Is apolipoprotien E codon 112 polymorphisms associated with recurrent pregnancy loss?
OBJECTIVE
To compare the prevalence of 112T>C point mutations among women experiencing RPL with fertile control women.


METHODS
Buccal swabs were obtained from 232 individuals: 136 with a history of >or=2 abortions, 37 with at least 2 live births and 59 with a history of deep vein thrombosis (DVT). DNA was extracted and PCR amplification of Apo E codons was performed.


RESULTS
The allelic frequency of a cytosine at position 112 was 11.4% (31/272) among patients experiencing RPL, compared with a frequency of 5.4% (4/74) among the fertile controls (P = 0.19) and 19.5% (23/118) among individuals with a history of DVT. However, significantly more E3/E4 and E4/E4 genotypes were seen among individuals experiencing RPL and DVT than fertile controls (P < 0.05).


CONCLUSIONS
Apo E4 codon 112C point mutation is, by itself, not associated with an elevated risk of recurrent pregnancy loss, but rather codon 112C in association with codon 158C is a risk factor for RPL.
Ozornek
Hakan
H
EUROFERTIL Reproductive Health Center, Istanbul, Turkey.
Ergin
Elif
E
Jeyendran
Rajasingam S
RS
Ozay
Alev T
AT
Pillai
Delanie
D
Coulam
Carolyn
C
D000026:Abortion, Habitual / Q000453:epidemiology / Q000235:genetics*; D000328:Adult; D053327:Apolipoprotein E4 / Q000235:genetics; D001057:Apolipoproteins E / Q000235:genetics*; D003062:Codon; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D020033:Protein Isoforms / Q000235:genetics; D020246:Venous Thrombosis / Q000150:complications / Q000235:genetics
D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D003062:Codon; D020033:Protein Isoforms