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Genetic Aspects of Female Infertility
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Genetic Aspects of Female Infertility

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (19 June 2020) | Viewed by 6954

Special Issue Editors

Prof. Dr. Stéphane Viville

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Guest Editor
University of Strasbourg, 67000 Strasbourg, France
Dr. Özlem Okutman

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Guest Editor
University of Strasbourg, 67084 Strasbourg, France

Special Issue Information

Dear Colleagues,

We are writing to invite you to contribute to a Special Issue in Genes that will focus on “Genetics of Female Infertility”. Infertility is a global health problem, where one in every four couples in developing countries had been found to be affected by infertility. The inability to conceive naturally or to carry a pregnancy to full term is defined as female infertility, which alone accounts for approximately one-third of all infertility cases. The fertility of women tends to decrease well before general signs of menopause appear, and is also adversely affected by common reproductive diseases, including polycystic ovarian syndrome (PCOS) and endometriosis, as well as the cumulative effects of environmental exposures and lifestyle.

The most common causes of female infertility include problems with ovulation, damage to fallopian tubes or uterus, or problems with the cervix. There is growing evidence that genetic abnormalities are present in as many as 10% of infertile females, among which chromosomal abnormalities and single gene mutations contribute to the causes of infertility. New genetic tools that implement a whole-genome approach have led to the identification of an increasing number of gene mutations as the cause of specific infertility phenotypes.

In this Special Issue of Genes, we welcome reviews, mini-reviews, new methods, and original research articles that highlight our current knowledge and advance our understanding of the genetic aspects of female infertility. These include, but are not limited to, studies aiming to understand female gametogenesis, identification of underlying causes of infertility, genetic workflow in clinical applications, the development of new diagnostic tools, and research into noninvasive diagnostic markers to reduce surgical risk and facilitate early treatment. We look forward to your contributions.

Prof. Stéphane Viville
Dr. Özlem Okutman
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • female infertility
  • oogenesis
  • chromosomal abnormalities in female infertility
  • monogenic female infertility
  • gene panels in infertility
  • genetic markers

Published Papers (3 papers)

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11 pages, 1619 KiB  
Article
Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect
by Özlem Okutman, Cem Demirel, Firat Tülek, Veronique Pfister, Umut Büyük, Jean Muller, Nicolas Charlet-Berguerand and Stéphane Viville
Genes 2020, 11(4), 382; https://0-doi-org.brum.beds.ac.uk/10.3390/genes11040382 - 01 Apr 2020
Cited by 19 | Viewed by 2751
Abstract
In vitro fertilization (IVF) involves controlled ovarian hyperstimulation using hormones to produce large numbers of oocytes. The success of IVF is tightly linked to the availability of mature oocytes. In most cases, about 70% to 80% of the oocytes are mature at the [...] Read more.
In vitro fertilization (IVF) involves controlled ovarian hyperstimulation using hormones to produce large numbers of oocytes. The success of IVF is tightly linked to the availability of mature oocytes. In most cases, about 70% to 80% of the oocytes are mature at the time of retrieval, however, in rare instances, all of them may be immature, implying that they were not able to reach the metaphase II (MII) stage. The failure to obtain any mature oocytes, despite a well conducted ovarian stimulation in repeated cycles is a very rare cause of primary female infertility, for which the underlying suspected genetic factors are still largely unknown. In this study, we present the whole exome sequencing analysis of a consanguineous Turkish family comprising three sisters with a recurrent oocyte maturation defect. Analysis of the data reveals a homozygous splice site mutation (c.1775-3C>A) in the zona pellucida glycoprotein 1 (ZP1) gene. Minigene experiments show that the mutation causes the retention of the intron 11 sequence between exon 11 and exon 12, resulting in a frameshift and the likely production of a truncated protein. Full article
(This article belongs to the Special Issue Genetic Aspects of Female Infertility)
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13 pages, 270 KiB  
Article
Study of the Association between microRNA (miR-25T>C, miR-32C>A, miR-125C>T, and miR-222G>T) Polymorphisms and the Risk of Recurrent Pregnancy Loss in Korean Women
by Jeong Yong Lee, Jung Oh Kim, Han Sung Park, Chang Soo Ryu, Ji Hyang Kim, Young Ran Kim, Woo Sik Lee, Jung Ryeol Lee and Nam Keun Kim
Genes 2020, 11(4), 354; https://0-doi-org.brum.beds.ac.uk/10.3390/genes11040354 - 26 Mar 2020
Cited by 11 | Viewed by 2152 | Correction
Abstract
Recurrent pregnancy loss (RPL), which is defined as two pregnancy losses that occur before 20 weeks of gestation, is relatively common, occurring in approximately 1–5% of women. The underlying cause is often unclear, although numerous factors may contribute to RPL, including environmental and [...] Read more.
Recurrent pregnancy loss (RPL), which is defined as two pregnancy losses that occur before 20 weeks of gestation, is relatively common, occurring in approximately 1–5% of women. The underlying cause is often unclear, although numerous factors may contribute to RPL, including environmental and immunological factors, blood coagulation disorders, and genetics. In particular, single nucleotide variants have been associated with RPL, including those found in microRNAs (miRNAs). We investigated the association between four miRNA polymorphisms, miR-25T>C, miR-32C>A, miR-125aC>T, and miR-222G>T, and RPL in a cohort consisting of 361 RPL patients and 272 controls. Subjects were genotyped at miRNA loci by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis, and genotype frequencies were calculated. We then performed allele and genotype combination analyses and measured the association between miRNA polymorphisms and clinical variables in both RPL patients and controls. We detected a statistically significant association between RPL and the miR-25T/miR-32C/miR-125aT/miR-222T allele combination (adjusted odds ratio (AOR), 4.361; 95% confidence interval (CI), 1.496–12.72; P = 0.003). Three-gene combinations, including miR-32C/miR-125aT/miR-222T (AOR, 3.085; 95% CI, 1.254–7.588; P = 0.010) and miR-25T/miR-125aT/miR-222T (AOR, 2.929; 95% CI, 1.183–7.257; P = 0.015), and the two-gene combination miR-125aT/miR-222T (AOR, 2.417; 95% CI, 1.084–5.386; P = 0.026) were also associated with RPL. Analysis of variance (ANOVA) revealed that platelet counts and blood urea nitrogen levels were significantly different in RPL patients expressing different miR-125aC>T and miR-25T>C genotypes, respectively (P < 0.05). In addition, creatinine levels were lower in RPL patients expressing the minor alleles miR-25T>C and miR-32C>A. We investigated miRNAs (miR-25, miR-32, miR-125a, miR-222) in RPL patients and healthy controls. Significantly different allele frequencies were detected by ANOVA. We suggest that miRNAs and clinical factors can impact RPL occurrence. Full article
(This article belongs to the Special Issue Genetic Aspects of Female Infertility)

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2 pages, 159 KiB  
Correction
Correction: Kim, N.K., et al. Study of the Association between microRNA (miR-25T>C, miR-32C>A, miR-125C>T, and miR-222G>T) Polymorphisms and the Risk of Recurrent Pregnancy Loss in Korean Women. Genes 2020, 11, 354
by Jeong Yong Lee, Jung Oh Kim, Han Sung Park, Chang Soo Ryu, Ji Hyang Kim, Young Ran Kim, Woo Sik Lee, Jung Ryeol Lee and Nam Keun Kim
Genes 2020, 11(8), 948; https://0-doi-org.brum.beds.ac.uk/10.3390/genes11080948 - 17 Aug 2020
Cited by 3 | Viewed by 1652
Abstract
The authors wish to make a correction to the published version of their paper [...] Full article
(This article belongs to the Special Issue Genetic Aspects of Female Infertility)
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