Investigation of the polymorphisms rs1800012 in collagen type I alpha 1 (COL1A1) in cyclists

Tacal Aslan B. , Eken B. F. , Sercan C., Kaman T., Ulucan K.

13th balkan congress of human genetics, Edirne, Türkiye, 17 - 20 Nisan 2019, ss.25

  • Basıldığı Şehir: Edirne
  • Basıldığı Ülke: Türkiye
  • Sayfa Sayıları: ss.25


It has been reported that the single nucleotide polymorphism (SNP) rs1800012 in COL1A1 gene, which encode the alpha-1 chain of type I collagen, have an effect on performance of athletes. But the data from different studies are not consistent. Here we attempted to identify the association between the rs1800012 SNP and cyclists performance. Genomic DNA was isolated from oral epithelium of 38 cyclists. Genotypes of COL1A1 rs1800012 SNP were conducted. Estimation of allele frequencies were performed. Our results indicated the differences of distribution of COL1A1 rs1800012 SNP between on cyclists. The numbers and percentages of CC, AC and AA genotypes for rs1800012 polymorphism that we obtained were 24 (63%), 13 (34%) and 1 (3%), respectively. The distributions of C and A alleles were as 61 (80%) and 15 (20%). There was a significant difference in the genotype and also allele distribution between cyclists. Carriers of a C allele as compared to carriers of the allele A are more prone to cyclism.