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

Kim, Hoon; Chun, Sungwook; Gu, Bon Seon; Ku, Seung‐Yup; Kim, Seok Hyun; Kim, Jung Gu

doi:10.1097/gme.0b013e31821d6f7e

Cited by 9 publications

(3 citation statements)

References 22 publications

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“…97 However, this IGF1 variant was found to significantly contribute to age at onset of menopause in a population of 24,341 Caucasian women 96 (Table 2). Mutations in the promoter region of INHA have been evaluated in Korean, European, Slovenian, and New Zealand POI patients 103–106 ; however, only c. –16C > T in 4 of 138 affected Slovenian women was significantly associated with POI (p ¼ 0.029; Table 1). 107 …”

Section: Genes Involved In Primordial Follicle Activation and Follicumentioning

confidence: 99%

Genomic Markers of Ovarian Reserve

Wood¹,

Rajkovic

2013

Semin Reprod Med

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Ovarian reserve and its utilization, over a reproductive life span, are determined by genetic, epigenetic, and environmental factors. The establishment of the primordial follicle pool and the rate of primordial follicle activation have been under intense study to determine genetic factors that affect reproductive lifespan. Much has been learned from transgenic animal models about the developmental origins of the primordial follicle pool and mechanisms that lead to primordial follicle activation, folliculogenesis, and the maturation of a single oocyte with each menstrual cycle. Recent genome-wide association studies on the age of human menopause have identified approximately 20 loci, and shown the importance of factors involved in double-strand break repair and immunology. Studies to date from animal models and humans show that many genes determine ovarian aging, and that there is no single dominant allele yet responsible for depletion of the ovarian reserve. Personalized genomic approaches will need to take into account the high degree of genetic heterogeneity, family pedigree, and functional data of the genes critical at various stages of ovarian development to predict women's reproductive life span.

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Section: Genes Involved In Primordial Follicle Activation and Follicumentioning

confidence: 99%

Genomic Markers of Ovarian Reserve

Wood¹,

Rajkovic

2013

Semin Reprod Med

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“…37,38,40 All analyses were performed using PLINK (version 1.07; http://pngu.mgh.harvard.edu/~purcell/plink/) and Python (version 2.7.3; Python Software Foundation, Wolfeboro Falls, NH). First, SNPs showing P G 0.01 in the candidate genes were selected.…”

Section: Statisticsmentioning

confidence: 99%

Genome-wide association studies and epistasis analyses of candidate genes related to age at menarche and age at natural menopause in a Korean population

et al. 2014

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“…Different types of inhibin-alpha gene mutations are associated with the prevalence of primary ovarian insufficiency in Indian (Marozzi et al, 2002;Prakash et al, 2010) and Korean (Kim et al, 2011) women. One of the susceptibility factors is the reduction of inhibin B bioactivity by inhibin-alpha gene variants (Chand et al, 2007(Chand et al, , 2010.…”

Section: Molecular Reproduction and Developmentmentioning

confidence: 99%

FSH modulates the expression of inhibin‐alpha and the secretion of inhibins via orphan nuclear receptor NUR77 in ovarian granulosa cells

Ding

Sun

et al. 2013

Molecular Reproduction Devel

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It has been previously reported that follicle-stimulating hormone (FSH) regulates the expression of inhibin-alpha in human granulosa cells, but the precise molecular pathway remains unknown. In the present study, we investigated the role of the orphan nuclear receptor, NUR77, in both the transcriptional regulation of the inhibin α-subunit gene and the secretion of inhibins. Our results showed that in a human granulosa cell tumor-derived cell line (KGN) and in human granulosa-lutein cells (hGL), FSH induced the expression of NUR77 and inhibin-alpha, although inhibin-alpha expression did not increased following FSH treatment if NUR77 was knocked down. Furthermore, simply overexpressing or reducing NUR77 levels affected inhibin-alpha expression, while NUR77 overexpression improved the secretion of inhibin A and B from human granulosa cells. In addition, chromatin immunoprecipitation-PCR, avidin-biotin-conjugated DNA precipitation, and luciferase reporter assays confirmed that NUR77 directly regulated the transcription of the inhibin-alpha gene through the specific NGFI-B response element located within its promoter. In the ovarian granulosa cells of the Nur77 knockout mice, the mRNA levels of inhibin-alpha were decreased relative to wild-type mice. These data indicate a role of NUR77 in the regulation of inhibin-alpha in ovarian granulosa cells.

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

Abstract: The INHα -16C/T and -124A/G polymorphisms are genetic factors associated with the prevalence of POF in Korean women.

Cited by 9 publications

References 22 publications

Genomic Markers of Ovarian Reserve

Genomic Markers of Ovarian Reserve

Genome-wide association studies and epistasis analyses of candidate genes related to age at menarche and age at natural menopause in a Korean population

FSH modulates the expression of inhibin‐alpha and the secretion of inhibins via orphan nuclear receptor NUR77 in ovarian granulosa cells

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