Maternal energy metabolism and angiogenesis genes polymorphisms in fetal growth restriction

Новикова, И. А.; Alset, Dema; Шкурат, Т. П.; Pokudina, I. O.; Butenko, Elena; Кузнецова, Н.Б.; Забанова, Е. А.

doi:10.1016/j.genrep.2021.101170

Cited by 3 publications

(1 citation statement)

References 17 publications

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“…MTHFR rs1801133 and rs1801131 besides AGT rs699 and rs4762 could be suggested as inherited together with a high possibility of LD. It should be noted that those variations in MTHFR and NOS3 are very abundant in predictive associative studies of pregnancy and reproductive abnormalities in women (Novikova et al., 2021). Also, the results confirmed their LD in reproductive age female of Rostov region only, but not in males or females of other ages.…”

Section: Discussionmentioning

confidence: 99%

The prevalence and linkage disequilibrium of 21 genetic variations related to thrombophilia, folate cycle, and hypertension in reproductive age women of Rostov region (Russia)

Bordaeva,

Derevyanchuk,

Alset

et al. 2023

Annals of Human Genetics

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Several maternal genetic variations are known to play an important role during pregnancy since they can affect mother health and/or fetal growth. The frequency of these variants is variable among different populations. This study aimed to investigate thrombophilia, folate metabolism and hypertension genetic variants in reproductive age women of Rostov region (Russia) and then assess their linkage disequilibrium (LD) and heterogeneity among populations. A total of 3108 reproductive age women were included (33.75 ± 5.13 years). Twenty‐one genetic variants were detected with RT‐PCR. LD was tested according to (D′) coefficient and p value. The highest frequency of mutant allele in studied population was as follows: PAI‐1 rs1799768, MTRR rs1801394, AGT rs699, and AGTR2 rs1403543. We showed a high possibility of coinheritance of MTHFR rs1801133 with rs1801131 and AGT rs699 with rs4762 (D′=0.992 and 0.999, respectively). In addition, comparative analysis showed F7 rs6046, FGB rs1800790, MTR rs1805087, and AGT rs699 significantly more frequent among Rostov females by 1.3–1.5 times than European. MTHFR rs1801133, ADD1 rs4961, AGTR2 rs1403543, NOS3 rs2070744, and rs1799983 were with higher frequencies in Europeans than those in the studied group. Our data could be used as a reference for further associative studies of targeted genetic variations in different pregnancy complications specifically in this population.

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Section: Discussionmentioning

confidence: 99%

The prevalence and linkage disequilibrium of 21 genetic variations related to thrombophilia, folate cycle, and hypertension in reproductive age women of Rostov region (Russia)

Bordaeva,

Derevyanchuk,

Alset

et al. 2023

Annals of Human Genetics

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The association of PON1 and NOS3 genetic variants with the severity of COVID-19

et al. 2023

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Association of maternal genetic polymorphisms with fetal growth restriction syndrome in Russian pregnant women from Rostov region

Alset,

Butenko,

Pokudina

et al. 2023

Egypt J Med Hum Genet

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Background Fetal growth restriction (FGR) is one of the main syndromes causing fetal morbidity and mortality. It was known to be associated with different factors including maternal, fetal, and environmental. However, the effect of genetic factors in FGR is not totally understood. Recently, researchers have focused on investigating genetic variants as possible markers of FGR. This especially concerns maternal genetic polymorphisms since they could serve as prenatal prognostic biomarkers. Accordingly, we aimed to study the association of several polymorphisms affecting vital processes of pregnancy with FGR in pregnant women. Targeted polymorphisms include methylenetetrahydrofolate reductase (MTHFR) 677C > T; methionine synthase reductase (MTRR) 66A > G; methionine synthase (MTR) 2756A > G; angiotensinogen (AGT) 704 T > C; and vascular endothelial growth factor A (VEGFA) 634C > G. In addition, this study examined SNP–SNP interactions, linkage disequilibrium (LD), and haplotypes association for these polymorphisms in the studied population. Results According to our data, MTRR 66(GG) carriers had increased FGR risk (OR = 3.18, 95% CI 1.31–7.72) while (AG) genotype was associated with lower FGR risk (OR = 0.37, 95% CI 0.17–0.84). AGT 704T > C also showed significant association with FGR with allele (T) as a risk factor. SNP–SNP interactions analysis revealed antagonistic relationship between these two polymorphisms and haplotypes association confirmed this finding. High LD possibility was shown between MTHFR 677C > T and MTR 2756A > G (D′ = 0.999) located on chromosome 1. Conclusion We suggest MTRR 66A > G and AGT 704T > C as associated with FGR susceptibility with antagonistic interaction. Result will help to expand our understanding of FGR as a multifactorial syndrome and improve prenatal prognosis using maternal genetic biomarkers, but further studies in different populations are needed to confirm findings.

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Maternal energy metabolism and angiogenesis genes polymorphisms in fetal growth restriction

Cited by 3 publications

References 17 publications

The prevalence and linkage disequilibrium of 21 genetic variations related to thrombophilia, folate cycle, and hypertension in reproductive age women of Rostov region (Russia)

The prevalence and linkage disequilibrium of 21 genetic variations related to thrombophilia, folate cycle, and hypertension in reproductive age women of Rostov region (Russia)

The association of PON1 and NOS3 genetic variants with the severity of COVID-19

Association of maternal genetic polymorphisms with fetal growth restriction syndrome in Russian pregnant women from Rostov region

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