Variants in estrogen biosynthesis genes, sex steroid hormone levels, and endometrial cancer: A HuGE review Journal Article
| Authors: | Olson, S. H.; Bandera, E. V.; Orlow, I. |
| Article Title: | Variants in estrogen biosynthesis genes, sex steroid hormone levels, and endometrial cancer: A HuGE review |
| Abstract: | Variants in genes involved in estrogen biosynthesis are likely to be important in the etiology of endometrial cancer. This review summarizes data on variants in seven genes in the estrogen biosynthesis pathway and their relation to circulating levels of sex steroid hormones in women and to risk of endometrial cancer. Little or no association was found between genotypes of the cytochrome P-450 genes CYP11A1 (-528[TTTTA]n) or CYP17A1 (-34T/C) or the 17β-hydroxysteroid dehydrogenase 1 gene HSD17B1 (Ser312Gly) and levels of progesterone, androgens, or estrogens. The position -34T/C variant in CYP17A1 appears to be associated with reduced risk of endometrial cancer, with those homozygous for the variant allele having about half the risk of those homozygous for the wild type. Linked variants in CYP19A1 (intron 4 [TTTA]n, intron 4 [TCT] insertion/deletion, exon 10 C/T) are related to some hormone levels and, based on two studies, to risk of endometrial cancer. For other genes (HSD3B1, HSD3B2, HSD17B2), no information is available on these associations. Results indicate the need to study other variants and haplotypes in these genes, particularly CYP17A1 and CYP19A1, as well as variants in other genes involved in hormone biosynthesis and metabolism pathways. Larger studies or combined studies that allow for investigation of gene-gene and gene-environment interactions are warranted. Copyright © 2006 by the Johns Hopkins Bloomberg School of Public Health. All rights reserved. |
| Keywords: | unclassified drug; exon; gene deletion; polymorphism, single nucleotide; androgen; review; cancer risk; endometrial neoplasms; endometrium cancer; genetic analysis; polymerase chain reaction; metabolism; allele; gene; estrogen; estrogens; genetic variability; genotype; intron; genetic variation; risk factor; molecular interaction; genetic risk; epidemiology; gene insertion; risk reduction; sex hormone; androgens; gonadal steroid hormones; cytochrome p450; aromatase; etiology; cyp19a1; progesterone; variation (genetics); estrogen blood level; cyp11a1; cyp17a1; cholesterol side-chain cleavage enzyme; steroid 17-alpha-hydroxylase; cytochrome p-450 enzyme system; hsd17b; hsd3b; cytochrome p450 11a1; cytochrome p450 17a1; cytochrome p450 19a1; hydroxysteroid dehydrogenase; hydroxysteroid dehydrogenase 1; estrogenic compound; estrogen synthesis; sex hormone determination; steroid blood level; 17-hydroxysteroid dehydrogenases; 3-hydroxysteroid dehydrogenases; estradiol dehydrogenases |
| Journal Title: | American Journal of Epidemiology |
| Volume: | 165 |
| Issue: | 3 |
| ISSN: | 0002-9262 |
| Publisher: | Oxford University Press |
| Date Published: | 2007-02-01 |
| Start Page: | 235 |
| End Page: | 245 |
| Language: | English |
| DOI: | 10.1093/aje/kwk015 |
| PUBMED: | 17110639 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | --- - "Cited By (since 1996): 35" - "Export Date: 17 November 2011" - "CODEN: AJEPA" - "Source: Scopus" |
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