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Journals / Turkish journal of physical medicine and rehabilitation / 2021 / Cilt: 67 - Sayı: 2

Are COL4A1 and COL4A2 gene polymorphisms associated with cerebral palsy?

Orhan GÜVENER
Melek SEZGİN
Özlem TEZOL
İbrahim Ömer BARLAS
Asena Ayça ÖZDEMİR
Arzu Emine KANIK
Pages
242–249
DOI
—
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⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

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Objective & Hypothesis: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.
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Key Findings & Data: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.
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Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:2016 Verileri
⚙️Variables:Domain Parameters

Özet

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.

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Cite This Article

GÜVENER, O., SEZGİN, M., TEZOL, Ö., BARLAS, İ. Ö., ÖZDEMİR, A. A., KANIK, A. E. (2021). Are COL4A1 and COL4A2 gene polymorphisms associated with cerebral palsy?. Turkish journal of physical medicine and rehabilitation, Cilt: 67 - Sayı: 2, 242–249. https://ajindex.com/articles/403031

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