J Xu1, Y Gao, J Yin, X Zhao, H Wang, H Yuan, F Wang. 1. Hong Yuan, Department of the First Orthopedics, Xinjiang Uygur Autonomous Region People's Hospital, Urumqi, Xinjiang 830001, China, Tel.: 0086-0991- 8563585; E-mail: xjb58sh@163.com.
Abstract
CONTEXT: Osteoporosis is a systemic disease with a strong genetic component. Calcitonin receptors (CTR) are involved in maintaining calcium homeostasis. There is no consensus whether CTR gene polymorphism plays a role in affecting pathogenesis of osteoporosis. OBJECTIVE: The objective of this study was to investigate genetic susceptibility of calcitonin receptor gene polymorphism (genotypes and allele frequencies) to primary osteoporosis between Han and Uygur patients and healthy controls in the Chinese Xinjiang region. DESIGN: This was a cross-sectional study conducted in an academic hospital. SUBJECTS: Between 2010 and 2012 a total of 404 female patients with primary osteoporosis (200 Han and 204 Uygur) and 316 healthy control subjects (160 Han and 156 Uygur) were recruited to determine the distribution of C/T single nucleotide polymorphism of the CTR gene. PCR-restriction fragment length polymorphism was used at the 1377-bp site. RESULTS: The frequency of polymorphic C/T alleles of the calcitonin receptor gene in each group fit the Hardy-Weinberg equilibrium model. There was no statistically significant difference in genotypes (P = 0.922) or allele frequency (P = 0.654) between the Xinjiang Han postmenopausal osteoporosis patients and the controls. Similarly, there was no difference in genotypes (P = 0.897) or allele frequency (P = 0.825) between Xinjiang Uygur postmenopausal osteoporosis patients and the controls. Moreover, there was no significant difference (P = 0.86) between the combination of both ethnic groups and controls. In contrast, compared to these two ethnic groups, Han CC type accounted for 67.8%, CT 30.0%, and TT 2.2%, whereas Uighur CC type accounted for 55.6%, CT 33.3%, and TT 11.2%, which is statistically significant between Han and Uygur CTR genotypes (P = 0.006). Allele frequency of C accounted for 82.8% and T for 17.2% in Han, whereas C accounted for 72.2% and T for 27.8% in Uygur (P = 0.001). CONCLUSION: There was no statistically significant difference in CTR gene nucleotide sequence polymorphisms at 1377-bp between Chinese Xinjiang Han and Uygur patients with primary osteoporosis, suggesting that this CTR gene polymorphism may not affect incidence of osteoporosis. However, there was a significant difference in CTR gene nucleotide sequence polymorphism at the 1377-bp site between Chinese Xinjiang Han and Uygur, but the importance of this difference needs further study.
CONTEXT: Osteoporosis is a systemic disease with a strong genetic component. Calcitonin receptors (CTR) are involved in maintaining calcium homeostasis. There is no consensus whether CTR gene polymorphism plays a role in affecting pathogenesis of osteoporosis. OBJECTIVE: The objective of this study was to investigate genetic susceptibility of calcitonin receptor gene polymorphism (genotypes and allele frequencies) to primary osteoporosis between Han and Uygur patients and healthy controls in the Chinese Xinjiang region. DESIGN: This was a cross-sectional study conducted in an academic hospital. SUBJECTS: Between 2010 and 2012 a total of 404 female patients with primary osteoporosis (200 Han and 204 Uygur) and 316 healthy control subjects (160 Han and 156 Uygur) were recruited to determine the distribution of C/T single nucleotide polymorphism of the CTR gene. PCR-restriction fragment length polymorphism was used at the 1377-bp site. RESULTS: The frequency of polymorphic C/T alleles of the calcitonin receptor gene in each group fit the Hardy-Weinberg equilibrium model. There was no statistically significant difference in genotypes (P = 0.922) or allele frequency (P = 0.654) between the Xinjiang Han postmenopausal osteoporosispatients and the controls. Similarly, there was no difference in genotypes (P = 0.897) or allele frequency (P = 0.825) between Xinjiang Uygur postmenopausal osteoporosispatients and the controls. Moreover, there was no significant difference (P = 0.86) between the combination of both ethnic groups and controls. In contrast, compared to these two ethnic groups, Han CC type accounted for 67.8%, CT 30.0%, and TT 2.2%, whereas Uighur CC type accounted for 55.6%, CT 33.3%, and TT 11.2%, which is statistically significant between Han and Uygur CTR genotypes (P = 0.006). Allele frequency of C accounted for 82.8% and T for 17.2% in Han, whereas C accounted for 72.2% and T for 27.8% in Uygur (P = 0.001). CONCLUSION: There was no statistically significant difference in CTR gene nucleotide sequence polymorphisms at 1377-bp between Chinese Xinjiang Han and Uygur patients with primary osteoporosis, suggesting that this CTR gene polymorphism may not affect incidence of osteoporosis. However, there was a significant difference in CTR gene nucleotide sequence polymorphism at the 1377-bp site between Chinese Xinjiang Han and Uygur, but the importance of this difference needs further study.
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