Mutational analysis of the betaglycan gene-coding region in susceptibility for ovarian failure

Human Reproduction
H DixitL Singh

Abstract

Elevation of FSH is frequently a consequence of impaired ovarian follicle growth. Down-regulation of the FSH levels by inhibins is mediated through its receptor betaglycan in the gonadotrophs. Understanding of germline status of the betaglycan gene (TGFBR3) is essential for ovarian failure pathophysiology. Sequence analysis was performed for the coding region of TGFBR3 gene in a cohort of 196 ovarian failure cases that include 133 premature ovarian failure (POF) cases, 63 primary amenorrhoea (PA) cases compared with 200 controls. Forty-six variants including six novel exonic variants and 16 novel intronic variants were revealed. Two variants were missense: (i) p.Iso184Val in a control and (ii) p.Pro775Ser in a POF case. Genotypic distribution of three variants (c.382-81C>T, c.382-77T>C and c.1200G>A) was significantly different in the patients as compared with the controls. Five variants c.382-81C>T, c.382-77T>C, c.566-216G>A, c.1200G>A and c.2022T>C were chosen for haplotyping. The CCAAT haplotype was significantly higher in the patient population as compared with the controls (P = 0.00007). This study establishes the first mutational report of the TGFBR3 gene in correlation with ovarian failure. Significant diversity of genot...Continue Reading

References

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Citations

Sep 8, 2011·Human Reproduction Update·UNKNOWN Evian Annual Reproduction (EVAR) Workshop Group 2010C M Howles
Jan 2, 2008·European Journal of Endocrinology·Béatrice Mandon-PépinMarc Fellous
Sep 18, 2014·Journal of Assisted Reproduction and Genetics·Cristina Fortuño, Elena Labarta
Jul 16, 2011·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Chun-rong QinWei-qing Wu
Jul 27, 2010·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Paolo Giovanni ArtiniAndrea Riccardo Genazzani
Apr 24, 2012·Molecular and Cellular Endocrinology·Maree Bilandzic, Kaye L Stenvers
Nov 1, 2011·Reproductive Biomedicine Online·Chun-rong QinJian-sheng Xie
Apr 13, 2010·Reproductive Biomedicine Online·Hridesh DixitLalji Singh
Dec 17, 2009·Trends in Endocrinology and Metabolism : TEM·Kaye L Stenvers, Jock K Findlay
Jun 16, 2009·Molecular and Cellular Endocrinology·Ruth M EscalonaGuck T Ooi
Aug 6, 2015·Human Reproduction Update·Yingying QinZi-Jiang Chen
May 10, 2011·Molecular and Cellular Endocrinology·Maree Bilandzic, Kaye L Stenvers
Apr 6, 2016·Menopause : the Journal of the North American Menopause Society·Patsama Vichinsartvichai
Oct 20, 2020·Clinical Obstetrics and Gynecology·Rukayat O Akande, Yetunde Ibrahim

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