Association of the genetic variants of luteinizing hormone, luteinizing hormone receptor and polycystic ovary syndrome

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Abstract

Background

High circulating luteinizing hormone (LH) level is a typical biochemical feature of polycystic ovary syndrome (PCOS) whose pathophysiology is still unclear. Certain mutations of LH and LH receptor (LHR) may lead to changes in bioactivity of these hormones. The aim of this study was determine the role of the LH and LHR polymorphisms in the pathogenesis of PCOS using a genetic approach.

Methods

315 PCOS women and 212 controls were screened for the gene variants of LH G1052A and LHR rs61996318 polymorphisms by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP).

Results

PCOS patients had significantly more A allele frequency of LH G1052A mutations than controls (p=0.001). Within PCOS group, carriers of LH 1052A allele had lower LH (p=0.05) and higher fasting glucose levels (p=0.04). No subjects were identified with LHR rs61996318 polymorphisms. A new LHR single nucleotide polymorphism (SNP) was found without clear association with PCOS.

Conclusions

Results suggested LH G1052A mutation might influence PCOS susceptibility and phenotypes.

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Most cited references 28

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Characterization of the inappropriate gonadotropin secretion in polycystic ovary syndrome.

G W Vandenberg, F. Naftolin, Sherwin S. Yen … (1976)

To evaluate gonadotropin release in polycystic ovary syndrome (PCO), one or more of the following hypothalamic-pituitary function tests were performed on 24 patients with the syndrome. These tests included (a) the pulsatile pattern and day-to-day fluctuation of gonadotropin release; (b) effects of exogenous estrogen and antiestrogen (clomiphene) administration on gonadotropin release; and (c) pituitary responsiveness to maximal (150 mug) and submaximal (10 mug) luteinizing hormone-releasing factor (LRF) injections. In 10 of the 14 patients sampled frequently (15 min) for 6 h, luteinizing hormone (LH) levels were elevated above the concentration seen in normal cycling women (except the LH surge). These high LH concentrations appeared to be maintained by and temporally related to the presence of exaggerated pulsatile LH release, either in the form of enhanced amplitude or increased frequency. In all subjects, levels of follicle-stimulating hormone (FSH) were low or low normal, and a pulsatile pattern was not discernible. In four patients, daily sampling revealed marked day-to-day fluctuation of LH but not FSH. That the elevated LH levels were not related to a defect in the negative-feedback effect of estrogen was suggested by the appropriate fall of LH in four patients given an acute intravenous infusion of 17beta-estradiol. This infusion had no effect on FSH levels. In addition, clomiphene elicited rises of both LH and FSH that were comparable to the ones observed in normal women given the same treatment. The clomiphene study also suggested that the positive-feed-back mechanism of estrogen on LH release was intact when the preovulatory rises of 17beta-estradiol induced appropriate LH surges. The elevated LH levels appeared to be related to a heightened pituitary responsiveness to the LRF. This was found in the 11 and 2 patients given maximal (150 mug) and submaximal (10 mug) doses of LRF, respectively. The augmented pituitary sensitivity for LH release correlated with the basal levels of both estrone (P less than 0.025) and 17beta-estradiol (P less than 0.02). The net increase in FSH was significantly greater (P less than 0.001) in the PCO patients than the normal women with maximal doses of LRF. With the smaller dose study none of the injections had a discernible effect on FSH concentrations in either subject. The disparity between LH and FSH secretion could be explained by the preferential inhibitory action of estrogen on FSH release, coupled with a relative insensitivity of FSH release. These data indicate that in these PCO patients the abnormalities of the hypothalamic-pituitary regulation of gonadotropin secretion was not an inherent defect but represented a functional derangement consequent to inappropriate estrogen feedback, which led to a vicious cycle of chronic anovulation and inappropriate gonadotropin secretion.

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Mutations in human gonadotropin and gonadotropin-receptor genes.

Axel P N Themmen, I. Huhtaniemi (2005)

This short review provides an update on the new information that has become available in the recent years about mutations and polymorphisms in the genes for gonadotropins and their receptors. Combining the types and locations of the mutations, their phenotypic effects, and the recently emerged information about the crystal structure of these molecules is providing us with increasingly detailed picture about the structure-function relationships of gonadotropin action.

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New Approach to Polycystic Ovary Syndrome and Other Forms of Anovulatory Infertility

Joop Laven, Babak Imani, Marinus Eijkemans … (2002)

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Author and article information

Journal

Journal ID (nlm-ta): Reprod Biol Endocrinol

Journal ID (iso-abbrev): Reprod. Biol. Endocrinol

Title: Reproductive Biology and Endocrinology : RB&E

Publisher: BioMed Central

ISSN (Electronic): 1477-7827

Publication date Collection: 2012

Publication date (Electronic): 30 April 2012

Volume: 10

Page: 36

Affiliations

[1 ]Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, Peoples Republic of China

[2 ]Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing, 100191, China

[3 ]Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproduction, Beijing, 100191, China

[4 ]Reproductive Medical Centre, Beijing Obstetrics and Gynecology Hospital affiliated of Capital Medical University, Beijing, 100026, China

Article

Publisher ID: 1477-7827-10-36

DOI: 10.1186/1477-7827-10-36

PMC ID: 3403896

PubMed ID: 22546001

SO-VID: f53a0ea3-2dc6-4a0c-b9d4-0d47a023e90d

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Association of the genetic variants of luteinizing hormone, luteinizing hormone receptor and polycystic ovary syndrome

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Abstract

Background

Methods

Results

Conclusions

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Karger: Endocrinology

Most cited references 28

Characterization of the inappropriate gonadotropin secretion in polycystic ovary syndrome.

Mutations in human gonadotropin and gonadotropin-receptor genes.

New Approach to Polycystic Ovary Syndrome and Other Forms of Anovulatory Infertility

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