-a. Dev Psychopathol 2011;23:69-83.
80. Marchini J, Cardon LR, Phillips MS, Donnelly P. The effects of human population structure on large genetic association studies. Nat Genet 2004;36:512-517.
81. Marshall LM, Spiegelman D, Goldman MB, Manson JE, Colditz GA, Barbieri RL, Stampfer MJ, Hunter DJ. A prospective study of reproductive factors and oral contraceptive use in relation to the risk of uterine leiomyomata. Fertil Steril 1998;70:432-439.
82. Matkovic V, Ilich JZ, Skugor M, Badenhop NE, Goel P, Clairmont A, Klisovic D, Nahhas RW, Landoll JD. Leptin is inversely related to age at menarche in human females. J Clin Endocrinol Metab 1997;82:3239-3245.
83. McKibben SL, Poston DL Jr. The influence of age at menarche on the fertility of Chinese women. Soc Biol 2003;50:222-237.
84. Miller MG. Environmental metabolomics: a SWOT analysis (strengths, weaknesses, opportunities, and threats). J Proteome Res 2007;6:540-545.
85. Mitchell ES, Farin FM, Stapleton PL, Tsai JM, Tao EY, Smith-Dijulio K, Woods NF. Association of estrogen-related polymorphisms with age at menarche, age at final menstrual period, and stages of the menopausal transition. Menopause 2008;15:105-111.
86. Morris DH, Jones ME, Schoemaker MJ, Ashworth A, Swerdlow AJ. Familial concordance for age at menarche: analyses from the Breakthrough Generations Study. Paediatr Perinat Epidemiol 2011;25:306-311.
87. Mouillet JF, Sonnenberg-Hirche C, Yan X, Sadovsky Y. p300 regulates the synergy of steroidogenic factor-1 and early growth response-1 in activating luteinizing hormone-beta subunit gene. J Biol Chem 2004;279:7832-7839.
88. Murabito JM, Yang Q, Fox C, Wilson PW, Cupples LA. Heritability of age at natural menopause in the Framingham Heart Study. Obstet Gynecol Surv 2005; 60:656-657.
89. Najafi-Shoushtari SH, Kristo F, Li Y, Shioda T, Cohen DE, Gerszten RE, Naar AM. MicroRNA-33 and the SREBP host genes cooperate to control cholesterol homeostasis. Science 2010;328:1566-1569.
90. Nakada M, Yamada A, Takino T, Miyamori H, Takahashi T, Yamashita J, Sato H. Suppression of membrane-type 1 matrix metalloproteinase (MMP)-mediated MMP-2 activation and tumor invasion by testican 3 and its splicing variant gene product, N-Tes. Cancer Res 2001;61:8896-8902.
91. Nelis M, Esko T, Magi R, Zimprich F, Zimprich A, Toncheva D, Karachanak S, Piskackova T, Balascak I, Peltonen L et al. Genetic structure of Europeans: a view from the North-East. PLoS One 2009;4:e5472.
92. Ong KK, Elks CE, Li S, Zhao JH, Luan J, Andersen LB, Bingham SA, Brage S, Smith GD, Ekelund U et al. Genetic variation in LIN28B is associated with the timing of puberty. Nat Genet 2009;41:729-733.
93. Onland-Moret NC, Peeters PH, van Gils CH, Clavel-Chapelon F, Key T, Tjonneland A, Trichopoulou A, Kaaks R, Manjer J, Panico S et al. Age at menarche in relation to adult height: the EPIC study. Am J Epidemiol 2005; 162:623-632.
94. Pan R, Liu YZ, Deng HW, Dvornyk V. Association analyses suggest the effects of RANK and RANKL on age at menarche in Chinese women. Climacteric, 2011 Oct 24. [Epub ahead of print].
95. Pan F, Xiao P, Guo Y, Liu YJ, Deng HY, Recker RR, Deng HW. Chromosomal regions 22q13 and 3p25 may harbor quantitative trait loci influencing both age at menarche and bone mineral density. Hum Genet 2008;123:419-427.
96. Pascual J, Garcia-Moro CE, Hernandez M. Biological and behavioral determinants of fertility in Tierra del Fuego. Am J Phys Anthropol 2005;127:105-113.
97. Peccei JS. Genetic correlation between the ages of menarche and menopause. Hum Nat 2000;11:43-63.
98. Peeters PH, Verbeek AL, Krol A, Matthyssen MM, de Waard F. Age at menarche and breast cancer risk in nulliparous women. Breast Cancer Res Treat 1995; 33:55-61.
99. Pei YF, Zhang L, Deng HW, Dvornyk V. CYP17 MspA1 polymorphism and age at menarche: a meta-analysis. Dis Markers 2008;25:87-95.
100. Perry JR, Stolk L, Franceschini N, Lunetta KL, Zhai G, McArdle PF, Smith AV, Aspelund T, Bandinelli S, Boerwinkle E et al. Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. Nat Genet 2009;41:648-650.
101. Petridou E, Syrigou E, Toupadaki N, Zavitsanos X, Willett W, Trichopoulos D. Determinants of age at menarche as early life predictors of breast cancer risk. Int J Cancer 1996;68:193-198.
102. Remsberg KE, Demerath EW, Schubert CM, Chumlea WC, Sun SS, Siervogel RM. Early menarche and the development of cardiovascular disease risk factors in adolescent girls: the Fels Longitudinal Study. J Clin Endocrinol Metab 2005; 90:2718-2724.
103. Riestra P, Garcia-Anguita A, Torres-Cantero A, Bayonas MJ, de Oya M, Garces C. Association of the Q223R polymorphism with age at menarche in the leptin receptor gene in humans. Biol Reprod 2011;84:752-755.
104. Risch NJ, Merikangas K. The future of genetic studies of complex human diseases. Science 1996;273:1516-1517.
105. Rothenbuhler A, Fradin D, Heath S, Lefevre H, Bouvattier C, Lathrop M, Bougneres P. Weight-adjusted genome scan analysis for mapping quantitative trait loci for menarchal age. J Clin Endocrinol Metab 2006;91:3534-3537.
106. Rothenbuhler A, Lotton C, Fradin D. Three common variants of LEP, NPY1R and GPR54 show no association with age at menarche. Horm Res 2009;71:331-335.
107. Schatzkin A, Palmer JR, Rosenberg L, Helmrich SP, Miller DR, Kaufman DW, Lesko SM, Shapiro S. Risk factors for breast cancer in black women. J Natl Cancer Inst 1987;78:213-217.
108. Silva IV, Rezende LC, Lanes SP, Souza LS, Madeira KP, Cerri MF, Paes MF, Daltoe RD, Chambo-Filho A, Guimaraes MC et al. Evaluation of PvuII and XbaI polymorphisms in the estrogen receptor a gene (ESR1) in relation to menstrual cycle timing and reproductive parameters in post-menopausal women. Maturitas, 2010;67:363-367.
109. Sizonenko PC. Physiology of puberty. J Endocrinol Invest 1989;12:59-63.
110. Snieder H, MacGregor AJ, Spector TD. Genes control the cessation of a woman's reproductive life: a twin study of hysterectomy and age at menopause. J Clin Endocrinol Metab 1998;83:1875-1880.
111. So T, Lee SW, Croft M. Tumor necrosis factor/tumor necrosis factor receptor family members that positively regulate immunity. Int J Hematol 2006;83:1-11.
112. Stavrou I, Zois C, Ioannidis JP, Tsatsoulis A. Association of polymorphisms of the oestrogen receptor a gene with the age of menarche. Hum Reprod 2002; 17:1101-1105.
113. Stavrou I, Zois C, Chatzikyriakidou A, Georgiou I, Tsatsoulis A. Combined estrogen receptor a and estrogen receptor b genotypes influence the age of menarche. Hum Reprod 2006;21:554-557.
114. Sulem P, Gudbjartsson DF, Rafnar T, Holm H, Olafsdottir EJ, Olafsdottir GH, Jonsson T, Alexandersen P, Feenstra B, Boyd HA et al. Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche. Nat Genet 2009;41:734-738.
115. Suzuki T, Hayashi S, Miki Y, Nakamura Y, Moriya T, Sugawara A, Ishida T, Ohuchi N, Sasano H. Peroxisome proliferator-activated receptor g in human breast carcinoma: a modulator of estrogenic actions. Endocr Relat Cancer 2006; 13:233-250.
116. Taylor KC, Small CM, Epstein MP, Sherman SL, Tang W, Wilson MM, Bouzyk M, Marcus M. Associations of progesterone receptor polymorphisms with age at menarche and menstrual cycle length. Horm Res Paediatr 2010;74:421-427.
117. Theill LE, Boyle WJ, Penninger JM. RANK-L and RANK: T cells, bone loss, and mammalian evolution. Annu Rev Immunol 2002;20:795-823.
118. van Noord PA, Dubas JS, Dorland M, Boersma H, Velde ER. Age at natural menopause in a population-based screening cohort: the role of menarche, fecundity, and lifestyle factors. Fertil Steril 1997;68:95-102.
119. Viswanathan SR, Powers JT, EinhornW, Hoshida Y, Ng TL, Toffanin S, O'Sullivan M, Lu J, Phillips LA, Lockhart VL et al. Lin28 promotes transformation and is associated with advanced human malignancies. Nat Genet 2009;41: 843-848.
120. Voorhuis M, Onland-Moret NC, van der Schouw YT, Fauser BC, Broekmans FJ. Human studies on genetics of the age at natural menopause: a systematic review. Hum Reprod Update 2010;16:364-377.
121. Wang W, Zhao LJ, Liu YZ, Recker RR, Deng HW. Genetic and environmental correlations between obesity phenotypes and age at menarche. Int J Obes 2006;30:1595-1600.
122. Whelan EA, Sandler DP, McConnaughey DR, Weinberg CR. Menstrual and reproductive characteristics and age at natural menopause. Am J Epidemiol 1990;131:625-632.
123. Widen E, Ripatti S, Cousminer DL, Surakka I, Lappalainen T, Jarvelin MR, Eriksson JG, Raitakari O, Salomaa V, Sovio U et al. Distinct variants at LIN28B influence growth in height from birth to adulthood. Am J Hum Genet 2010; 86:773-782.
124. Xita N, Chatzikyriakidou A, Stavrou I, Zois C, Georgiou I, Tsatsoulis A. The (TTTA)n polymorphism of aromatase (CYP19) gene is associated with age at menarche. Hum Reprod 2010;25:3129-3133.
125. Xita N, Tsatsoulis A, Stavrou I, Georgiou I. Association of SHBG gene polymorphism with menarche. Mol Hum Reprod, 2005;11:459-462.
126. Yanagawa R, Furukawa Y, Tsunoda T, Kitahara O, Kameyama M, Murata K, Ishikawa O, Nakamura Y. Genome-wide screening of genes showing altered expression in liver metastases of human colorectal cancers by cDNA microarray. Neoplasia 2001;3:395-401.
127. Yang F, Xiong DH, Guo Y, Shen H, Xiao P, Zhang F, Jiang H, Recker RR, Deng HW. The chemokine (C-C-motif) receptor 3 (CCR3) gene is linked and associated with age at menarche in Caucasian females. Hum Genet 2007;121:35-42.
128. Yazawa M, Ferrante C, Feng J, Mio K, Ogura T, Zhang M, Lin PH, Pan Z, Komazaki S, Kato K et al. TRIC channels are essential for Ca2+ handling in intracellular stores. Nature 2007;448:78-82.
129. Ye Z, Parry JM. The CYP17 MspA1 polymorphism and breast cancer risk: a meta-analysis. Mutagenesis 2002;17:119-126.
130. Zhang J, Lathbury LJ, Salamonsen LA. Expression of the chemokine eotaxin and its receptor, CCR3, in human endometrium. Biol Reprod 2000;62:404-411.
131. Zhang L, Pei YF, Li J, Papasian CJ, Deng HW. Efficient utilization of rare variants for detection of disease-related genomic regions. PLoS One 2010;5:e14288.
132. Zhao J, Xiong DH, Guo Y, Yang TL, Recker RR, Deng HW. Polymorphism in the insulin-like growth factor 1 gene is associated with age at menarche in Caucasian females. Hum Reprod, 2007;22:1789-1794.