Variable Phenotypes Associated with Aromatase (<i>CYP19</i>) Insufficiency in Humans

Lin, Lin; Ercan, Oya; Raza, Jamal; Burren, Christine P; Creighton, Sarah M.; Auchus, Richard J.; Dattani, Mehul; Achermann, John C.

doi:10.1210/jc.2006-1181

Cited by 109 publications

(117 citation statements)

References 43 publications

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“…However, no significant association was found between CYP19(TTTA) 7 allele presence and pregnancy rates.…”

Section: Data Shown As Number (N) and Percentage (%)mentioning

confidence: 82%

“…Specifically, women with a CYP19(TTTA) 7 allele in their genotype presented significantly higher serum FSH levels at the third day of the menstrual cycle compared to women without any CYP19 (TTTA) 7 allele in their genotype (7.5±1.6 vs. 6.5±2.1 mIU/ml, p<0.003) (Fig. 2).…”

Section: Genotype Analysismentioning

confidence: 95%

“…When we analyzed the controlled ovarian stimulation (COS) outcome in combination with each CYP19(TTTA) n allele, only the CYP19(TTTA) 7 allele was significantly associated with serum FSH levels, follicle and large follicle numbers as well as with follicle size. Specifically, women with a CYP19(TTTA) 7 allele in their genotype presented significantly higher serum FSH levels at the third day of the menstrual cycle compared to women without any CYP19 (TTTA) 7 allele in their genotype (7.5±1.6 vs. 6.5±2.1 mIU/ml, p<0.003) (Fig.…”

Section: Genotype Analysismentioning

confidence: 99%

“…Chi-square test analysis was used Short CYP19(TTTA)n alleles: CYP19(TTTA) 7 , CYP19(TTTA) 8 , CYP19(TTTA) 9 Long CYP19(TTTA)n alleles: CYP19(TTTA) 10 , CYP19(TTTA) 11 predominantly small follicles than CYP19(TTTA) 7 allele-non carriers (35.5% vs. 19%, p<0.01). However, no significant association was found between CYP19(TTTA) 7 allele presence and pregnancy rates.…”

Section: Data Shown As Number (N) and Percentage (%)mentioning

confidence: 99%

“…At birth, these females are characterized by hyperandrogenism and genital ambiguity, ranging from clitoral enlargement to complete labioscrotal fusion [5][6][7].…”

Section: Introductionmentioning

confidence: 99%

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Aromatase (CYP19) gene variants influence ovarian response to standard gonadotrophin stimulation

Lazaros

Hatzi

Xita

et al. 2011

J Assist Reprod Genet

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Purpose The association of cytochrome P450 aromatase gene CYP19(TTTA) n polymorphism with ovarian response to FSH stimulation was explored. Methods Three hundred women undergoing medically assisted reproduction and 300 women with at least one spontaneous pregnancy participated in the study. CYP19(TTTA) n polymorphism was genotyped, while serum hormones were determined. During oocyte retrieval, the follicular size, the follicle and oocyte numbers were recorded. Results Six CYP19(TTTA) n alleles with 7 to 12 repeats were revealed. Women homozygous for long CYP19(TTTA) n alleles presented with lower serum FSH levels at the third day of the menstrual cycle (p<0.001) and higher large follicle numbers (p<0.01), compared to women homozygous for short CYP19(TTTA) n alleles. The CYP19(TTTA) 7 allele was associated with higher serum FSH levels (p< 0.003), with lower total follicle (p<0.02) and large follicle numbers (p<0.03), while CYP19(TTTA) 7 allele-carriers presented more frequently with small follicles than CYP19 (TTTA) 7 allele-non carriers (p<0.01). Conclusions CYP19 genetic variants were associated with ovarian reserve and response to standard gonadotrophin stimulation of women undergoing in vitro fertilization.

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“…However, no significant association was found between CYP19(TTTA) 7 allele presence and pregnancy rates.…”

Section: Data Shown As Number (N) and Percentage (%)mentioning

confidence: 82%

Section: Genotype Analysismentioning

confidence: 95%

Section: Genotype Analysismentioning

confidence: 99%

Section: Data Shown As Number (N) and Percentage (%)mentioning

confidence: 99%

“…At birth, these females are characterized by hyperandrogenism and genital ambiguity, ranging from clitoral enlargement to complete labioscrotal fusion [5][6][7].…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Aromatase (CYP19) gene variants influence ovarian response to standard gonadotrophin stimulation

Lazaros

Hatzi

Xita

et al. 2011

J Assist Reprod Genet

View full text Add to dashboard Cite

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Congenital Disorders of the Hypothalamo‐Pituitary‐Somatotrope Axis

Mehta¹,

Gevers

Dattani

2009

Brook's Clinical Pediatric Endocrinology

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Genetic polymorphisms associated with polycystic ovary syndrome among Iranian women

Jamshidi

Pour

Bahadoram

et al. 2020

Intl J Gynecology & Obste

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Polycystic ovary syndrome (PCOS) involves abnormalities in ovarian, reproductive, and metabolic systems. Genetic polymorphisms associated with individual differences and variations might be related to complex disorders with unknown causes, including PCOS. Several leading genetic markers with known cellular functions have been identified among Iranian women presenting with PCOS. In particular, the existing evidence shows a significant relationship between PCOS and the following genetic polymorphisms: rs2275913 (interleukin‐17A), rs9927163 (interleukin‐32), Pro12Ala (peroxisome proliferator‐activated receptor‐γ), rs17173608 (chemerin), rs2236242 (vaspin), ApaI (vitamin D receptor), and rs7895833 (sirtuin 1). In addition, a higher risk of PCOS is associated with the rs2910164 (microRNA 146a), rs2241766 (adiponectin), –34 T/C (cytochrome 17), and rs1800682 (Fas) polymorphisms. Furthermore, protective effects against PCOS have been reported for the A4223C polymorphism of adenosine deaminase 1. Overall, the available data indicate that Iranian women with PCOS have a higher prevalence of polymorphisms in inflammation‐ and metabolism‐related genes, but not in insulin‐related genes. More extensive studies are needed to identify the ethnicity‐related genetic associations in PCOS.

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Variable Phenotypes Associated with Aromatase (CYP19) Insufficiency in Humans

Cited by 109 publications

References 43 publications

Aromatase (CYP19) gene variants influence ovarian response to standard gonadotrophin stimulation

Aromatase (CYP19) gene variants influence ovarian response to standard gonadotrophin stimulation

Congenital Disorders of the Hypothalamo‐Pituitary‐Somatotrope Axis

Genetic polymorphisms associated with polycystic ovary syndrome among Iranian women

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