Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.

ABSTRACT:

Study question

Can spontaneous premature ovarian failure (POF) patients derived from population-based biobanks reveal the association between copy number variations (CNVs) and POF?

Summary answer

CNVs can hamper the functional capacity of ovaries by disrupting key genes and pathways essential for proper ovarian function.

What is known already

POF is defined as the cessation of ovarian function before the age of 40 years. POF is a major reason for female infertility, although its cause remains largely unknown.

Study design, size, duration

The current retrospective CNV study included 301 spontaneous POF patients and 3188 control individuals registered between 2003 and 2014 at Estonian Genome Center at the University of Tartu (EGCUT) biobank.

Participants/mater

SUBMITTER: Tsuiko O 

PROVIDER: S-EPMC4974666 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature