Selection pressure for the factor-V-Leiden mutation and embryo implantation.
The factor-V-Leiden mutation is seen in high frequencies in white people, despite its contribution to second-trimester abortion, preterm birth, and deep-vein thrombosis. The reason for its high frequency is not known. We investigated 102 mother-child pairs who had had successful in-vitro fertilisation by intracytoplasmic sperm injection as a model for human implantation. In 90% (9 of 10) of mother-child pairs who carried factor-V-Leiden mutation, the first embryo transfer was successful, compared with 49% (45 of 92) in factor-V-Leiden negative pairs (p=0.018, Fisher's exact test). Furthermore, the median number of unsuccessful transfers was lower in pairs who were positive for the mutation (0, range 0-2) than those who were negative (1, 0-8) (p=0.02, Mann Whitney U test) suggesting that improved implantation rate is an important genetic advantage of the factor-V-Leiden mutation.
Göpel
W
W
Ludwig
M
M
Junge
A K
AK
Kohlmann
T
T
Diedrich
K
K
Möller
J
J
D000328:Adult; D004624:Embryo Transfer; D005165:Factor V / Q000235:genetics*; D005260:Female; D005307:Fertilization in Vitro / Q000379:methods*; D006801:Humans; D008297:Male; D011247:Pregnancy
C095381:factor V Leiden; D005165:Factor V