DOI: 10.18413/2658-6533-2026-12-2-0-2

Investigation of SNP-SNP interactions of maternal organism in matrix metalloproteinases genes and folate cycle genes and their influence on birth weight

Background: The birth weight is one of the main parameters of the normal course of pregnancy. High/low birth weight is associated with the development of chronic diseases in adult life. The aim of the study: To study the SNP-SNP interactions of maternal organism in matrix metalloproteinases genes and folate cycle genes and the influence on birth weight. Materials and methods: Here we genotyped ten polymorphisms: five of matrix metalloproteinases genes (rs1799750 [1G>2G] MMP1, rs243865 [C>T] MMP2, rs3025058 [6A>5A] MMP3, rs11568818 [T>C] MMP7, rs17577 [G>A] MMP9) and five of folate cycle genes (rs1805087 [A>G] MTR, rs1801394 [G>A] MTRR, rs1979277 [C>T] SHMT1, rs699517 [C>T] TYMS, rs2790 [A>G] TYMS) in 691 pregnant women. SNP-SNP interactions were investigated using a modification of the multifactor dimensionality reduction analysis (MDR) – MB-MDR (Model Based Multifactor Dimensionality Reduction). The functional effects of weight-associated SNPs were assessed in silico. Results: According to the results of the study, 9 best models of intergenic interactions related to newborn weight were identified, which included all 10 studied SNPs (p_perm ≤0.001). The maximum number of models was set for rs11568818 MMP7 (5 models) and rs1979277 SHMT1 (6 models). The 4-locus model rs1979277 SHMT1×rs11568818 MMP7×rs3025058 MMP3×rs1799750 MMP1 demonstrates the most significant association with birth weight. Conclusion: Thus, the SNP-SNP interactions of maternal organism in matrix metalloproteinases genes and folate cycle genes are associated with birth weight

Keywords: birth weight, polymorphism, matrix metalloproteinase genes, folate cycle genes, associations, intergenic interactions.

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Reshetnikova YuN. Investigation of SNP-SNP interactions of maternal organism in matrix metalloproteinases genes and folate cycle genes and their influence on birth weight. Research
Results in Biomedicine. 2026;12(2):183-201. Russian. DOI: 10.18413/2658-6533-2026-12-2-0-2

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