Association between gynecomastia and aromatase (CYP19) polymorphisms

European Journal of Endocrinology
Izabella Czajka-OraniecJerzy Ostrowski

Abstract

Aromatase cytochrome P45019 (CYP19) is a key enzyme in estrogen biosynthesis, and polymorphisms within its gene are associated with an increased risk of estrogen-dependent diseases. Enhanced estrogen stimulation of breast tissue in men may lead to gynecomastia. We assessed whether intron 4 (TTTA)n repeat and TCT deletion/insertion polymorphisms and an exon 10 (3'-UTR) C/T single nucleotide polymorphism of CYP19 are associated with gynecomastia. We performed a genetic association study of 100 patients referred to the endocrinological outpatient clinic with breast glandular tissue enlargement confirmed by clinical and ultrasound examinations and 99 healthy volunteers without gynecomastia. Microsatellite (TTTA)n and insertion/deletion polymorphisms were studied using capillary electrophoresis, and the C/T polymorphism in the 3'-UTR was analyzed using the TaqMan assay. Significantly increased risk of gynecomastia was found in subjects carrying a CYP19 exon 10 T allele that was previously related to the high aromatase activity. Frequency of the TT genotype was significantly higher in patients when compared with controls (40.6 vs 26.3%; TT versus CT and CC genotypes; P(c)<0.05). We found strong linkage disequilibrium between the alle...Continue Reading

Citations

Mar 16, 2012·Breast Cancer Research and Treatment·Roberta FerraldeschiMitch Dowsett
Jan 11, 2011·Asian Journal of Andrology·Leandros LazarosIoannis Georgiou
Aug 13, 2014·Nature Reviews. Endocrinology·Harmeet S Narula, Harold E Carlson
Apr 20, 2012·The Journal of Sexual Medicine·Ravi KackerAbraham Morgentaler
Dec 30, 2014·Early Human Development·Anna Kasielska-Trojan, Bogusław Antoszewski
Feb 9, 2019·The Breast Journal·Anna Kasielska-TrojanBogusław Antoszewski
May 18, 2018·Hormone Research in Pædiatrics·Anna Kasielska-TrojanBogusław Antoszewski
Dec 7, 2021·Human Reproduction Update·Chao YangZheng Li

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