Evidence for association of the rs605059 polymorphism of HSD17B1 gene with recurrent spontaneous abortions.
OBJECTIVE
To investigate whether the missense rs605059 polymorphism of HSD17B1 gene, which is expressed mainly in the placenta, is associated with recurrent spontaneous abortions (RSA).


METHODS
This study group consisted of 138 women with three or more unexplained spontaneous abortions, before the 20th week of gestation, with the same partner, while 140 healthy women served as controls. To genotype the individuals, we used the polymerase chain reaction-restriction fragment length polymorphism method.


RESULTS
The genotyping of the rs605059 polymorphism revealed the frequencies 0.22, 0.45 and 0.33, for AA, GA and GG genotypes, respectively, for the patient group and 0.37, 0.41 and 0.22, respectively, for the control group. The A allele frequencies were 0.44 and 0.57 for the patient and control group, respectively, and the G allele frequencies were 0.56 and 0.43 for the patient and control group, respectively. Statistical analysis of the results indicated the existence of significant differences in genotype and allele frequencies between the two groups.


CONCLUSIONS
The rs605059 polymorphism of the HSD17B1 gene is associated with increased risk of RSA in our Caucasian Greek population. Thus it could be used as a prognostic genetic marker for RSA.
a Department of Genetics and Biotechnology, Faculty of Biology , University of Athens , Athens , Greece .
Panagiotis
P
Ntostis
a Department of Genetics and Biotechnology, Faculty of Biology , University of Athens , Athens , Greece .
Konstantinos
K
Agiannitopoulos
b Department of Cell Biology and Biophysics, Faculty of Biology , University of Athens , Athens , Greece , and.
Georgios
G
Tsaousis
c Genesis Athens, In Vitro Fertilization Clinic , Athens , Greece.
Konstantinos
K
Pantos
a Department of Genetics and Biotechnology, Faculty of Biology , University of Athens , Athens , Greece .
Klea
K
Lamnissou
D000026:Abortion, Habitual / Q000235:genetics*; D016022:Case-Control Studies; D004960:Estradiol Dehydrogenases / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy
D005819:Genetic Markers; D004960:Estradiol Dehydrogenases; C513331:HSD17B1 protein, human
Genetic polymorphism; HSD17B1 gene; recurrent spontaneous abortions; risk factor