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编码法尼基二磷酸合酶(FDPS)的基因多态性(rs2297480)差异对泰国绝经后女性骨密度及骨转换生化标志物的影响。

Effects of differences in polymorphism of gene encoding enzyme faenesyl diphosphate synthase (FDPS), rs2297480, on bone mineral density and biochemical markers of bone turnover in Thai postmenopausal women.

作者信息

Songpatanasilp Thawee, Chanprasertyothin Suwannee

机构信息

Orthopaedic Oncology and Bone Metabolism Unit, Department of Orthopaedics, Phramongkutklao Hospital and College of Medicine, Bangkok, Thailand.

出版信息

J Med Assoc Thai. 2011 Oct;94 Suppl 5:S38-46.

PMID:22338925
Abstract

OBJECTIVE

The purpose of this study was to find the frequency distribution ofa SNP rs2297480 of the human FDPS gene and its influences on BMD and bone turnover markers in postmenopausal Thai women who never-use any anti-osteoporotic drugs.

MATERIAL AND METHOD

One hundred and thirty-five postmenopausal women at the age of 40 or over, and having been menopause for at least 2 years were enrolled in the present study. The patients having chronic medical conditions and having a fracture in any bone within 3 months were excluded. All of the subjects never used any anti-osteoporotic drugs, steroid hormones and warfarin. Bone mineral density and bone turnover markers including N-MID osteocalcin and beta-CTx were performed. Blood samplings for FDPS genotyping were collected and examined for rs2297480 SNP RESULTS: The mean age of the patients was 60.4 (43-79) years old. The mean BMD T-score at all three major sites (Femoral neck, Lumbar spine, and Total hip) fell in the criteria of osteopenia. Twenty-four per cent of patients were diagnosed as osteoporosis (BMD T-score at one of three major sites was equal to or below -2.5 SD). One hundred and thirty-five patients whose data of rs2297480 SNP were defined as follows: AC genotype (45.1%), CC genotype (41.6%) and AA genotype (13.3%). Comparing among these three genotypes of rs2297480 SNP the results showed no differences of BMD and BMTs among them. The absolute BMD after being adjusted to the same level of age and body weight and also beta-CTx and N-MID OC between the group of AA + AC and the CC genotypes were also compared. No factors were statistically significant.

CONCLUSION

This is the first research investigating the gene FDPS rs2297480 SNP in postmenopausal Thai women. The frequency distribution of this SNP is the same as the distribution of the Asians but different from the Caucasians'. There are some small trends in the lower baseline of BMD at femoral neck and total hip in CC genotype group of these postmenopausal women although the results are not statistically significant. The effect of rs229748 SNP did not contribute to the baseline of BMD as well as the baseline of bone turnover markers before the treatment.

摘要

目的

本研究旨在探寻人类法尼基焦磷酸合酶(FDPS)基因单核苷酸多态性(SNP)rs2297480的频率分布,及其对从未使用过任何抗骨质疏松药物的绝经后泰国女性骨密度(BMD)和骨转换标志物的影响。

材料与方法

本研究纳入了135名年龄在40岁及以上、绝经至少2年的绝经后女性。排除患有慢性疾病以及在3个月内任何骨骼发生过骨折的患者。所有受试者从未使用过任何抗骨质疏松药物、类固醇激素和华法林。检测骨密度以及包括N-中段骨钙素和β-交联C端肽(beta-CTx)在内的骨转换标志物。采集血样进行FDPS基因分型,检测rs2297480 SNP。结果:患者的平均年龄为60.4(43 - 79)岁。所有三个主要部位(股骨颈、腰椎和全髋)的平均骨密度T值均处于骨质减少标准范围内。24%的患者被诊断为骨质疏松(三个主要部位之一的骨密度T值等于或低于 -2.5标准差)。135名患者的rs2297480 SNP数据定义如下:AC基因型(45.1%)、CC基因型(41.6%)和AA基因型(13.3%)。比较rs2297480 SNP的这三种基因型,结果显示它们之间的骨密度和骨转换标志物无差异。还比较了调整到相同年龄和体重水平后的绝对骨密度,以及AA + AC组与CC基因型组之间的β-CTx和N-中段骨钙素(N-MID OC)。无因素具有统计学意义。

结论

这是首次对绝经后泰国女性的FDPS基因rs2297480 SNP进行研究。该SNP的频率分布与亚洲人相同,但与高加索人不同。这些绝经后女性的CC基因型组在股骨颈和全髋的骨密度基线较低方面存在一些小趋势,尽管结果无统计学意义。rs229748 SNP的作用对治疗前的骨密度基线以及骨转换标志物基线均无影响。

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