The study of rs1800012 polymorphism of the alpha1- chain collagen type 1 gene in moscow women and children with different level of bone strength
AbstractThe frequency of rs1800012 polymorphism of alpha1-chains of type 1 collagen gene (COL1A1) was studied by real-time PCR in 422 Moscow women and children, including pregnant women (n=96), lactating (n=29) and non-pregnant women (n=28) and preschool children (2–6 years, n=76) and school children (7–16 years, n=193) with different levels of bone strength (BS) as determined by ultrasound densitometry. It was found that the decrease in the value of the BS (Z-score<-1) was observed in 60% of women, 54% of preschool children and 48% of school-aged children. In the surveyed cohort the predominant genotype of rs1800012 polymorphism COL1A1 gene was GG (55.1%), the frequency of the genotype TT – 7.6%, of T-allele – 26.2%. There were no statistically significant relationships of BS with a particular genotype of rs1800012 polymorphism of COL1A1 gene in all examined women. A positive but not statistically significant association of T allele with a risk BS reduction was found in non-pregnant and pregnant women (OR=2.143, p=0.31 and OR=1.227, p=0.55, respectively). For preschool and school-aged children T allele was not associated with the risk of BS reduction. In school-age children a statistically significant inverse association of T allele with the risk of BS reduction was shown (OR=0.621 with p=0.037), available also as a tendency in preschool children.
Keywords:osteoporosis, women, alpha1-chain collagen type 1 (COL1A1) gene, genetic polymorphism, preschoolers, school-aged children, pregnant and lactating women