Genetics of premature ovarian failure.
OBJECTIVE
To provide an overview on the genetic basis of premature ovarian failure (POF) with specific attention to recently published molecular genetic studies.


RESULTS
POF is an insidious cause of female infertility. Despite enormous efforts to understand the genetic pathogenesis, we know almost nothing but Turner syndrome and Fragile X syndrome. The era of genome-wide association studies opened a new window into the understanding of the complex, polygenic nature of ovarian failure by identifying several candidate regions. Most of the genes in these regions are waiting for confirmation in isolated POF cohorts. Recently, molecular evidence on the regulatory role of small noncoding RNAs in folliculogenesis and oocyte development began to emerge. The association between certain microRNA polymorphisms and POF has been reported.


CONCLUSIONS
Although there exist numerous candidate genes in the literature, a few of them have comprehensive and consistent molecular workup that showed strong genotype/phenotype association.
Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, USA.
Ekrem M
EM
Bilgin
Ertug
E
Kovanci
D051722:ADAM Proteins / Q000235:genetics; D000071096:ADAMTS Proteins; D005260:Female; D005640:Follicle Stimulating Hormone / Q000235:genetics; D005600:Fragile X Syndrome / Q000150:complications / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D007247:Infertility, Female / Q000209:etiology / Q000235:genetics*; D007265:Inhibins / Q000235:genetics; D006080:Ovarian Follicle / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D016649:Primary Ovarian Insufficiency / Q000150:complications / Q000235:genetics*; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics
C094377:inhibin-alpha subunit; D007265:Inhibins; D005640:Follicle Stimulating Hormone; D013254:Steroid 17-alpha-Hydroxylase; D051722:ADAM Proteins; D000071096:ADAMTS Proteins; C544648:ADAMTS19 protein, human