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https://doi.org/10.14300/mnnc.2021.16006

Thrombophilia genes in external signs of connective tissue dysplasia and minor development abnormality

[Internal diseases]
Alexandr Yagoda; Lidia Arturovna Аayrapetyan;

The analysis of the frequency of occurrence of genetic polymorphisms of 12 thrombophilia genes was carried out. 100 young people (Slavic ethnicity) with connective tissue dysplasia (CTD) – 28 men, 72 women, aged 23.04±3.34 years. The comparison was carried out in the CTD groups with the presence and absence of the analyzed feature, in some cases – with the control. The following genetic polymorphisms were revealed: a) gene PAI-1:-6755G/5G (type 1 plasminogen activator inhibitor) in the group with dolichostenomelia and in the presence of flat foot; b) the fibrinogen gene FGB:-455G/A with a combination of signs «flat foot + 2nd toe is longer than 1st» and in cases with thin skin; c) the prothrombin gene FII:20210G/A in individuals with chest deformities and a large number of stigmas; d) gene FVII:10976G/A (proconvertin) in the group with increased skin vulnerability – bruising (frequent hematomas); e) gene ITGA2-α2:807C/T (platelet receptor for collagen) with a combination of signs «scoliotic deformity of the thoracic spine + flat foot + striae»; f) gene ITGB-3β:1565T/C (platelet fibrinogen receptor) in persons with joint hypermobility (in comparison with control group); g) genes of folate cycle enzymes: homozygous genotype G/G gene MTR 2756A/G (B12-dependent methionine synthase) in persons with «protruding ears» anomaly, MTRR:66A/G (methionine synthase reductase) and MTR: 2756A/G – in the group of patients with increased dysplastic stigmata.

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Keywords: connective tissue dysplasia, external stigma, minor developmental anomalies, thrombophilia genes, polymorphism