CYP1A1 and CYP1B1 Polymorphisms and Their Association with Estradiol and Estrogen Metabolites in Women Who Are Premenopausal and Perimenopausal

Sowers, Mary Fran; Wilson, Angela; Kardia, Sharon R.; Chu, Jian; McConnell, Daniel S.

doi:10.1016/j.amjmed.2006.07.006

Cited by 47 publications

(36 citation statements)

References 15 publications

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“…It is similar in size to the CYP1A1 gene (8,546 base pairs in length and encoding a 543-amino acid protein). Currently, approximately 42 common CYP1B1 allele variants have been reported [11]. The substrates of CYP1B1 enzymatic activity are also the inducers of gene transcription, consistent with CYP1A1 activity [12].…”

Section: Introductionmentioning

confidence: 85%

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CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women

Cheng

Luo

et al. 2008

J Assist Reprod Genet

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Purpose The aim of the study was to evaluate the association of CYP1A1 and CYP1B1 polymorphisms with uterine leiomyoma in Chinese women. Methods We investigated 100 women with clinically diagnosed uterine leiomyoma and 110 healthy normal subjects from Chinese women. The genetic distribution of two CYP1A1 polymorphisms at MspI, Ile462Val and four CYP1B1 polymorphisms at Arg48Gly, Ala119Ser, Leu432Val, Asp449Asp were analyzed by polymerase chain reactionrestriction fragment length polymorphism and DNA sequencing method. Results All the SNPs showed polymorphisms in Chinese women. The genotype A/G and the allele G on Ile462Val was significantly different between uterine leiomyoma patients and controls (P<0.05). Conclusion These results suggest that the genotype of CYP1A1 Ile462Val was associated with the increased risk of uterine leiomyomas in Chinese women.

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Section: Introductionmentioning

confidence: 85%

“…The CYP1A1 gene, located on chromosome 15q22-q24, is 5,987 base pairs long and encodes a 512-amino acid protein. To date, 19 common polymorphisms of this gene have been identified [11]. Polyaromatic hydrocarbons and other chemicals serve as inducers as well as substrate in the regulation of gene expression [12].…”

Section: Introductionmentioning

confidence: 99%

CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women

Cheng

Luo

et al. 2008

J Assist Reprod Genet

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“…Recent studies show that some SNPs are related to the development of UL [18,19]. The most well-studied SNP locus on CYP1A1 is rs1048943, which involves a G→A transversion, leading to the substitution of 462Ile with Val [20]. This transversion is reported to increase the risk of UL development in a Chinese population [21].…”

Section: Discussionmentioning

confidence: 99%

A Multicenter Case-Control Study on Screening of Single Nucleotide Polymorphisms in Estrogen-Metabolizing Enzymes and Susceptibility to Uterine Leiomyoma in Han Chinese

Shen¹,

Ren²,

Xu³

et al. 2014

Gynecol Obstet Invest

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Uterine leiomyoma (UL) is an estrogen-responsive benign tumor in the female reproductive system and the main risk of hysterectomy for women. However, gene polymorphism of estrogen-metabolizing enzymes may lead to the different susceptibility to UL. We detected 10 single mucleotide polymorphisms in three key estrogen metabolite enzymes (COMT, CYP1A1, CYP1B1) in a Chinese Han population consisting of 800 patients and 800 healthy women from five different medical centers. The genetic polymorphism of rs3087869 (IVS1+2329C>T) (OR 3.200, 95% CI 1.614-6.345) and rs4680 (Val158Met) (OR 5.675, 95% CI 2.696-11.942) loci on COMT, rs1048943 (Ile462Val) (OR 4.629, 95% CI 2.216-9.672) and rs4646422 (Gly45Asp) (OR 3.240, 95% CI 1.624-6.461) loci on CYP1A1 and rs1065827 (Ala119Ser) (OR 5.635, 95% CI 2.990-10.619) locus on CYP1B1 were the risk factors to UL development and rs1056836 (Leu432Val) (OR 0.188, 95% CI 0.061-0.575) locus on CYB1B1 may be the protective factor to UL. The results provide a theoretical basis for genetic screening and early intervention to UL-susceptible populations.

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“…Genotype -phenotype studies have suggested that mutations causing premature truncation of the protein (frameshifts, deletions, insertions, and nonsense mutations) cause more severe disease with earlier onset than disease caused by missense mutations. The gene product, cytochrome P450 1B1, metabolizes complex molecules such as polycyclic aromatic hydrocarbons and 17b-estradiol (Tokizane et al 2005;Tsuchiya et al 2005;Sowers et al 2006). The role of the protein in congenital glaucoma is not clear; however, it has been hypothesized that cytochrome P450 1B1 activity is responsible for metabolism of compounds involved in ocular development (Choudhary et al 2008;Choudhary et al 2009).…”

Section: Congenital Glaucomamentioning

confidence: 99%

Common and Rare Genetic Risk Factors for Glaucoma

Wang

Wiggs

2014

Cold Spring Harbor Perspectives in Medicine

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CYP1A1 and CYP1B1 Polymorphisms and Their Association with Estradiol and Estrogen Metabolites in Women Who Are Premenopausal and Perimenopausal

Cited by 47 publications

References 15 publications

CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women

CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women

A Multicenter Case-Control Study on Screening of Single Nucleotide Polymorphisms in Estrogen-Metabolizing Enzymes and Susceptibility to Uterine Leiomyoma in Han Chinese

Common and Rare Genetic Risk Factors for Glaucoma

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