Titelbild
adobe

OMIM: +120150
Gen: COL1A1
Locus: 17q21.31-q22

COL1A1 POLYMORPHISM
OSTEOPOROSIS-RISK

Background
Osteoporosis is one of the most common diseases in old age. The pathogenesis of osteoporosis is associated with many factors: genetic, environmental, biomechanical, chronic disease states, and the effects of endogenous hormones.

One of the best examined candidate genes is COL1A1, which encodes the alpha-1 chain of type I collagen, the major protein of bone. A polymorphism (Sp1 polymorphism) in the COL1A1 gene is associated with bone mineral density and osteoporotic fracture risk.

COL1A1 genotypes

Genotype Frequency Commentary
COL1A1 2046  GG  (SS) 61% Wildtype ("normal") genotype
COL1A1 2046  GT  (Ss) 36% Heterozygous carrier of the Sp1 variant.
Modestly increased risk for osteoporosis.
Osteoporotic fracture risk 26% higher compared to the wildtype genotype
COL1A1 2046  TT  (ss) 3% Homozygous carrier of the Sp1 variant.
Increased risk for osteoporosis.
Osteoporotic fracture risk 78% higher compared to the wildtype genotype

Indications for testing
Determination of the COL1A1 genotype may help to assess to individual risk for osteoporosis. Preventive therapy in subjects at risk may help to reduce the risk for osteoporotic fractures.




Literatur:
  • Mann V, Ralston SH. Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture. Bone. 2003;32:711-7.