Polymorphism of MnSOD (Val16Ala) gene in pregnancies with blighted ovum: A case-control study|
Moshtaghi, Asiyeh; Vaziri, Hamidreza; Sariri, Reyhaneh & Shaigan, Hoorieh
Background: Blighted ovum is one of the most common reasons for abortion
during the first three months of pregnancy. Manganese superoxide dismutase
(MnSOD) is an important antioxidant enzyme in the human immune system. The
gene is located on 6q25 chromosome and acts on mitochondrial matrix. In the case
of mutation or inactivity of this enzyme, mitochondrial and nuclear DNA will
severely be destructed. The most common polymorphism of its gene is Val16Ala.
Objective: The aim was to investigate a possible mutation in pregnant women who
had abortion during the first trimester of pregnancy due to blighted ovum.
Materials and Methods: In this case-control study, 34 women were entered as the
case and control groups, respectively. Genome DNA was extracted from saliva
samples and its genotype was determined using Tetra-primer amplification
refractory mutation system polymerase chain reaction technique.
Results: In the case group, 16 (48%) cases had Val/Val genotype, 17 (50%) were
heterozygote and had Val/Ala genotype, and 1 (2%) had Ala/Ala genotype. Among
controls, 7 (22%) items had Val/Val genotype, 6 (17%) had Val/Ala genotype, and
21 (61%) had Ala/Ala genotype. The frequency of TT, CT, and CC genotypes was
48%, 50%, and 2% in case group and 22%, 17%, and 61% in control group,
respectively. Statistical analysis revealed a significant relationship between
Val16Ala polymorphism of MnSOD gene and blighted ovum (p= 0.0003).
Conclusion: It has concluded that a significant relationship exists between
Val16Ala polymorphism of MnSOD gene and blighted ovum.
Molecular genetic; Abnormalities; Blighted; Ovum; Abortion; Gestational sac; Superoxide dismutase