Allelic variants of human calcitonin receptor: distribution and association with bone mass in postmenopausal Italian women

Bone mass could be under control of several polymorphic genes which can modulate bone turnover via reciprocal interactions. One of the genes that can be involved in this process is the calcitonin receptor (CTR) gene. Evidence from cDNA cloning has shown that CTRs have seven potential transmembrane domains and they are known to be expressed in several tissues. In a Japanese population was discovered a novel Restriction Fragment Length Polymorphism (RFLP) at the CTR gene by Alu I restriction enzyme at the 1377th nucleotide expressing either proline (CC genotype) or leucine (TT genotype) as the 463rd amino acid. The heterozygote genotypes were indicated as TC. In the present study we analyzed the presence of this CTR gene RFLP in 307 postmenopausal Italian women. We observed that TC and TT genotypes represented the most frequent CTR genotypes in Italian women. In addition, Duncan's test used to compare the genotypes showed that TT genotype has significant lower lumbar BMD in comparison with CC genotype.