TY - JOUR
T1 - “Evaluation of four genes associated with primary ovarian insufficiency in a cohort of Mexican women”
AU - Juárez-Rendón, K. J.
AU - García-Ortiz, J. E.
N1 - Publisher Copyright:
© 2018, Springer Science+Business Media, LLC, part of Springer Nature.
PY - 2018/8/1
Y1 - 2018/8/1
N2 - Purpose Primary ovarian insufficiency (POI) is a clinical condition observed in women younger than 40 years of age, characterized by amenorrhea, hypoestrogenism, high levels of follicle-stimulating hormone (FSH), and infertility. Mutations in somemaster regulators of the development, maturation, and maintenance of ovarian follicles such as BMP15, FSHR, FOXL2, andGDF9 have been suggested as etiological factors in the development of POI. The aim of this study, the first in the Mexicanpopulation, is to evaluate the presence of mutations or polymorphisms in these four candidate genes.Methods In a sample of 20 Mexican patients with idiopathic POI, we looked for and analyzed genetic variants in BMP15, FSHR,FOXL2, and GDF9 genes.Results We observed two polymorphisms: a coding change, c.919G>A (p.Ala307Thr), in the FSHR gene and a synonymousvariant, c.447C>T (p.Thr149Thr), in the GDF9 gene. These two variants have been reported previously as polymorphisms (rs6165and rs254286, respectively). We observed no significant difference associated with POI in the patients when compared with ahealthy control group (p > 0.05). Also, no exonic variants were found for the genes BMP15 and FOXL2 in the individuals tested.Conclusions The lack of association of the evaluated genes in this sample of Mexican women is consistent with the complexgenetic etiology of POI that is observed across cohorts studied thus far
AB - Purpose Primary ovarian insufficiency (POI) is a clinical condition observed in women younger than 40 years of age, characterized by amenorrhea, hypoestrogenism, high levels of follicle-stimulating hormone (FSH), and infertility. Mutations in somemaster regulators of the development, maturation, and maintenance of ovarian follicles such as BMP15, FSHR, FOXL2, andGDF9 have been suggested as etiological factors in the development of POI. The aim of this study, the first in the Mexicanpopulation, is to evaluate the presence of mutations or polymorphisms in these four candidate genes.Methods In a sample of 20 Mexican patients with idiopathic POI, we looked for and analyzed genetic variants in BMP15, FSHR,FOXL2, and GDF9 genes.Results We observed two polymorphisms: a coding change, c.919G>A (p.Ala307Thr), in the FSHR gene and a synonymousvariant, c.447C>T (p.Thr149Thr), in the GDF9 gene. These two variants have been reported previously as polymorphisms (rs6165and rs254286, respectively). We observed no significant difference associated with POI in the patients when compared with ahealthy control group (p > 0.05). Also, no exonic variants were found for the genes BMP15 and FOXL2 in the individuals tested.Conclusions The lack of association of the evaluated genes in this sample of Mexican women is consistent with the complexgenetic etiology of POI that is observed across cohorts studied thus far
KW - BMP15
KW - FOXL2
KW - FSHR
KW - GDF9
KW - Mexican population
KW - Primary ovarian insufficiency
UR - http://www.scopus.com/inward/record.url?scp=85048688600&partnerID=8YFLogxK
U2 - 10.1007/s10815-018-1232-3
DO - 10.1007/s10815-018-1232-3
M3 - Artículo
C2 - 29916099
AN - SCOPUS:85048688600
SN - 1058-0468
VL - 35
SP - 1483
EP - 1488
JO - Journal of Assisted Reproduction and Genetics
JF - Journal of Assisted Reproduction and Genetics
IS - 8
ER -