TY - JOUR
T1 - Genetic associations with diminished ovarian reserve
T2 - A systematic review of the literature
AU - Greene, Alexis D.
AU - Patounakis, George
AU - Segars, James H.
N1 - Funding Information:
Funding This research was supported, in part, by the Program in Reproductive and Adult Endocrinology, NICHD, NIH and ZIA HD-008737-to JHS.
PY - 2014/8
Y1 - 2014/8
N2 - Purpose: Diminished ovarian reserve (DOR) affects 10 % of women seeking fertility treatment. Although it is much more prevalent than premature ovarian failure, less is known about its etiology. The purpose of this article is to review the possible genetic causes of, and associations with, pathologic DOR. Methods: A systematic review was conducted using PubMed from 1966 through November 2013. Results: Twenty-one articles identified genes associated with DOR: one gene mutation (FMR1), three polymorphisms (GDF9, FSHR, and ESR1), and seven genes differentially expressed between women with DOR and controls (AMH, LHCGR, IGF1, IGF2, IGF1R, IGF2R and GREM1). Six candidate genes were discovered in mice, including Foxl2, Gdf9, Bmp15, Aire, Wnt4, and Gpr3. Two case reports of chromosomal translocations were also identified. Conclusions: While the etiology of pathologic DOR is likely multifactorial, it is possible that many cases attributed to an idiopathic cause may have a genetic component. Larger studies are needed to expose the impact gene mutations, polymorphisms, and epigenetics have on pathologic DOR.
AB - Purpose: Diminished ovarian reserve (DOR) affects 10 % of women seeking fertility treatment. Although it is much more prevalent than premature ovarian failure, less is known about its etiology. The purpose of this article is to review the possible genetic causes of, and associations with, pathologic DOR. Methods: A systematic review was conducted using PubMed from 1966 through November 2013. Results: Twenty-one articles identified genes associated with DOR: one gene mutation (FMR1), three polymorphisms (GDF9, FSHR, and ESR1), and seven genes differentially expressed between women with DOR and controls (AMH, LHCGR, IGF1, IGF2, IGF1R, IGF2R and GREM1). Six candidate genes were discovered in mice, including Foxl2, Gdf9, Bmp15, Aire, Wnt4, and Gpr3. Two case reports of chromosomal translocations were also identified. Conclusions: While the etiology of pathologic DOR is likely multifactorial, it is possible that many cases attributed to an idiopathic cause may have a genetic component. Larger studies are needed to expose the impact gene mutations, polymorphisms, and epigenetics have on pathologic DOR.
KW - DOR
KW - Genes
KW - Genetic causes
KW - POR
KW - Poor ovarian reserve
KW - Premature ovarian aging
UR - http://www.scopus.com/inward/record.url?scp=84906315016&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84906315016&partnerID=8YFLogxK
U2 - 10.1007/s10815-014-0257-5
DO - 10.1007/s10815-014-0257-5
M3 - Review article
C2 - 24840722
AN - SCOPUS:84906315016
SN - 1058-0468
VL - 31
SP - 935
EP - 946
JO - Journal of Assisted Reproduction and Genetics
JF - Journal of Assisted Reproduction and Genetics
IS - 8
ER -