The Impact of Selected COL1A1 and COL1A2 Gene Polymorphisms on Bone Mineral Density and the Risk of Metabolic Diseases in Postmenopausal Women

Genetic variations in the <i>COL1A1</i> and <i>COL1A2</i> genes have been linked to bone mineral density (BMD) and metabolic disorders. This study analyzed the associations of <i>COL1A1</i> (rs1107946, rs1800012) and <i>COL1A2</i> (rs42524) polymorphisms with BMD, obesity, and type 2 diabetes (T2D) in 554 postmenopausal women. Dual-energy X-ray absorptiometry assessed BMD, and genotyping was performed alongside an evaluation of metabolic and lifestyle factors. The <i>COL1A1</i> rs1107946 AA genotype was associated with higher femoral neck BMD (<i>p</i> < 0.05), an over 10-fold increased obesity prevalence (<i>p</i> = 0.038), and a 3.5-fold higher T2D risk (<i>p</i> = 0.011)-a novel finding. The rs1800012 polymorphism showed age-dependent BMD effects: A allele carriers had lower femoral neck BMD in the 60-69 age group but higher total hip BMD in the 70-79 age group. Additionally, <i>COL1A2</i> rs42524 GG homozygotes had a significantly higher incidence of maternal fractures (<i>p</i> < 0.05). These results highlight <i>COL1A1</i> rs1107946 as a potential marker for both skeletal and metabolic risk, demonstrate the age-specific effects of rs1800012 on BMD, and identify rs42524 as a possible genetic indicator of familial fracture risk. These insights may inform personalized approaches to osteoporosis and metabolic disease prevention.