CYP1A1 and CYP1B1 polymorphisms and their association with estradiol and estrogen metabolites in women who are premenopausal and perimenopausal

CYP1A1 and CYP1B1 polymorphisms and their association with estradiol and estrogen metabolites in women who are premenopausal and perimenopausal
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DOI:
10.1016/j.amjmed.2006.07.006
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发表时间:
2006-09-01
影响因子:
5.9
通讯作者:
McConnell, Daniel S.
McConnell, Daniel S.
中科院分区:
医学2区
文献类型:
--
作者:
Sowers, MaryFran R.;Wilson, Angela L.;McConnell, Daniel S.

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本研究的目的是将雌二醇(E-2)和尿雌激素代谢产物2-羟基雌酮(2-OHE 1)和16 α-羟基雌酮(16 α-OHE 1)的测量浓度与CYP 1A 1和CYP 1B 1的单核苷酸多态性(SNP)相关,CYP 1A 1和CYP 1B 1是参与雌激素激动的主要基因。我们研究了4种CYP 1A 1 SNP(CYP 1A 1 rs 4646903、CYP 1A 1 rs 1531163、CYP 1A 1 rs 2606345和CYP 1A 1 rs 1048943)和2种CYP 1B 1 SNP(CYP 1B 1 rs 162555和CYP 1B 1 rs 1056836)与循环血清E-2浓度和尿雌激素代谢产物2-OHE 1和16 α-OHE 1的相关性。在来自全国妇女健康研究(SWAN)的4个种族/民族的1,340名绝经前和围绝经期的参与者中评估了这些协会。非裔美国人和高加索妇女的SNPs等位基因频率有很大的差异。然而,中国和日本妇女之间存在显著的可比性,其CYP 1A 1和CYP 1B 1等位基因频率仅相差
The purpose of this study was to relate measured concentrations of estradiol (E-2) and the urinary estrogen metabolites 2-hydroxyestrone (2-OHE1) and 16 alpha-hydroxyestrone (16 alpha-OHE1) to single nucleotide polymorphisms (SNPs) from CYP1A1 and CYP1B1, the primary genes involved in estrogen catabolism. We investigated the association of 4 CYP1A1 SNPs (CYP1A1 rs4646903, CYP1A1 rs1531163, CYP1A1 rs2606345, and CYP1A1 rs1048943) and 2 CYP1B1 SNPs (CYP1B1 rs162555 and CYP1B1 rs1056836) to circulating serum E-2 concentrations and the urinary estrogen metabolites 2-OHE1 and 16 alpha-OHE1. The associations were evaluated in 1,340 participants of 4 racial/ethnic groups from the Study of Women's Health Across the Nation (SWAN) who were premenopausal and perimenopausal. There was substantial variation in the allele frequencies of the SNPs for African American and Caucasian women. There was, however, remarkable comparability between Chinese and Japanese women; their CYP1A1 and CYP1B1 allele frequencies differed by only