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Association of bone mineral density with polymorphism of the estrogen receptor gene
Author(s) -
Kobayashi Shinji,
Inoue Satoshi,
Hosoi Takayuki,
Ouchi Yasuyoshi,
Shiraki Masataka,
Orimo Hajime
Publication year - 1996
Publication title -
journal of bone and mineral research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.882
H-Index - 241
eISSN - 1523-4681
pISSN - 0884-0431
DOI - 10.1002/jbmr.5650110304
Subject(s) - haplotype , genotype , medicine , bone mineral , restriction fragment length polymorphism , osteoporosis , allele , biology , endocrinology , estrogen receptor alpha , genetics , polymorphism (computer science) , estrogen receptor , gene , breast cancer , cancer
Pvu II and Xba I restriction fragment length polymorphisms (RFLPs) of the estrogen receptor (ER) gene and its relation to bone mineral density (BMD) were examined in 238 postmenopausal healthy women aged 45–91 years (66.3 ± 0.6 years, mean ± standard error of the mean [SEM]) in Japan. The RFLPs were represented as Pp ( Pvu II) and Xx ( Xba I), with capital letters signifying the absence of and small letters the presence of restriction sites. In the PPxx genotype ( n = 18), Z score values of BMD were significantly lower than those for other genotypes ( n = 220) (lumbar spine, −0.746 vs. −0.065 [ p = 0.022]; total body, −0.482 vs. 0.308 [ p = 0.002]). We classified the subjects into three genotypes with allelic haplotype: homozygote of the Px haplotype was expressed as the 11 genotype, heterozygote of the Px haplotype as the 10 genotype, and the one lacking the Px haplotype as the 00 genotype. The PpXx genotype was not included in this analysis because the allelic haplotypes are uncertain. The Px haplotype was associated with a low BMD in postmenopausal women (Z score for the lumbar spine, −0.746 vs. −0.279 vs. 0.083, for the 11, 10, 00 genotypes, respectively [ p = 0.029]; Z score for the total body, −0.482 vs. 0.164 vs. 0.427, respectively [ p = 0.003]). We suggest that some variation of the ER gene linked to these RFLPs is associated with low BMD and that this at least partly explains the cause of postmenopausal osteoporosis in Japanese women.