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Is apolipoprotien E codon 112 polymorphisms associated with recurrent pregnancy loss?

Hakan Ozornek¹, Elif Ergin, Rajasingam S Jeyendran

¹EUROFERTIL Reproductive Health Center, Istanbul, Turkey.

American Journal of Reproductive Immunology (New York, N.Y. : 1989)

|February 24, 2010

Summary

The 112C point mutation in Apolipoprotein E (Apo E) is not linked to recurrent pregnancy loss (RPL) alone. However, this mutation combined with the 158C variant is a significant risk factor for RPL.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Genetics
Reproductive Medicine
Thrombosis

Background:

Recurrent pregnancy loss (RPL) affects a significant number of women.
Apolipoprotein E (Apo E) gene polymorphisms have been investigated for their role in various conditions, including pregnancy complications.

Purpose of the Study:

To investigate the association between the 112T>C point mutation in the Apo E gene and recurrent pregnancy loss (RPL).
To compare the prevalence of this mutation in women with RPL, fertile controls, and individuals with a history of deep vein thrombosis (DVT).

Main Methods:

Genotyping of 232 individuals (136 with RPL, 37 fertile controls, 59 with DVT history) using buccal swabs.
DNA extraction and Polymerase Chain Reaction (PCR) amplification of Apo E codons.

Main Results:

The allelic frequency of cytosine at position 112 was higher in RPL patients (11.4%) and DVT patients (19.5%) compared to fertile controls (5.4%).
Significantly higher frequencies of E3/E4 and E4/E4 genotypes were observed in women with RPL and DVT compared to fertile controls (P < 0.05).

Conclusions:

The Apo E 112C point mutation alone is not associated with an increased risk of RPL.
The combination of the 112C and 158C variants of the Apo E gene is identified as a risk factor for recurrent pregnancy loss.