Mutations of Two Major Coagulation Factors Are Not Associated with Male Infertility.
BACKGROUND
Thrombophilia-related mutations, such as coagulation factor V Leiden and factor II (G20210A), have been associated with female infertility due to spontaneous abortions during pregnancy. The possible role of mutations of these two factors in male infertility has not been studied to date.


METHODS
A total of 208 unrelated Greek men were investigated, including 108 infertile men with idiopathic oligozoospermia, azoospermia, and oligozoospermia of various etiologies, as well as 100 fertile male controls. DNA extracted from participants' sperm or blood was analyzed for factor V Leiden and factor II G20210A mutations.


RESULTS
There were no significant differences in factor V and factor II genotypes between infertile men and normal controls.


CONCLUSIONS
An association of the two common thrombophilia-related mutations with male infertility was not observed in this preliminary study.
Department of Molecular Genetics, Cephalogenetics Diagnostic Center, Athens, Greece cyapi@med.uoa.gr.|First Department of Neurology, University of Athens Medical School, Eginition Hospital, Athens, Greece.
Christos
C
Yapijakis
Department of Molecular Genetics, Cephalogenetics Diagnostic Center, Athens, Greece.
Nikos
N
Pachis
Department of Oral and Maxillofacial Surgery, Evangelismos General Hospital, Athens, Greece.
Dimitris
D
Avgoustidis
Department of Molecular Genetics, Cephalogenetics Diagnostic Center, Athens, Greece.
Mary
M
Adamopoulou
Department of Molecular Genetics, Cephalogenetics Diagnostic Center, Athens, Greece.
Zoe
Z
Serefoglou
D000483:Alleles; D053713:Azoospermia / Q000097:blood / Q000235:genetics; D005165:Factor V / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006115:Greece; D006801:Humans; D007248:Infertility, Male / Q000097:blood / Q000235:genetics*; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000097:blood / Q000235:genetics; D011516:Prothrombin / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin
Male infertility; coagulation factors; mutations