POLIMORFISME GENA METILEN TETRAHIDROFOLAT REDUKTASE, PROTOMBIIN, FAKTOR V LEIDEN, INTERSELULAR ADHESI MATRIKS-1, NITRIT OKSID SINTASE-3, SEBAGAI FAKTOR RISIKO GASTROSISIS
Introduction: Gastroschisis is a birth defect involving extrusion of fetal intestines through a defect in the right side umbilical abdominal wall. Interruption of the blood flow in the vascular plexus that will form the right vitelline arteries (inferior omphalomesenteric artery) has been proposed a...
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| Main Authors: | , |
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| Format: | Theses and Dissertations NonPeerReviewed |
| Published: |
[Yogyakarta] : Universitas Gadjah Mada
2014
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| Subjects: | |
| Online Access: | https://repository.ugm.ac.id/130308/ http://etd.ugm.ac.id/index.php?mod=penelitian_detail&sub=PenelitianDetail&act=view&typ=html&buku_id=70728 |
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| Institution: | Universitas Gadjah Mada |
| Summary: | Introduction: Gastroschisis is a birth defect involving extrusion of fetal intestines
through a defect in the right side umbilical abdominal wall. Interruption of the blood flow
in the vascular plexus that will form the right vitelline arteries (inferior
omphalomesenteric artery) has been proposed as the mechanism by which Gastroschisis
occurs. We hypothesized that affected fetuses have a genetic predisposition to arterial or
venous thromboembolism, defect in the integrity of the dermis and the angiogenesis.
Patients and Methods: In a case-control study of 39 cases of Gastroschisis and 39
ethnic-matched controls in Indonesian population, we analyzed 5 single nucleotide
polymorphisms (SNPs) of MTHFR c.677C>T, Prothrombin c.20210G>A, Factor V
Leiden c.1691G>A, ICAM1 c.1462A>G, and NOS3 c.894G>T using Polymerase Chain
Reaction � Restriction Fragment Length Polymorphism technique. For control group of
each study, the observed genotype frequencies of 5 SNPs were assessed for Hardy�
Weinberg equilibrium using �2 test. The strength of association was accessed by
calculating odds ratios (ORs) and 95% confidence intervals (CIs). The pooled ORs were
performed for allelic genetic model (T vs. C, A vs. G, A vs. G, A vs. G, and T vs. G),
dominant model (TT+CT vs. CC, AA+AG vs. GG, AA+AG vs. GG, AA+AG vs. GG,
and TT+GT vs. GG), and recessive model (TT vs. CT+CC, AA vs. AG+GG, AA vs.
AG+GG, AA vs. AG+GG, and TT vs. GT+GG), respectively.
Results: TT genotype of MTHFR c.677C>T showed marginally significant association
with Gastroschisis at p-value of 0.09 (OR=12.57 |
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