Polo-like kinase 4 and Stromal antigen 3 are not associated with recurrent pregnancy loss caused by embryonic aneuploidy.

Human Genome Variation
Hiroyuki YoshiharaKatsushi Tokunaga

Abstract

No genetic association with recurrent pregnancy loss (RPL) caused by embryonic aneuploidy has been found. Recent studies have indicated that the common genetic variant rs2305957, surrounding the PLK4 gene, contributes to mitotic-origin aneuploidy risk during human early embryo development. The decrease in meiosis-specific cohesin causes predivision of sister chromatids in the centromere and chromosome segregation errors. STAG3 is a component of cohesin and is a meiosis-specific gene. Our case-control study included 184 patients with RPL whose previous products of conception (POC) exhibited aneuploidy and 190 fertile control women without a history of miscarriage. We performed a genetic association study to examine the genotype distribution at PLK4 (rs2305957) and STAG3 in patients with RPL caused by aneuploidy compared with controls. Regarding STAG3, SNPs with a minor allele frequency (MAF) threshold > 0.05 that were predicted to be binding sites of transcription factors and that showed significant associations in expression quantitative trait locus (e-QTL) analysis were selected. No significant differences in the MAF or distribution in any model of PLK4 (rs2305957) and 5 selected tag SNPs in STAG3 were found between the patien...Continue Reading

References

Apr 3, 2001·Nature Reviews. Genetics·T Hassold, P Hunt
Aug 3, 2001·Nature Cell Biology·I PrietoJ L Barbero
Mar 25, 2005·American Journal of Human Genetics·Janis E WiggintonGoncalo R Abecasis
Oct 4, 2005·Lung Cancer : Journal of the International Association for the Study of Lung Cancer·Katsuhiko EndoYoshitaka Fujii
Oct 26, 2005·Nature Cell Biology·Robert HabedanckErich A Nigg
Dec 6, 2005·Current Biology : CB·M Bettencourt-DiasD M Glover
Jan 30, 2008·Genetic Epidemiology·Juan R GonzálezVictor Moreno
Apr 13, 2010·Nature Cell Biology·Tadashi IshiguroYoshinori Watanabe
May 17, 2012·Nature Reviews. Molecular Cell Biology·Yoshinori Watanabe
Jun 5, 2012·Human Reproduction·Mayumi Sugiura-OgasawaraEita Mizutani
Sep 8, 2012·Genome Research·Alan P BoyleMichael Snyder
Oct 26, 2012·Fertility and Sterility·UNKNOWN Practice Committee of American Society for Reproductive Medicine
Nov 26, 2013·Developmental Cell·Paula A CoelhoMagdalena Zernicka-Goetz
Mar 7, 2014·The New England Journal of Medicine·Sandrine CaburetEric Vilain
May 9, 2014·PloS One·Makiko TsutsumiHiroki Kurahashi

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Methods Mentioned

BETA
ChIP-seq
genotyping
PCR

Software Mentioned

Haplo
glm
CaTS
R
HaploView
Regulome
R haplo . stats package
SNPassoc

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