Non-synonymous sequence variants within the oxygen-dependent degradation domain of the <it>HIF1A </it>gene are not associated with pre-eclampsia in the Finnish population
<p>Abstract</p> <p>Background</p> <p>Reduced placental perfusion predisposes to the maternal syndrome pre-eclampsia characterized by systemically reduced perfusion. Considerable data support the role of angiogenic factors in the development of the maternal syndrome. Hyp...
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| Main Authors: | , , , |
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| Format: | Book |
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BMC,
2008-11-01T00:00:00Z.
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| Summary: | <p>Abstract</p> <p>Background</p> <p>Reduced placental perfusion predisposes to the maternal syndrome pre-eclampsia characterized by systemically reduced perfusion. Considerable data support the role of angiogenic factors in the development of the maternal syndrome. Hypoxia-inducible factor (HIF-1) mediates the cellular responses to hypoxia e.g. by promoting angiogenesis.</p> <p>Methods</p> <p>Here we studied whether two single nucleotide sequence variants, c.1744 C>T that changes residue 582 of HIF-1α from proline to serine (P582S) and c.1762 G>A that changes residue 588 of HIF-1α from alanine to threonine (A588T) in the exon 12 of the <it>HIF1A </it>gene, are associated with pre-eclampsia. We studied 108 women with pre-eclampsia in their first pregnancy, and 101 controls with normotensive pregnancies. Pre-eclampsia was defined as a blood pressure level of at least 140/90 mmHg in a woman who was normotensive before 20 weeks of gestation, and proteinuria at least of 0.3 g per 24-hour urine collection. The patients and controls were genotyped for variations in the exon 12 of <it>HIF1A </it>gene by sequencing</p> <p>Results</p> <p>The frequencies of the c.1744 C>T and c.1762G>A sequence variants were not significantly different between women with pre-eclamptic first pregnancies and women with normotensive pregnancies. In addition, two synonymous variants (c.1740G>A and c.1800A>T) were detected at comparable levels in the two groups. All variants were identified in the heterozygous form.</p> <p>Conclusion</p> <p>The sequence variants in the exon 12 of the <it>HIF1A </it>gene were not associated with pre-eclampsia in the Finnish population.</p> |
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| Item Description: | 10.1186/1471-2350-9-96 1471-2350 |