Turkish Journal of Physical Medicine and Rehabilitation

Are COL4A1 and COL4A2 gene polymorphisms associated with cerebral palsy?

Orhan Güvener 1 ,Melek Sezgin 2 ,Özlem Tezol 3 ,İbrahim Ömer Barlas 4 ,Asena Ayça Özdemir 5 ,Emine Arzu Kanık 5
1 Department of Physical Medicine and Rehabilitation, Mersin City Training and Research Hospital, Mersin, Turkey
2 Department of Physical Medicine and Rehabilitation, Mersin University Faculty of Medicine, Mersin, Turkey
3 Department of Pediatric, Mersin University Faculty of Medicine, Mersin, Turkey
4 Department of Medical Biology and Genetics, Mersin University Faculty of Medicine, Mersin, Turkey
5 Department of Biostatistics and Medical Informatics, Mersin University Faculty of Medicine, Mersin, Turkey
DOI : 10.5606/tftrd.2021.5481 Objectives: This study aims to investigate the association of COL4A1 and COL4A2 gene polymorphisms with susceptibility to risk of developing cerebral palsy (CP) and severity of CP.

Patients and methods: Between December 2016 and June 2017, a total of 176 patients with CP (101 males, 75 females; mean age 71.8±37.9 months; range, 24 to 184 months) and age-, sex-, and ethnically-matched 178 (90 males, 88 females; mean age 69.3±55.2 months; range, 24 to 214 months) controls were included. Two polymorphisms of COL4A1 (rs1961495) and COL4A2 (rs9521733) genes were typed from genomic deoxyribonucleic acid. Genotype distributions and allelic frequencies were compared between the patient and control groups. Gross Motor Function Classification System, the use of medical drugs, type of involvement, number of affected limbs, accompanying conditions, birth weight, gestational age, and magnetic resonance imaging (MRI) findings were used to evaluate the disease severity and their relationships with the COL4A1 and COL4A2 gene polymorphisms.

Results: There was no statistically significant difference between the groups in terms of genotype distribution and allele frequency of COL4A1 and COL4A2 gene polymorphisms (p>0.05). In addition, there was no relationship between severity of CP and two gene polymorphisms (p>0.05). A significant association was detected between the COL4A2 polymorphism and growth retardation in CP. The TT genotype (57.1%) and T allele (76.2%) were higher, compared to CC (4.8%) and CT genotypes (38.1%) and C allele (23.8%) in patients with CP with growth retardation (p=0.03 for genotype and p=0.01 for allele frequency).

Conclusion: These findings suggest that COL4A1 and COL4A2 gene polymorphisms are not associated with susceptibility to CP in a group of Turkish populations, although COL4A2 gene polymorphism may be associated with growth retardation in patients with CP. Keywords : Cerebral palsy, COL4A1, COL4A2, gene polymorphism