Document Detail


Common genetic variation in CYP1B1 is associated with concentrations of T₄, FT₃ and FT₄ in the sera of polycystic ovary syndrome patients.
MedLine Citation:
PMID:  23283740     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CYP1B1 encodes an estrogen enzyme that oxidizes 17β-estradiol to 4-hydroxyestradiol. The evidence demonstrates there may be a relationship between CYP1B1 and thyroid function. To date, no study has evaluated if genetic polymorphisms that regulate concentrations of serum FT3 and FT4 contribute to Polycyctic Ovary Syndrome (PCOS). To identify polymorphisms in the CYP1B1 locus associated with PCOS, we genotyped three common polymorphisms across the CYP1B1 locus in 226 patients. A test for association of common variants with susceptibility to PCOS was conducted in a large cohort of 609 subjects. The functional polymorphism CYP1B1 L432V (rs1056836) is associated with serum T4 (P = 0.003), serum FT3 (P < 0.001) and serum FT4 concentrations (P < 0.001). Our study provides the first evidence that genetic variants in CYP1B1 can be associated with serum T4, FT4 and FT3 levels in PCOS. These findings imply novel pathophysiological links between the CYP1B1 locus and thyroid function in PCOS.
Authors:
Shien Zou; Qing Sang; Huan Wang; Ruizhi Feng; Qiaoli Li; Xinzhi Zhao; Qinghe Xing; Li Jin; Lin He; Lei Wang
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2013-01-03
Journal Detail:
Title:  Molecular biology reports     Volume:  40     ISSN:  1573-4978     ISO Abbreviation:  Mol. Biol. Rep.     Publication Date:  2013 Apr 
Date Detail:
Created Date:  2013-03-12     Completed Date:  2013-09-04     Revised Date:  2014-01-08    
Medline Journal Info:
Nlm Unique ID:  0403234     Medline TA:  Mol Biol Rep     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  3315-20     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Aryl Hydrocarbon Hydroxylases / genetics*
Estrogens, Catechol / genetics,  metabolism
Female
Genetic Association Studies*
Genetic Predisposition to Disease
Humans
Polycystic Ovary Syndrome / blood,  genetics*,  pathology
Polymorphism, Single Nucleotide
Thyroid Function Tests
Thyroxine / blood,  genetics*
Triiodothyronine / blood,  genetics*
Chemical
Reg. No./Substance:
0/Estrogens, Catechol; 06LU7C9H1V/Triiodothyronine; C3ZO03450E/4-hydroxyestradiol; EC 1.14.14.1/Aryl Hydrocarbon Hydroxylases; EC 1.14.14.1/cytochrome P-450 CYP1B1; Q51BO43MG4/Thyroxine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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