Association of rs2252070 MMP13 polymorphism with unilateral cerebral palsy in Turkish children
Öz
Purpose: Cerebral Palsy (CP) is a group of movement and posture disorders whose etiology is heterogeneous and multifactorial. Evidence suggests that genetic factors may be responsible for the etiology of CP. This study aimed to investigate the potential genetic underpinnings of CP by examining the association between the MMP13 rs2252070 polymorphism and CP.
Materials and Methods: This cross-sectional case-control study included 41 children with CP (19 males, 22 females) and 41 healthy children (16 males, 25 females). Genomic DNA extracted from peripheral blood samples was genotyped using specific primers and probes targeting the relevant polymorphic sequence. Genotype distributions and allele frequencies were compared between the patient and control groups. Furthermore, subgroup analyses were conducted based on the clinical characteristics of patients with CP.
Results: The genotype distributions of the groups were in Hardy-Weinberg equilibrium. No significant differences were observed in the MMP13 rs2252070 genotype and allele distributions between the age- and gender-matched groups (genotype frequencies in the CP group: CC 17.1%, CT 41.5%, TT 41.5%; controls: CC 17.1%, CT 31.7%, TT 51.2%; allele frequencies in the CP group: C 37.8%, T 62.2%; controls: C 32.9%, T 67.1%).
Conclusion: These findings suggest that the MMP13 rs2252070 genetic polymorphism is not significantly associated with CP susceptibility in the Turkish population and does not play a role in the pathogenesis of CP.
Anahtar Kelimeler
Cerebral Palsy, Extracellular Matrix, Genetic, Matrix Metalloproteinase 13, Polymorphism
Destekleyen Kurum
the Scientific Research Projects Unit of Mersin University
Proje Numarası
2022-1-TP3-4559
Etik Beyan
The study was approved by the local ethics committee of Mersin University (2022/237). The study was performed in accordance with the principles of the Declaration of Helsinki. All subjects were informed about the study and written informed consent form was obtained from all participants.
Teşekkür
We would like to thank Mersin University Scientific Research Project Unit for their support.
Kaynakça
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