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

American Journal of Medicine

Volumn 119, Issue 9 SUPPL. 1, 2006, Pages

  Kardia, Sharon R ^a   Chu, Jian ^a   Sowers, MaryFran R ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Genetics; Haplotypes; Linkage disequilibrium; Repository; Single nucleotide polymorphisms

Indexed keywords

DNA; SEX HORMONE;

ADULT; AFRICAN AMERICAN; ARTICLE; ASIAN AMERICAN; BLOOD SAMPLING; CAUCASIAN; CELL IMMORTALIZATION; CELL LINE; CHEEK; CHINESE; CLIMACTERIUM; CONTROLLED STUDY; DATA BASE; DRUG USE; ESTROGEN METABOLISM; ETHNIC DIFFERENCE; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE NUMBER; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HEALTH STATUS; HISPANIC; HORMONAL THERAPY; HUMAN; HUMAN CELL; HYBRID; LONGITUDINAL STUDY; MEDICAL ASSESSMENT; MENSTRUATION; METABOLOMICS; MOUTHWASH; PARAMETER; PRIORITY JOURNAL; RACE DIFFERENCE; SAMPLE; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; CONTINENTAL POPULATION GROUPS; FEMALE; GENE FREQUENCY; GONADAL STEROID HORMONES; HAPLOTYPES; HEALTH SURVEYS; HUMANS; MENOPAUSE; MIDDLE AGED; UNITED STATES; VARIATION (GENETICS);

EID: 33747880051     PISSN: 00029343     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.amjmed.2006.07.001     Document Type: Article

References (36)

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