The American Journal of Medicine
Volume 119, Issue 9, Supplement 1 , Pages S3-S15 , September 2006

Characterizing Variation in Sex Steroid Hormone Pathway Genes in Women of 4 Races/Ethnicities: The Study of Women’s Health Across the Nation (SWAN)

  • Sharon R. Kardia, PhD
    • ,
  • Jian Chu, MS
    • ,
  • MaryFran R. Sowers, PhD

      Affiliations

    • Corresponding Author InformationRequests for reprints should be addressed to MaryFran R. Sowers, PhD, 339 East Liberty, Suite 310, School of Public Health, University of Michigan, Ann Arbor, Michigan 48104.

References 

  1. Kobayashi S , Inoue S , Hosoi T , Ouchi Y , Shiraki M , Orimo H . Association of bone mineral density with polymorphisms of the estrogen receptor gene . J Bone Miner Res . 1996;11:306–311
  2. Willing M , Sowers M , Aron D , et al.   Bone mineral density and its change in white women: estrogen and vitamin D receptor genotypes and their interaction . J Bone Miner Res . 1998;13:695–705
  3. Aktas D , Guney I , Alikasifoglu M , Yuce K , Tuncbilek E , Ayhan A . CYP1A1 gene polymorphisms and risk of epithelial ovarian neoplasm . Gynecol Oncol . 2002;86:124–128
  4. Bailey LR , Roodi N , Dupont WD , Parl FF . Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer . [published correction appears in Cancer Res. 1999;59:1388] Cancer Res . 1998;58:5038–5041
  5. Simpson ER , Zhao Y , Agarwal VR , et al.   Aromatase expression in health and disease . Recent Prog Horm Res . 1997;52:185–213
  6. Hall JM , Lee MK , Newman B , et al.   Linkage of early-onset familial breast cancer to chromosome 17q21 . Science . 1990;250:1684–1689
  7. Almeida S , Franken N , Zandona MR , Osorio-Wender MC , Hutz MH . Estrogen receptor 2 and progesterone receptor gene polymorphisms and lipid levels in women with different hormonal status . Pharmacogenomics J . 2005;5:30–34
  8. Baghaei F , Rosmond R , Westberg L , et al.   The CYP19 gene and associations with androgens and abdominal obesity in premenopausal women . Obes Res . 2003;11:578–585
  9. Iivonen S , Corder E , Lehtovitra M , et al.   Polymorphisms in the CYP19 gene confer increased risk for Alzheimer disease . Neurology . 2004;62:1170–1176
  10. Dalla C , Antoniou K , Papadopoulou-Daifoti Z , Balthazart J , Bakker J . Oestrogen-deficient female aromatase knockout (ArKO) mice exhibit depressive-like symptomatology . Eur J Neurosci . 2004;20:217–228
  11. Tworoger SS , Chubak J , Aiello EJ , et al.   Association of CYP17, CYP19, CYP1B1, and COMT polymorphisms with serum and urinary sex hormone concentrations in postmenopausal women . Cancer Epidemiol Biomarkers Prev . 2004;13:94–101
  12. Mosselman S , Polman J , Dijkema R . ERβ: identification and characterization of a novel human estrogen receptor . FEBS Lett . 1996;392:49–53
  13. Kushner PJ , Agard D , Feng WJ , et al.   Oestrogen receptor function at classical and alternative response elements . Novartis Found Symp . 2000;230:20–26
  14. Hayes CL , Spink DC , Spink BC , Cao JQ , Walker NJ , Sutter TR . 17β-estradiol hydroxylation catalyzed by human cytochrome P450 1B1 . Proc Natl Acad Sci U S A . 1996;93:9776–9781
  15. Shimada T , Hayes CL , Yamazaki H , et al.   Activation of chemically diverse procarcinogens by human cytochrome P-450 1B1 . Cancer Res . 1996;56:2979–2984
  16. Swaneck GE , Fishman J . Covalent binding of the endogenous estrogen 16α-hydroxyestrone to estradiol receptor in human breast cancer cells: characterization and intranuclear localization . Proc Natl Acad Sci U S A . 1988;85:7831–7835
  17. Seeger H , Mueck AO , Lippert TH . Effect of estradiol metabolites on the susceptibility of low density lipoprotein to oxidation . Life Sci . 1997;61:865–868
  18. Sowers MF , Crawford S , Sternfeld B , et al.   Design, survey sampling and recruitment methods of SWAN: a multicenter, multiethnic, community-based cohort study of women and the menopausal transition . In:  Lobo RA ,  Kelsey J ,  Marcus R editor. Menopause: Biology and Pathobiology . San Diego, CA: Academic Press; 2000;p. 175–188
  19. Gold B , Kalush F , Bergeron J , et al.   Estrogen receptor genotypes and haplotypes associated with breast cancer risk . Cancer Res . 2004;64:8891–8900
  20. Haiman CA , Stram DO , Pike MC , et al.   A comprehensive haplotype analysis of CYP 19 and breast cancer risk: the Multiethnic Cohort . Hum Mol Genet . 2003;12:2679–2692
  21. Weir BS . Inferences about linkage disequilibrium . Biometrics . 1979;35:235–254
  22. Benjamini Y , Drai D , Elmer G , Kafkafi N , Golani I . Controlling the false discovery rate in behavior genetics research . Behav Brain Res . 2001;125:279–284
  23. Lewontin RC . The interaction of selection and linkage, I: general considerations; heterotic models . Genetics . 1964;49:49–67
  24. SNP Assistant™ User Manual. Available at: http://www.biodata.ee/SNPassistant.htm. Accessed October 5, 2005.
  25. Stephens M , Smith NJ , Donnelly P . A new statistical method for haplotype reconstruction from population data . Am J Hum Genet . 2001;68:978–989
  26. Pritchard JK , Rosenberg NA . Use of unlinked genetic markers to detect population stratification in association studies . Am J Hum Genet . 1999;65:220–228
  27. Randolph JF , Sowers MF , Gold EB , et al.   Reproductive hormones in the early menopausal transition: relationship to ethnicity, body size, and menopausal status . J Clin Endocrinol Metab . 2003;88:1516–1522
  28. Randolph JF , Sowers MF , Bondarenko IV , Harlow SD , Luborsky JL , Little RJ . Change in estradiol and follicle-stimulating hormone across the early menopausal transition: effects of ethnicity and age . J Clin Endocrinol Metab . 2004;89:1555–1561
  29. Zhang J , Rowe WL , Clark AG , Buetow KH . Genomewide distribution of high-frequency, completely mismatching SNP haplotype pairs observed to be common across human populations . Am J Hum Genet . 2003;73:1073–1081
  30. Chakravarti A , Buetow KH , Antonarakis SE , Waber PG , Boehm CD , Kazazian HH . Nonuniform recombination within the human beta-globin gene cluster . Am J Hum Genet . 1984;36:1239–1258
  31. Zhu X , McKenzie CA , Forrester T , et al.   Localization of small genomic region associated with elevated ACE . Am J Hum Genet . 2000;67:1144–1153
  32. Reich DE , Cargill M , Bolk S , et al.   Linkage disequilibrium in the human genome . Nature . 2001;411:199–204
  33. Cargill M , Altshuler D , Ireland J , et al.   Characterization of single-nucleotide polymorphisms in coding regions of human genes . [published correction appears in Nat Genet. 1999;23:373] Nat Genet . 1999;22:231–238
  34. Halushka MK , Fan JB , Bentley K , et al.   Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis . Nat Genet . 1999;22:239–247
  35. Rieder MJ , Taylor SL , Clark AG , Nickerson DA . Sequence variation in the human angiotensin converting enzyme . Nat Genet . 1999;22:59–62
  36. Goldstein DB , Weale ME . Population genomics: linkage disequilibrium holds the key . Curr Biol . 2001;11:R576–R579

 The Study of Women’s Health Across the Nation (SWAN) and the SWAN Repository were supported by grants from the National Institutes of Health (NIH), Department of Health and Human Services, through the National Institute on Aging, the National Institute of Nursing Research, and the NIH Office of Research on Women’s Health (Grant Nos. AG017719, NR004061, AG012505, AG012535, AG012531, AG012539, AG012546, AG012553, AG012554, and AG012495). The Sex Steroid Hormone Protocol was supported by the SWAN Repository.This report is based on samples from the SWAN DNA Repository. Scientists interested in developing studies based on this resource can find a description of the SWAN Core Repository and DNA Repository and information on obtaining access to the resources at www.swanrepository.org.

PII: S0002-9343(06)00823-0

doi: 10.1016/j.amjmed.2006.07.001

The American Journal of Medicine
Volume 119, Issue 9, Supplement 1 , Pages S3-S15 , September 2006

Article Tools

* Image Usage & Resolution