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Association Between Osteopontin Gene Polymorphisms and Cerebral Palsy in a Chinese Population
Qing Shang1, Chongchen Zhou1, Dongzhi Liu1
1Zhengzhou Children's hospital, Zhengzhou, 450053, People's Republic of China.
Insights
This study found a genetic link between osteopontin (OPN) gene variants and cerebral palsy (CP) in the Chinese Han population. Specifically, the OPN gene single nucleotide polymorphism rs1126616 is associated with an increased risk of developing CP.
Area of Science:
- Genetics
- Neurology
- Immunology
Background:
- Cerebral palsy (CP) is a neurological disorder impacting movement and posture due to non-progressive brain injury.
- Neonatal encephalopathy and inflammation often accompany CP-related brain injury.
- Osteopontin (OPN), a soluble cytokine, is involved in inflammation and neuroprotection, suggesting a potential role in CP pathogenesis.
Purpose of the Study:
- To investigate the association between single nucleotide polymorphisms (SNPs) in the osteopontin (OPN) gene and cerebral palsy (CP).
- To explore the genetic contribution of OPN gene variants to CP susceptibility in the Chinese Han population.
Main Methods:
- Genotyping of five OPN gene SNPs (rs2853744, rs2853749, rs11728697, rs4754, rs1126616) in 715 CP patients and 658 healthy controls.
- Utilized the MassArray platform for genotyping.
- Statistical analysis performed using the SHEsis program with Bonferroni correction.
Main Results:
- A statistically significant association was found between the OPN gene SNP rs1126616 and global CP (corrected allelic P = 0.0006, genotypic P = 0.0011).
- No significant associations were observed for the other four tested SNPs (rs2853744, rs2853749, rs11728697, rs4754) with CP or its subgroups.
- The study included a substantial sample size, enhancing the reliability of the findings.
Conclusions:
- The osteopontin (OPN) gene single nucleotide polymorphism rs1126616 is statistically associated with cerebral palsy (CP).
- The OPN gene may represent a susceptibility factor for the development of CP.
- Further research is warranted to elucidate the precise mechanisms linking OPN to CP.
Abstract:
Cerebral palsy (CP) is a neurological disorder affecting movement and posture that develops as a complication of prenatal, perinatal, and postnatal brain injury. Such non-progressive brain injury is often accompanied by neonatal encephalopathy and inflammation. The widely expressed soluble cytokine osteopontin (OPN) plays an important role in inflammation and neurological protection. Therefore, it is of great interest to study the relationship between CP and genetic variants of OPN. To explore the genetic association between OPN gene single nucleotide polymorphisms (SNPs) and CP in the Chinese Han population, five SNPs (rs2853744, rs2853749, rs11728697, rs4754, and rs1126616) were genotyped among 715 CP patients and 658 healthy controls using the MassArray platform. Statistical analysis was performed using the online SHEsis program, and Bonferroni correction was applied as necessary. We found an association between rs1126616 and global CP (corrected allelic P = 0.0006 and genotypic P = 0.0011 after Bonferroni correction). The other SNPs were not statistically associated with CP or any of its subgroups. By testing a relatively large sample size, our study demonstrates that the OPN gene SNP rs1126616 is statistically associated with CP. We suspect that the OPN gene might be a susceptibility factor for CP.
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