Polymorphisms in the hypoxia-inducible factor 1 alpha gene in Mexican patients with preeclampsia: A case-control study

Abstract

BackgroundAlthough the etiology of preeclampsia is still unclear, recent work suggests that changes in circulating angiogenic factors play a key role in its pathogenesis. In the trophoblast of women with preeclampsia, hypoxia-inducible factor 1 alpha (HIF-1α) is over-expressed, and induces the expression of non-angiogenic factors and inhibitors of trophoblast differentiation. This observation prompted the study of HIF-1α and its relation to preeclampsia. It has been described that the C1772T (P582S) and G1790A (A588T) polymorphisms of the HIF1A gene have significantly greater transcriptional activity, correlated with an increased expression of their proteins, than the wild-type sequence. In this work, we studied whether either or both HIF1A variants contribute to preeclampsia susceptibility.ResultsGenomic DNA was isolated from 150 preeclamptic and 105 healthy pregnant women. Exon 12 of the HIF1A gene was amplified by PCR, and the genotypes of HIF1A were determined by DNA sequencing.In preeclamptic women and controls, the frequencies of the T allele for C1772T were 4.3 vs. 4.8%, and the frequencies of the A allele for G1790A were 0.0 vs. 0.5%, respectively. No significant differences were found between groups.ConclusionThe frequency of the C1772T and G1790A polymorphisms of the HIF1A gene is very low, and neither polymorphism is associated with the development of preeclampsia in the Mexican population.

Polymorphic variation of hypoxia inducible factor-1 A (HIF1A) gene might contribute to the development of knee osteoarthritis: a pilot study

“…Additionally, endochondral ossification process is triggered by the development of osteophytes. WISP-1 is an osteogenic factor and an osteoblast differentiation factor that has been studied in OA models, in which an increase in its expression was reported [ 32 , 33 ]. WISP-1 is a member of the CCN family of connective tissue growth factors, which also includes WISP-2 and WISP-3.…”

“…It have been described polymorphic variants within the HIF1A gene; for example, the rs11549465 (P582S), and rs11549467(A588T) single-nucleotide polymorphisms (SNPs) are located in exon 12, on 14 th chromosome and influence the transcriptional activity of this gene to increase dramatically in comparison with the common isoform [ 32 , 33 ].…”

Polymorphism in the Hypoxia-Inducible Factor 1alpha Gene May Confer Susceptibility to LDD in Chinese Cohort

“…In vitro studies have demonstrated that the C1772T (P582S) and G1790A (A588T) polymorphisms of the HIF-1α gene under normoxic and hypoxic conditions show a higher transcriptional activity correlated with the overexpression of the corresponding protein than the transcriptional activity and protein expression of the wild-type sequence [27–29]. In clinical practice, the presence of these polymorphisms is associated with the development of diseases such as cancer, diabetes, and coronary disease, in which an altered HIF-1α is observed in various groups among different populations [30–32].…”

HIF1α Genetic Variants and Protein Expressions Determine the Response to Platinum Based Chemotherapy and Clinical Outcome in Patients with Advanced NSCLC

“…The denaturation was at 95°C for 5 min, followed by 35 cycles of denaturation at 95°C for 30 sec, annealing at 61°C for 30 sec, extension at 70°C for 1 min, and a final extension at 72°C for 10 min. PCR products were purified and sequenced using Big Dye Terminator kit (version 3.1) on an ABI Prism® 3100 Automated DNA sequencer according to the manufacturer's protocol (Applied Biosystems, Foster City, CA) [34]. …”