Assessment of the COL9A1 Single Nucleotide Polymorphism with Severity of clubfoot in a paediatric population along with their biological mothers.

BACKGROUND

A frequent birth abnormality known as congenital talipes equinovarus (CTEV) results in severe abnormalities of one or both feet. The risk of CTEV has been shown to be significantly influenced by genetics. It is a typical congenital malformation. Diseases involving the articular cartilage and COL9A1 polymorphisms are linked.

MATERIALS AND METHOD: This case parent dyad research was conducted in a premier care medical and educational facility by the Departments of Paediatric Orthopedics and Biochemistry. Children who had been diagnosed with clubfoot as well as their biological mothers took part in the study. 125 kids were able to join in the research when all the screening, inclusion, and exclusion criteria were met. Baseline demographic information was collected, including the child's age and sex, the kind of clubfoot, any family members who have the condition, and whether or not the mothers smoke or drink. Pirani score is used to clinically evaluate every case. Only one peripheral blood sample was taken from each patient, including their Biological Mothers.

RESULTS

out of 125 children enrolled with biological mothers, Col9A1 SNP rs1135056 is substantially related.

CONCLUSION

Additionally, patients with the GG genotype for rs592121 have a higher chance of developing CTEV than those with other genotypes. In this investigation, we found possible associations between COL9A1 gene polymorphisms in the mother and offspring with the risk of CTEV. Our research may help us comprehend the genetic makeup of CTEV better and lay the groundwork for creative intervention strategies.