M. Nakamura et al., Calcitonin receptor gene polymorphism in Japanese women: Correlation with body mass and bone mineral density, CALCIF TIS, 68(4), 2001, pp. 211-215
We have identified a polymorphism at position 1377 of the calcitonin recept
or (CTR) gene which generates CC, CT, or TT genotype. In this study, the ge
notypes of the CTR and their relationship with the body height, the body we
ight, the bone mineral density (BMD), and osteocalcin levels were examined
in 152 healthy Japanese women aged 16-43 years. The CTR genotypic frequenci
es in the Japanese population were 77.0% for CC, 20.4% for CT, and 2.6% for
TT. The height, BMD, and osteocalcin levels were not significantly differe
nt among these three genotypes. The body weight adjusted for height in thes
e three groups was significantly different in the order of TT, CT, and CC (
P = 0.0454 by analysis of covariance). In combined analysis of the VDR geno
type (B,b) and the CTR genotype (C,T), the body height was found to be sign
ificantly different between CCB and others (P = 0.0236). In addition, analy
sis of the CTR genotypic frequency using 64 blood samples from Japanese and
47 blood samples from Caucasians indicated that there was a significant di
fference between the two races (P < 0.0001). We found that C allele was pre
dominant in the Japanese population, however, Caucasians have an almost equ
al ratio of the C and T. In conclusion, the CTR allele is one of the geneti
c factors regulating body weight in Japanese women.