Estrogen receptor alpha polymorphisms and the risk of malignancies.

作者: Andrei Anghel , Diana Narita , Edward Seclaman , Emilian Popovici , Mariana Anghel

DOI: 10.1007/S12253-010-9263-9

关键词: LeukemiaMyeloid leukemiaOncologyBreast cancerAlleleEstrogen receptor alphaBiologyGenotypeLinkage disequilibriumSingle-nucleotide polymorphismInternal medicine

摘要: Estrogens represent risk factors for endocrine-related cancers and play also an important role in the development progression of other malignancies. In order to analyze associations between estrogen receptor gene alpha polymorphisms susceptibility, we genotyped six single nucleotide (SNPs) 163 Caucasian cancer patients—103 breast 60 malignancies (colorectal, bladder, hepatocellular carcinoma acute myeloid leukemia)—and 114 healthy controls using hybridization probes. We performed Armitage`s association trend-test evaluate risk. Linkage disequilibrium (LD) was assessed each pair markers. The genotypes CC CT rs3798577 were significantly associated with (p-trend breast = 4 × 10-5; p-trend cancers = 1 × 10-5); discrepancy where C-allele represented allele, carcinomas leukemia, T allele seems confer susceptibility. minor G rs1801132 protective our cases (p = 1 × 10-4); rs2228480, heterozygous frequency higher groups (p = 0.03); SNP pairs rs2228480r haplotypes T-A rs2234693r rs2234693 expressed breast, colon leukemia; rs2077647 (p = 0.008, C-risk allele) bladder (p = 0.01, T-risk cancers. concluded that ESR1 may have distinct impact carcinogenesis further genotyping will establish whether these findings remain significant larger cohorts.

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