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Oestrogen receptor ...
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Wedrén, SaraKarolinska Institutet
(author)
Oestrogen receptor alpha gene haplotype and postmenopausal breast cancer risk : a case control study
- Article/chapterEnglish2004
Publisher, publication year, extent ...
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2004-06-04
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Springer Science and Business Media LLC,2004
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-67228
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-67228URI
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https://doi.org/10.1186/bcr811DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:1952931URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:vet swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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INTRODUCTION: Oestrogen receptor alpha, which mediates the effect of oestrogen in target tissues, is genetically polymorphic. Because breast cancer development is dependent on oestrogenic influence, we have investigated whether polymorphisms in the oestrogen receptor alpha gene (ESR1) are associated with breast cancer risk. METHODS: We genotyped breast cancer cases and age-matched population controls for one microsatellite marker and four single-nucleotide polymorphisms (SNPs) in ESR1. The numbers of genotyped cases and controls for each marker were as follows: TAn, 1514 cases and 1514 controls; c.454-397C --> T, 1557 cases and 1512 controls; c.454-351A --> G, 1556 cases and 1512 controls; c.729C --> T, 1562 cases and 1513 controls; c.975C --> G, 1562 cases and 1513 controls. Using logistic regression models, we calculated odds ratios (ORs) and 95% confidence intervals (CIs). Haplotype effects were estimated in an exploratory analysis, using expectation-maximisation algorithms for case-control study data. RESULTS: There were no compelling associations between single polymorphic loci and breast cancer risk. In haplotype analyses, a common haplotype of the c.454-351A --> G or c.454-397C --> T and c.975C --> G SNPs appeared to be associated with an increased risk for ductal breast cancer: one copy of the c.454-351A --> G and c.975C --> G haplotype entailed an OR of 1.19 (95% CI 1.06-1.33) and two copies with an OR of 1.42 (95% CI 1.15-1.77), compared with no copies, under a model of multiplicative penetrance. The association with the c.454-397C --> T and c.975C --> G haplotypes was similar. Our data indicated that these haplotypes were more influential in women with a high body mass index. Adjustment for multiple comparisons rendered the associations statistically non-significant. CONCLUSION: We found suggestions of an association between common haplotypes in ESR1 and the risk for ductal breast cancer that is stronger in heavy women.
Subject headings and genre
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breast cancer
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oestrogen receptor α
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gene
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haplotype
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polymorphism
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MEDICINE
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MEDICIN
Added entries (persons, corporate bodies, meetings, titles ...)
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Lovmar, LovisaUppsala universitet,Institutionen för medicinska vetenskaper(Swepub:uu)lomal932
(author)
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Humphreys, KeithKarolinska Institutet
(author)
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Magnusson, CeciliaKarolinska Institutet
(author)
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Melhus, HåkanUppsala universitet,Institutionen för medicinska vetenskaper,Osteoporos(Swepub:uu)hakamelh
(author)
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Syvänen, Ann-Christine
(author)
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Kindmark, AndreasUppsala universitet,Institutionen för medicinska vetenskaper(Swepub:uu)andrkind
(author)
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Landegren, UlfUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)ulfland
(author)
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Fermer, Maria LagerströmUppsala universitet,Institutionen för genetik och patologi
(author)
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Stiger, FredrikUppsala universitet,Institutionen för medicinska vetenskaper,Osteoporos(Swepub:uu)fredstig
(author)
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Persson, Ingemar
(author)
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Baron, John
(author)
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Weiderpass, ElisabeteKarolinska Institutet
(author)
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Karolinska InstitutetInstitutionen för medicinska vetenskaper
(creator_code:org_t)
Related titles
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In:Breast Cancer Research: Springer Science and Business Media LLC6:4, s. R437-491465-54111465-542X
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Wedrén, Sara
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Lovmar, Lovisa
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Humphreys, Keith
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Magnusson, Cecil ...
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Melhus, Håkan
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Syvänen, Ann-Chr ...
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Kindmark, Andrea ...
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Landegren, Ulf
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Fermer, Maria La ...
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Stiger, Fredrik
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Persson, Ingemar
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Baron, John
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Weiderpass, Elis ...
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Breast Cancer Re ...
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Uppsala universitet
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Karolinska Institutet