Mutational analysis of inhibin alpha gene revealed three novel variations in Indian women with premature ovarian failure

Golla, Jaya Prakash; Kanth, Vishnubhotla Venkata Ravi; Shelling, Andrew N.; Rozati, Roya; Sujatha, M.

doi:10.1016/j.fertnstert.2009.02.014

Cited by 19 publications

(19 citation statements)

References 41 publications

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“…It has been reported that the A allele of the 769G/A polymorphism was more frequently observed in Indian women with POF than in normal control women younger than 40 years with a history of normal menstruation. 15,18 In contrast, the frequency of the A allele (4.1%) in normal control women (G40 y) was higher than in idiopathic women with POF (0%) among Argentine women, although the result did not reach statistical significance. Corre et al 14 reported that the frequency of the A allele was higher in normal postmenopausal women than in women with POF among central Italian women, but Marozzi et al 11 insisted that a higher prevalence of the A allele existed in women with familial POF than in normal physiologic postmenopausal women in the Milan and Vares areas.…”

Section: Discussionmentioning

confidence: 69%

“…With regard to the INH> 769G/A polymorphism, divergent relationships with POF have been reported, depending on the ethnicities of the study population, 11,14,16,18 ever since Shelling et al 19 reported an association with POF. It has been reported that the A allele of the 769G/A polymorphism was more frequently observed in Indian women with POF than in normal control women younger than 40 years with a history of normal menstruation.…”

Section: Discussionmentioning

confidence: 97%

“…Although several studies have used for control women after physiologic menopause, 11,14 healthy volunteers from the general population, 13 normal fertile women, 17 or women with regular menstruation after the age of 40 years, 14 we included women with regular menstruation (younger than 40 y) as normal control women, as has been done in other studies. 16,18,20 The lack of an association among these polymorphisms with POF in a recently performed meta-analysis 21 might reflect the results because of a mixture of various ethnic populations.…”

Section: Discussionmentioning

confidence: 99%

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Relationship between inhibin-α gene polymorphisms and premature ovarian failure in Korean women

Kim

Chun

et al. 2011

Menopause

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Section: Discussionmentioning

confidence: 69%

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

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Relationship between inhibin-α gene polymorphisms and premature ovarian failure in Korean women

Kim

Chun

et al. 2011

Menopause

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“…One missense variation of INHA gene (p.A257T) has been associated with POI in several populations , Marozzi et al 2002, Dixit et al 2004, with a prevalence of 0-11% depending on the ethnicity of the population studied. In fact, the highest frequency of INHA variant was found in the Indian population (Dixit et al 2004, 2006a, Prakash et al 2010 and in the New Zealand study, including Slovenian patients ). An Italian study reported a significant association between the INHA p.A257T variant and sporadic (4 .…”

Section: Inhibin Amentioning

confidence: 83%

Genes involved in human premature ovarian failure

Persani

Rossetti

Cacciatore

2010

Journal of Molecular Endocrinology

207

108

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Premature ovarian failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles before the age of 40 years, representing one major cause of female infertility. POF relevance is continuously growing because women tend to conceive ever more frequently in their thirties and forties. POF can present very early with a pubertal defect. More frequently, it is the end stage of an occult process (primary ovarian insufficiency, POI) affecting w1-2% of under-40 women. POI is a heterogeneous disease caused by a variety of mechanisms. Though the underlying cause remains unexplained in the majority of cases, various data indicate that POI has a strong genetic component. These data include the existence of several causal genetic defects in humans, experimental and natural models, as well as the frequent familiarity. The variable expressivity of POI defect in women of the same family may indicate that, in addition to some monogenic forms, POI may frequently be considered as a multifactorial defect resulting from the contribution of several predisposing alleles. The X chromosome-linked defects play a major role among the presently known causal defects. Here, we review the principal X-linked and autosomal genes involved in syndromic and nonsyndromic forms of POI with the wish that this list will soon become upgraded because of the discovery of novel contributing mechanisms. A better understanding of POI pathogenesis will indeed allow the construction of tests able to predict the age of menopause in women at higher risk of POI.

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“…There is a strong association between POI and variants in the inhibin-α subunit gene (IHNA) (e.g., G769A missense mutation) in female population in India and New Zealand [66,67]. The INHA G769A mutation, with prevalence from 011% in different population [15], results in normal production of dimeric inhibin A and B, but impaired bioactivity of inhibin B, which may be related to POI development [66].…”

Section: Autosomal Poi Genesmentioning

confidence: 99%

An update on primary ovarian insufficiency

Jin

Huang

2012

Sci. China Life Sci.

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Primary ovarian insufficiency (POI) occurs in about 1% of female population under the age of 40, leading to reproductive problems, an earlier encounter with menopausal symptoms, and complicated diseases. There are three presumable mechanisms involved in the development of POI, namely apoptosis acceleration, follicular maturation blocking and premature follicle activation, through the following studied causes: (i) chromosomal abnormalities or gene mutations: mostly involve X chromosome, such as FMR1 premutation; more and more potentially causal genes have been screened recently; (ii) metabolic disorders such as classic galactosaemia and 17-OH deficiency; (iii) autoimmune mediated ovarian damage: observed alone or with some certain autoimmune disorders and syndromes; but the specificity and sensitivity of antibodies towards ovary are still questionable; (iv) iatrogenic: radiotherapy or chemotherapy used in cancer treatment, as well as pelvic surgery with potential threat to ovaries' blood supply can directly damage ovarian function; (v) virus infection such as HIV and mumps; (vi) toxins and other environmental/lifestyle factors: cigarette smoking, toxins (e.g., 4-vinylcyclohexene diepoxide), and other environmental factors are associated with the development of POI. The etiology of a majority of POI cases is not identified, and is believed to be multifactorial. Strategies to POI include hormone replacement and infertility treatment. Assisted conception with donated oocytes has been proven to achieve pregnancy in POI women. Embryo cryopreservation, ovarian tissue cryopreservation and oocyte cryopreservation have been used to preserve ovarian reserve in women undergoing cancer treatments. Primary ovarian insufficiency (POI), commonly referred to as premature ovarian failure (POF), is defined as the occurrence of amenorrhea (for 4 months or more) before the age of 40 in women, accompanied with an increase of serum FSH to menopausal level (usually over 40 IU L 1 , obtained at least 1 month apart), and estradiol levels less than 50 pg mL 1 (which indicate hypoestrogenism) [1]. Primary ovarian insufficiency is first brought to light by Fuller Albright in 1942, who emphasized that the end stage of ovarian function is the primary defect rather than abnormality in gonadotropin secretion [2], and avoided the discomforting and inaccurate stressing on "failure", like death-sentence for ovarian function and conception.Menopause is a destined phase of women, which is expected to occur at around the age of (50±4) years in US women [3]. The age of 40 is two standard deviations below this average [4]. With an incidence of 1% in women under the age of 40, and 0.1% in women under the age of 30 [5], POI renders patients estrogen deficiency and anovulation, resulting in vasomotor symptoms (hot flashes and night sweats), atrophic vaginitis, dyspareunia, primary or secondary amenorrhea, and infertility. 76% of POI cases developed after normal puberty and establishment of regular menses [6]. Some of such conditions occur after stopping...

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Mutational analysis of inhibin alpha gene revealed three novel variations in Indian women with premature ovarian failure

Cited by 19 publications

References 41 publications

Relationship between inhibin-α gene polymorphisms and premature ovarian failure in Korean women

Relationship between inhibin-α gene polymorphisms and premature ovarian failure in Korean women

Genes involved in human premature ovarian failure

An update on primary ovarian insufficiency

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