Orthopedic Department, The First Affiliated Hospital of Chengdu Medical College, Chengdu, Sichuan, China.
Eur Rev Med Pharmacol Sci. 2018 Dec;22(23):8084-8090. doi: 10.26355/eurrev_201812_16498.
To uncover the role of estrogen receptor gene polymorphism in the onset of osteoporosis in Han Chinese women.
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.
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 ).
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.
揭示雌激素受体基因多态性在汉族女性骨质疏松症发病中的作用。
选取 2016 年 4 月至 2017 年 4 月本院收治的骨质疏松症女性患者 122 例作为病例组，同期体检健康者 106 例作为对照组。采集两组受试者的遗传样本，采用限制性片段长度多态性（RFLP）法检测雌激素受体α（ERα）基因 PvuⅡ和 XbaⅠ多态性、雌激素受体β（ERβ）基因 Rsa-I 和 Aiu-I 多态性，比较两组 ERα 基因 Pvu-1I 和 Xba-I 多态性携带基因型及 ERβ 基因 Rsa-I 和 Alu-I 多态性携带基因型的相关等位基因频率。
病例组与对照组 ERα Pvu-II 多态性基因型频率 pp、Pp、PP 比较差异有统计学意义（p＜0.05），病例组 P 等位基因频率高于对照组（p＜0.05）；病例组与对照组 ERα Xba-I 多态性基因型频率 xx、Xx、XX 比较差异无统计学意义（p＞0.05），Rsa-I 多态性基因型频率 rr、Rr、RR 比较差异亦无统计学意义（p＞0.05）；病例组与对照组 ERβ Alu-I 和 Rsa-I 多态性基因型频率比较差异均有统计学意义（p＜0.05），病例组与对照组 ERβ Alu-I 多态性基因型频率 aa、Aa、AA 比较差异亦有统计学意义（p＜0.05）。
汉族女性骨质疏松症的易感性可能与 ERα Pvu-II 多态性和 ERβ Alu-I 多态性有关，携带 A、P 等位基因的基因型可能具有更高的骨质疏松症发病风险。
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