A distribution of two SNPs in exon 10 of the FSHR gene among the women with a diminished ovarian reserve in Ukraine

Livshyts, G. B.; Podlesnaja, Svetlana; Kravchenko, S. A.; Sudoma, I.; Лившиц, Л. А.

doi:10.1007/s10815-008-9279-1

Cited by 43 publications

(35 citation statements)

References 26 publications

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“…The SNP at position 680 was the same serine substitution for arginine as in the study by Sheikhha et al [35]. Additionally, a second SNP at position 307 was also found, which changed threonine (Thr) to alanine (Ala) [36]. The investigators compared poor responders (n=39) together with the ovarian dysfunction group (n=102) to good responders (n=40), and two control groups, each normo-ovulatory and with children but stratified by age (control group I <35 years old, n =40; control group II >35 years old, n=130).…”

Section: Follicle-stimulating Hormone Receptor (Fshr)supporting

confidence: 61%

“…A similar study performed by Livshyts et al [36] examined two polymorphisms within the FSHR gene. The SNP at position 680 was the same serine substitution for arginine as in the study by Sheikhha et al [35].…”

Section: Follicle-stimulating Hormone Receptor (Fshr)mentioning

confidence: 89%

“…FSHR is G-protein coupled receptor, which is primarily located on granulosa cells in the ovary. Polymorphisms have been identified within the FSHR gene that differed in frequency among poor ovarian responders [35,36].…”

Section: Follicle-stimulating Hormone Receptor (Fshr)mentioning

confidence: 99%

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Genetic associations with diminished ovarian reserve: a systematic review of the literature

Greene

Patounakis

Segars

2014

J Assist Reprod Genet

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Section: Follicle-stimulating Hormone Receptor (Fshr)supporting

confidence: 61%

Section: Follicle-stimulating Hormone Receptor (Fshr)mentioning

confidence: 89%

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Genetic associations with diminished ovarian reserve: a systematic review of the literature

Greene

Patounakis

Segars

2014

J Assist Reprod Genet

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“…Numerous studies have examined polymorphisms in exon 10 in the human FSHR gene, including C1043G (Pro348Arg), G1255A (Ala419Thr), A1556C (Pro519Thr), C1717T (Arg573Cys), C1723T (Ala575Val), A919G (Thr307Ala), and A2039G (Asn680Ser) (Livshyts et al, 2009;Achrekar et al, 2010). Previous studies regarding FSHR polymorphisms in animals have mainly focused on the 5'-untranslated region and exon 1.…”

Section: Genetic Polymorphisms Of Fshrmentioning

confidence: 99%

Relationship between polymorphisms in exon 10 of FSHR gene and litter size in swine

et al. 2015

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ABSTRACT. Follicle-stimulating hormone (FSH), a glycoprotein secreted by the anterior pituitary, can regulate ovarian function through the FSH receptor (FSHR). To evaluate the effects of the FSHR gene on reproductive traits in pigs, polymorphisms in exon 10 of the FSHR gene were observed by polymerase chain reaction-single-strand conformation polymorphism, and 3 single nucleotide polymorphisms (C1491T, G1885A, and C1977T) in exon 10 of the porcine FSHR gene, and 3 genotypes (AA, AB, and BB) for C1491T and 2 haplotypes (D and E) for G1885A and C1977T were identified. Further analysis of single nucleotide polymorphism genotypes associated with reproductive traits including total number born (TNB) and number born alive (NBA) was carried out in 3 pig populations including Berkshire, Wannan Black (a Chinese indigenous pig breed), and BW pigs (two-way crossbred pigs produced from Berkshire ♂ and Wannan Black pig ♀). The results showed that the TNB and NBA of Wannan Black pigs with the AB genotype were significantly higher than in AA genotype sows (P < 0.01) 8253 FSHR gene association with litter size in swine ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (3): 8252-8261 (2015) in multiparity sows and all parities. The TNB and NBA of Berkshire pigs with the DE genotype were significantly higher than the DD and EE genotype sows (P < 0.01) in gilts, sows and all parities. Overall, TNB and NBA from the 3 identified genotypes was DE > DD > EE. The results showed that polymorphisms in exon 10 of the FSHR gene had a significant effect on litter size traits of Wannan Black and Berkshire pigs. These results can be applied for marker-assisted selection in the 2 swine breeds.

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“…Se expresa en células de la granulosa (9) e interviene en la maduración (39) y crecimiento de folículos antrales (40).…”

Section: Conclusiónunclassified

Insuficiencia ovárica prematura: una revisión

O³

2012

Rev. chil. obstet. ginecol.

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a Bióloga. b Químico Fármaco-Biólogo. c Médico. RESUMENLa insuficiencia ovárica prematura se caracteriza por amenorrea primaria o secundaria, hipoestrogenismo y niveles elevados de FSH (hormona folículo estimulante), que afecta a 1 de cada 100 mujeres menores de 40 años. Su etiología es multifactorial. Sólo en algunas pacientes se puede establecer una causa en particular, entre ellas: metabólicas, ambientales, autoinmunes, genéticas y iatrogénicas; siendo idiopáticos alrededor del 90% de los casos. Dentro de las causas genéticas se pueden considerar las alteraciones del cromosoma X y mutaciones en genes candidatos que regulan el desarrollo folicular. El tratamiento debe ser multidisciplinario, enfocado particularmente a la terapia de reemplazo hormonal y prevención de complicaciones. El asesoramiento genético es importante para que se tomen decisiones oportunas, sobre todo en aquellas pacientes que aún tienen la posibilidad de lograr un embarazo.PALABRAS CLAVE: Insuficiencia ovárica prematura, genes candidatos, amenorrea SUMMARYPremature ovarian insufficiency is characterized by primary or secondary amenorrhea, hypoestrogenism and elevated levels of FSH (follicle stimulating hormone), which affects 1 in 100 women under 40 years. Its etiology is multifactorial, however, only in some patients can be set a particular cause, including: metabolic, environmental, autoimmune, genetic and iatrogenic, being idiopathic more than 90% of the cases. Some of the genetic causes that can be seen are the X chromosome alterations and mutations in candidate genes that regulate follicular development. Treatment should be multidisciplinary, focusing particularly on hormone replacement therapy and prevention of complications of early menopause. Genetic counseling is important for to make timely decisions, particularly in those patients who still have a chance to get a pregnancy. KEY WORDS: Premature ovarian insufficiency, candidate genes, amenorrhea INTRODUCCIÓNLa insuficiencia ovárica prematura (IOP) también conocida como falla ovárica prematura o menopausia prematura, se define como el cese de la ovulación y las funciones ováricas endocrinas en mujeres menores de 40 años. El término fue propuesto por primera vez en 1942 por Fuller Albright, quién es considerado el padre de la endocrinología (1,2).

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A distribution of two SNPs in exon 10 of the FSHR gene among the women with a diminished ovarian reserve in Ukraine

Abstract: Our data shows the prevalence of the Ala307-Ser680/ Ala307-Ser680 genotype in the both groups of patients. The finding should have impact on the delineation of stimulation protocols.

Cited by 43 publications

References 26 publications

Genetic associations with diminished ovarian reserve: a systematic review of the literature

Genetic associations with diminished ovarian reserve: a systematic review of the literature

Relationship between polymorphisms in exon 10 of FSHR gene and litter size in swine

Insuficiencia ovárica prematura: una revisión

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