Prevalence and clinical significance of the mtr gene a2756g polymorphism in congenital pathology in newborns

Kamalova, Gulnaz, Khodjamoва, Nargiza, Karimov, Khamid, Камалова, Г, Ходжамова, Н, Каримов, Х, Kamalova, Gulnaz, Xodjamova, Nargiza, Karimov, Xamid

Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi · 2026-yil

Annotatsiya

Aim. To investigate the distribution frequency and evaluate the association of MTR gene polymorphic variants (Asp919Gly, rs1805087) in newborns with congenital malformations (CMs). Materials and Methods. The study included 113 newborns with CMs (main group), subdivided into three clinical subgroups: folate-dependent CMs (n=75), folate-independent CMs (n=21), and CMs associated with chromosomal abnormalities (n=17), as well as 110 healthy newborns (control group). Genotyping was performed using real-time polymerase chain reaction (RT-PCR). Results. The frequency of the minor Gly allele in the main group (35.84%) was significantly higher than that in the control group (21.36%). The most pronounced differences were observed in the subgroup with folate-dependent CMs, where the Gly allele frequency reached 40.67%, and the homozygous Gly/Gly genotype was detected in 21.33% of cases compared with 7.27% in the control group (χ²=7.8; p=0.01; OR=3.46; 95% CI: 1.45–8.26). Hardy–Weinberg equilibrium analysis demonstrated a significant deviation in the main group (χ²=5.03; p=0.028), with a deficiency of heterozygotes (D=−0.21). No significant associations between the MTR A2756G polymorphism and folate-independent CMs or CMs associated with chromosomal abnormalities were identified. The Gly/Gly genotype demonstrated high specificity (SP=0.93) and an area under the ROC curve (AUC=0.57) as a marker of folate-dependent CMs. Conclusion. The findings suggest that the MTR Asp919Gly polymorphism may serve as a potential molecular genetic marker of susceptibility to folate-dependent congenital malformations in newborns.

Maqola ma’lumotlari
MualliflarKamalova, Gulnaz, Khodjamoва, Nargiza, Karimov, Khamid, Камалова, Г, Ходжамова, Н, Каримов, Х, Kamalova, Gulnaz, Xodjamova, Nargiza, Karimov, Xamid
JurnalMedical science of Uzbekistan / O'zbekiston tibbiyot ilmi
NashriyotАндижон давлат тиббиёт институти
ISSN2181-3612
Nashr sanasi2026-04-30
Jild5
Son2
Betlar33-49
TilIngliz
Ilmiy sohaTibbiyot
DOI10.56121/msu-2026-2-00009
Indeksga qo‘shilgan2026-08-26

DOI: 10.56121/msu-2026-2-00009 · Maqolaning asl sahifasi

Kalit so‘zlar

Ген MTR, врождённые пороки развития, новорождённые, фолатный метаболизм, молекулярно-генетические маркёры риска, MTR gene, congenital malformations, newborns, folate metabolism, molecular genetic risk markers, MTR geni, tug‘ma rivojlanish nuqsonlari, yangi tug‘ilgan chaqaloqlar, folat metabolizmi, molekulyar-genetik xavf markerlari

Ilmiy soha

Tibbiyot

Iqtibos keltirish

APAKamalova, Gulnaz, Khodjamoва, Nargiza, Karimov, Khamid, Камалова, Г, Ходжамова, Н, Каримов, Х, Kamalova, Gulnaz, Xodjamova, Nargiza, & Karimov, Xamid (2026). Prevalence and clinical significance of the mtr gene a2756g polymorphism in congenital pathology in newborns. Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 5(2), 33-49. https://doi.org/10.56121/msu-2026-2-00009
GOST (OAK)Kamalova, Gulnaz va b. Prevalence and clinical significance of the mtr gene a2756g polymorphism in congenital pathology in newborns // Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi. – 2026. – T. 5, № 2. – P. 33-49. – DOI: 10.56121/msu-2026-2-00009.
MLAKamalova, Gulnaz, Khodjamoва, Nargiza, Karimov, Khamid, Камалова, Г, Ходжамова, Н, Каримов, Х, Kamalova, Gulnaz, Xodjamova, Nargiza, and Karimov, Xamid. “Prevalence and clinical significance of the mtr gene a2756g polymorphism in congenital pathology in newborns.” Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 5(2), 33-49, 2026. https://doi.org/10.56121/msu-2026-2-00009
ChicagoKamalova, Gulnaz, Khodjamoва, Nargiza, Karimov, Khamid, Камалова, Г, Ходжамова, Н, Каримов, Х, Kamalova, Gulnaz, Xodjamova, Nargiza, and Karimov, Xamid. “Prevalence and clinical significance of the mtr gene a2756g polymorphism in congenital pathology in newborns.” Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 5(2), 33-49 (2026). https://doi.org/10.56121/msu-2026-2-00009
HarvardKamalova, Gulnaz, Khodjamoва, Nargiza, Karimov, Khamid, Камалова, Г, Ходжамова, Н, Каримов, Х, Kamalova, Gulnaz, Xodjamova, Nargiza, and Karimov, Xamid (2026) ‘Prevalence and clinical significance of the mtr gene a2756g polymorphism in congenital pathology in newborns’, Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 5(2), 33-49. https://doi.org/10.56121/msu-2026-2-00009
BibTeX
@article{kamalovagulnaz2026,
  title = {Prevalence and clinical significance of the mtr gene a2756g polymorphism in congenital pathology in newborns},
  author = {Kamalova, Gulnaz and Khodjamoва, Nargiza and Karimov, Khamid and Камалова, Г and Ходжамова, Н and Каримов, Х and Kamalova, Gulnaz and Xodjamova, Nargiza and Karimov, Xamid},
  journal = {Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi},
  year = {2026},
  volume = {5},
  number = {2},
  pages = {33-49},
  doi = {10.56121/msu-2026-2-00009},
  url = {https://doi.org/10.56121/msu-2026-2-00009}
}

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