Objective: To uncover the role of estrogen receptor gene polymorphism in the onset of osteoporosis in Han Chinese women.
Patients and methods: A total of 122 osteoporosis woman patients who were admitted to this hospital between April 2016 and April 2017 were enrolled in this study as the case group, and during the same period, 106 healthy counterparts who took physical examination as the control group. With the genetic samples collected from subjects in two groups, we detected the polymorphisms of Pvu II and Xba I in the estrogen receptor alpha (ERα) gene and the Rsa-I and Aiu-I polymorphisms in the ERβ gene by Restriction Fragment Length Polymorphism (RFLP), and the related-alleles frequency in subjects carrying the genotype of Pvu-1I and Xba-I polymorphisms in the ERα gene or the genotype of Rsa-I and Alu-I polymorphisms in the ERβ gene in the two groups.
Results: Comparison of genotype frequencies pp, Pp, and PP of ERα Pvu-II polymorphisms between the case group and the control group showed the differences were statistically significant (p < 0.05), in which the P allele in the case group had a higher frequency than that in the control group (p < 0.05). However, comparisons of the genotype frequencies of xx, Xx, and XX of ERα Xba-I polymorphisms between the case group and the control group showed no statistically significant differences (p > 0.05), and similar results were also found in comparison of the genotype frequencies of rr, Rr, and RR of Rsa-I polymorphisms (p > 0.05). By the comparison of genotype frequencies of ERβ Alu-I and Rsa-I polymorphisms in the case group with those in the control group, and by the comparison of genotype frequencies aa, Aa, and AA of ERβ Alu-I polymorphisms in the case group with those in the control group, all the differences were statistically significant (p < 0.05 ).
Conclusions: In Han Chinese women, susceptibility to osteoporosis may be affected by ERα Pvu-II polymorphisms and ERβ Alu-I polymorphisms; those carrying genotypes containing A and P alleles may have a higher risk in osteoporosis.