中国骨质疏松杂志

云南红河地区哈尼族与昆明地区汉族Runx2基因多态性比较研究

A comparative study on Runx2 gene polymorphism between Hani ethnic minority in Honghe and Han nationality in Kunming，Yunnan

DOI：10.3969/j.issn.1006.7108.2015.08.022

中文关键词: Runx2基因骨质疏松骨密度基因多态性等位基因

英文关键词:Runx2 gene Osteoporosis Bone mineral density Polymorphism Allele

基金项目:国家自然科学基金资助项目（81160112,31360270);云南省医疗卫生单位内设研究机构资助项目(骨代谢疾病研究中心 2014);云南省中青年学术带头人后备人才项目（2010CZ014)

作者	单位
王玉明1 张晓阳1 赵宏斌2* 胡敏3 白松2 韩雨杉2 伍雪2 钱传云2	1.昆明医科大学第一附属医院检验科，昆明650032 2.昆明医科大学第一附属医院急诊医学科创伤中心（云南省骨代谢疾病研究中心），昆明650032 3.昆明学院（云南省骨代谢疾病转化医学工程技术研究中心），昆明650214

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中文摘要:

目的比较云南红河地区哈尼族与昆明地区汉族Runx2基因多态性。方法将昆明医科大学第一附属医院120名汉族健康体检者作为汉族人群，云南省红河地区126名哈尼族作为哈尼族人群。应用聚合酶链反应-限制性片断长度多态性 (PCR-IFLP)方法分析Runx2基因第一启动子P1-330G/T位点等位基因多态性，应用RT-PCR TaqMan SNP基因分型技术分析 Runx2基因第二启动子P2-1025T/C位点等位基因多态性，并测序验证基因型。采用超声测量仪测量研究人群右足跟骨的骨密度（BMD)。比较汉族人群和哈尼族人群在基因型分布和等位基因频率之间的差异，分析哈尼族人群BMD与影响因素之间的关系。结果 Runx2基因P1-330G/T位点GG、GT、TT基因型分布以及G、T等位基因频率，Runx2基因P2-1025T/C位点 TT、TC、CC基因型分布以及T、C等位基因频率在云南昆明地区汉族、云南红河地区哈尼族人群间无统计学差异（P > 0. 05)。 Runx2基因P1-330G/T位点GG和GT基因型，Runx2基因P2-1025T/C位点TC和TT基因型在哈尼族人群BMD正常和减低组间的差异有统计学意义(P <0.05)。Logistic回归分析显示，BMD与哈尼族人群Runx2基因P1-330 G/T位点、P2-1025T/C 位点、以及年龄因素的 OR 值和 95%CI 分别为：1.337，0.649 ~2.756;0. 132，0.024 ~0.710;1. 101，1.041 -1. 163。结论云南红河地区哈尼族与昆明地区汉族Runx2基因P1-330G/T位点和P2-1025T/C位点的基因型分布以及等位基因频率无人群间差异和地域性差异。Runx2基因P1-330G/T位点和P2-1025T/C位点的基因型分布以及等位基因频率在云南省红河地区哈尼族人群BMD正常和减低组间存在显著差异。Runx2基因P1-330G/T位点与BMD无关，年龄是BMD的危险因素，Runx2基因 P2-1025T/C位点可能是BMD的保护因素，该位点的T等位基因可能是BMD的保护基因。

英文摘要:

Objective To explore the polymorphism of Runx2 gene between Hani ethnic minority in Honghe and Han nationality in Kunming，Yunnan. Methods One hundred and twenty healthy screening people in the First Affiliated Hospital of Kunming Medical University were as Han population，and 126 Hani people in Honghe region were as Hani population. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to analyze the Runx2 gene promoter P1-330G/T allele polymorphism site. The RT-PCR TaqMan SNP genotyping method was used to analyze Runx2 gene second promoter P2-1025T/C allele polymorphism site, and the genotypes were sequenced. The bone mineral density (BMD) of the right calcaneus was measured using ultrasonic instrument. The difference of genotype distribution and allele frequencies between Hani ethnic minority and Han populations was compared, and the relationship between influencing factors and BMD in Hani population was analyzed. Results Both the genotype distribution sites of GG, GT, TT of Runx2 gene P1-330G/T and G, T allele frequency, and the genotype distribution sites of TT, TC, CC of Runx2 gene P2-1025T/C and T, C allele frequency had no significant difference between Hani ethnic minority and Han population in Yunnan (P > 0. 05). The genotype sites like GG and GT of Runx2 gene P1-330T/C, and genotype sites like TC and TT of Runx2 gene P2-1025T/C were different between normal BMD and low BMD group in Hani ethnic minority (P < 0. 05). Logistic regression analysis showed that in Hani population, the OR and 95 % CI of Runx2 gene P1-330 G/T locus, P2-1025T/C locus, and age to BMD were 1. 337, 0. 649-5. 756, 0. 132, 0. 024-0. 710, and 1. 101, 1. 041?1. 163, respectively. Conclusion The genotype distribution and allele frequencies of Runx2 gene P1-330 G/T and P25025 T/C polymorphism sites had no population and regional differences. The genotype distribution and allele frequencies of Runx2 gene P1-330G/T and P2-1025G/T polymorphism sites show significant difference between normal BMD and low BMD group of Hani population in Yunnan. Runx2 gene P1-330G/T site is not associated with BMD. Age is a risk factor for BMD. Runx2 gene P2- 1025T/C site may be a protection factor of BMD, and the T allele gene of this site may be a protective allele of BMD.

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