AI Article Synopsis
- The study aimed to examine the relationship between certain genetic variations (polymorphisms) in the COL1A1 and COL1A2 genes and bone mineral density among Chinese individuals.
- Researchers surveyed 628 Han nationality residents aged 20-79, using genetic testing to identify genotypes and measuring bone mineral density in various regions of the body.
- Results showed that COL1A1 polymorphisms were absent, while COL1A2 showed specific genotype distributions, but there was no significant difference in bone mineral density across these genetic groups.
Article Abstract
Objective: To investigate collagen type I alpha 1 (COL1A1) and alpha 2 (COL1A2) gene polymorphisms in Chinese and their relationship with bone mineral density.
Methods: Totalling 628 residents of Han nationality in Guangzhou aged 53.4-15.9 (range 20-79) years were surveyed for COL1A1 and COL1A2 gene genotypes by polymerase chain reaction-restriction fragment length polymorphism. Bone mineral density of the lumbar vertebrae, greater trochanter, femur neck and Ward's triangle was measured by dual-energy X-ray absorptiometry.
Results: COL1A1 Sp1 polymorphism was not found in these subjects, and the genotype of all samples were type SS. COL1A2 genotyping revealed the distribution of EE genotype in 49.7%, Ee in 40.9% and ee in 9.4% of the subjects. The frequency distribution of EcoR1 alleles followed the Hardy-Weinberg equilibrium. The mean bone mineral density did no significantly differ among these genotype groups (P>0.05 by analysis of variance).
Conclusion: COL1A1 Sp1 binding site polymorphism is absent and COL1A2 EcoR1 site polymorphism is not associated with bone mineral density in Chinese of Han nationality.
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