COMT polymorphism influences decrease of ovarian follicles and emerges as a predictive factor for premature ovarian insufficiency

نویسندگان

  • Emerson Barchi Cordts
  • Monise Castro Santos
  • Carla Peluso
  • Erika Azuma Kayaki
  • Bianca Bianco
  • Caio Parente Barbosa
  • Denise Maria Christofolini
چکیده

BACKGROUND Estrogens are important factors in the female reproductive functions and are processed by a number of enzymes along their metabolic pathway. The COMT gene constitutes a crucial element in estrogen metabolism and is assumed to be involved in the development of Premature Ovarian Insufficiency (POI). This study aimed to determine whether the presence of the COMT Val/Met polymorphism (rs4680) is associated to the risk of developing POI. FINDINGS In this case-control study, we evaluated 96 infertile women with POI and 120 fertile women as controls, after obtaining a detailed history of the disease and follicle-stimulating hormone measurements, besides karyotype determination and fragile-X premutation syndrome investigation. COMT (Val/Met) genotypes were identified by real time PCR (genotyping TaqMan assay), and the results were statistically analyzed. A statistically significant difference was found in the distribution of COMT genotypes (p = 0.003) and alleles (p = 0.015) between the POI patients and the control group. CONCLUSION We were able to demonstrate a strong association between the COMT Val/Met polymorphism and the risk of premature ovarian insufficiency in the Brazilian women evaluated. However, further studies in larger populations are necessary to confirm these findings.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

P-206: Genetic Variations of FSH Receptor Gene in Patients with Premature Ovarian Failure and Diminished Ovarian Reserve Referred to Royan Institute

Background: Immaturity of the ovarian follicles results in an infertility citation called Premature Ovarian Failure (POF), affecting approximately 1% of women under the age of 40. Women with this disorder go through early menopause and have high levels of gonadotropin hormones (FSH & LH). Diminished Ovarian Reserve (DOR) is another infertility disorder in which women’s ovaries have the ability ...

متن کامل

Pnm-5: Anti-Mullerian Hormone in The Assessment and follow up of Cancer in Young Females

Background The impact of cancer therapy on the reproductive potential of patients is increasingly recognized because survival rates of patients have clearly improved in recent years. The study stressed the use of AMH may allow better prediction of chemotherapy-related risk to further fertility. MaterialsAndMethods A narrative review was performed within articles published at PubMed, Elsevier, S...

متن کامل

نارسایی تخمدان به‌دنبال درمان سرطان و روش‌های حفظ باروری

Primary ovarian insufficiency (POI), commonly referred to premature ovarian failure, is defined as ovarian failure before the age of 40 years. It is the loss of ovarian function caused by a process directly affecting ovaries. Cancer therapy which includes surgery, radiotherapy, and chemotherapy influence ovarian function, leading to premature menopause and loss of fertility. POI is idiopathic i...

متن کامل

O-43: Mutations in NR5A1 Associated withOvarian Insufficiency

Background: The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic–pituitary–steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 7  شماره 

صفحات  -

تاریخ انتشار 2014