REYKJAVIK, Iceland, Jan. 29,
2024 /PRNewswire/ -- Scientists at deCODE
genetics, a subsidiary of Amgen, and their collaborators from
Iceland, Denmark, and the
USA published a study today
in Nature Structural & Molecular
Biology titled "Variant in the synaptonemal complex
protein SYCE2 associates with pregnancy loss through effects on
recombination".
While it is well established that chromosomal abnormalities are
a major cause of miscarriages the biology behind pregnancy losses
with or without chromosomal errors is not well understood. Over 114
thousand women from Iceland,
Denmark, the UK, USA, and Finland who have experienced pregnancy loss
participated in a genome-wide association study, testing 50 million
sequence variants. A low-frequency missense variant in the
SYCE2 gene was found to increase the risk of pregnancy loss
by 22%.
In a previous report by deCODE scientists this missense variant
was shown to associate with recombination phenotypes in chromosomes
that were transmitted from the mother. Recombination between
homologous chromosomes is an essential part of meiosis, the
generation of the human egg and sperm cell. The product of SYCE2
forms a part of a protein complex that is essential for the
alignment of homologous chromosomes for recombination and the
missense variant associated with pregnancy loss and recombination
is predicted to affect the stability of this protein complex.
A closer inspection of the effect of the variant on
recombination revealed an effect on the positioning of crossovers
that is proportional to the length of the chromosomes, the longer
the chromosome the larger the effect. The effect on recombination
is measured in live-born individuals. The authors propose that this
effect may be more extreme in pregnancies that are lost and may
contribute to pregnancy loss. The association with pregnancy loss
does not account for embryos lost in early gestation before
pregnancy has been detected so the effect of the variant on
pregnancy success may be underestimated.
The findings reported in this study demonstrate that a variant
with a substantial effect on recombinations can be maintained in
the population despite increasing the risk of pregnancy loss.
Based in Reykjavik, Iceland,
deCODE is a global leader in analyzing and understanding the human
genome. Using its unique expertise and population resources, deCODE
has discovered genetic risk factors for dozens of common diseases.
deCODE is a wholly-owned subsidiary of Amgen (NASDAQ:
AMGN).
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SOURCE deCODE genetics