An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population

• Published in: BMC medical genomics 2022-10, Vol.15 (1), p.1-208, Article 208
• Main Authors: Qiao, Yimeng, Wang, Yangong, Xu, Yiran, Zhang, Jin, Su, Yu, Cheng, Ye, Bi, Dan, Song, Juan, Xia, Lei, Li, Ming, Zhang, Xiaoli, Zhu, Dengna, Wang, Ting, Ding, Jian, Wang, Xiaoyang, Zhu, Changlian, Xing, Qinghe
• Format: Article
• Language: English
• Subjects: Alleles; Association study; Cerebral palsy; Children; Chinese population; Cognition & reasoning; Congenital diseases; Cytokines; Demographic aspects; Development and progression; Gene frequency; Gene polymorphism; Genetic aspects; Genetic diversity; Genotype & phenotype; Haplotypes; Health aspects; Hypertension; IL2RA; Interleukin 2; Interleukin 2 receptors; Medicin och hälsovetenskap; Nervous system; Paralysis; Population; Power; Pregnancy; Premature labor; Risk factors; Signal transduction; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Statistical analysis
• ISSN: 1755-8794; 1755-8794
• DOI: 10.1186/s12920-022-01350-5

Cerebral palsy (CP), the most common physical disability of childhood, is a nonprogressive movement disorder syndrome. Eighty percent of cases are considered idiopathic without a clear cause. Evidence has shown that cytokine abnormalities are widely thought to contribute to CP. An association between 6 SNPs (rs12244380, rs2025345, rs12722561, rs4749926, rs2104286 and rs706778) in IL2RA (interleukin 2 receptor subunit alpha) and CP was investigated using a case-control method based on 782 CP cases and 778 controls. The allele, genotype and haplotype frequencies of SNPs were assessed using the SHEsis program. Subgroup analyses based on complications and clinical subtypes were also conducted. Globally, no differences in genotype or allele frequencies for any SNPs remained significant after Bonferroni correction between patients and controls, except rs706778, which deviated from Hardy-Weinberg equilibrium and was excluded from further analyses. However, subgroup analysis revealed a significant association of rs2025345 with spastic tetraplegia (P genotype = 0.048 after correction) and rs12722561 with CP accompanied by global developmental delay (P allele = 0.045 after correction), even after Bonferroni correction. These findings indicated that genetic variations in IL2RA are significantly associated with CP susceptibility in the Chinese Han population, suggesting that IL2RA is likely involved in the pathogenesis of CP. Further investigation with a larger sample size in a multiethnic population is needed to confirm the association.