摘要
目的探讨LncRNA Reg1cp基因rs3819316位点多态性与新疆人群骨密度及骨代谢指标的相关的相关性分析。方法选择2019年1月-2020年12月于新疆维吾尔自治区人民医院就诊的649例患者,提取研究对象全血基因组DNA,采用Sequenom-质谱分析平台确定LncRNA Reg1cp基因单核苷酸多态性(SNP)位点rs3819316的基因分型,按照年龄/绝经状态分组,比较不同基因型骨密度(前臂1/3、腰椎整体、股骨颈、全髋)及骨代谢指标[I型前胶原氨基末端肽(PINP)、I型胶原交联C末端肽(β-CTX)、甲状旁腺激素(PTH)、25羟维生素D(25OHD)]的差异。结果(1)该人群LncRNA Reg1cp基因rs3819316位点基因型频率为:AA 0.92%,AG 14.33%,GG 84.75%,A和G等位基因频率分别为8.09%和91.91%;(2)按年龄及绝经状态分组后,发现仅在20岁-50岁组男性中发现携带突变基因的人群股骨颈骨密度高于未携带突变基因组(GG vs.AA/AG:0.83±0.11 vs.0.91±0.16,P=0.037)。骨代谢指标男性及女性各组间比较差异均无统计学意义(P均>0.05)。结论LncRNA Reg1cp rs3819316位点为骨量调节的基因,在20岁-50岁携带LncRNA Reg1cp基因突变的男性股骨颈骨密度更高。
Objective To explore the correlation between rs3819316 polymorphism of long noncoding RNA(LncRNA)Reg1cp gene and bone density and bone metabolism indicators in Xinjiang population.Methods A total of 649 cases admitted in the People's hospital of Xinjiang Uygur Autonomous Region from January 2019 to December 2020 were selected.The whole blood genomic DNA of the study subjects was extracted,and sequenom-mass spectrometry analysis platform was used to determine the genotyping of LncRNA Reg1cp gene single nucleotide polymorphism(SNP)locus rs3819316,and the genetic model were analyzed.According to ages or menopausal status,the differences in bone density(forearm 1/3,lumbar spine whole,femoral neck,total hip)and bone metabolism indicators[type I procollagen amino-terminal peptide(PINP),β-isomerized type I collagen carboxy-terminal peptide(β-CTX),parathyroid hormone(PTH),25-hydroxy vitamin D(25OHD)]were compared between different genotypes.Results(1)The genotype frequency of LncRNA Reg1cp gene rs3819316 in this population was AA type accounting for 0.92%,AG type being 14.33%,GG type accounting for 84.75%,and A and G alleles frequencies being 8.09%and 91.91%,respectively;(2)Grouped by ages and menopausal status,only men from 20 to 50 years old were found to carry the mutant gene in the hip and neck bone density was higher than those in the non-mutant genome(GG vs AA/AG:0.83±0.11 vs 0.91±0.16,P=0.037).There was no significant difference in bone metabolism between male and female groups(P>0.05).Conclusion The LncRNA Reg1cp gene rs3819316 polymorphism is significantly related to bone mass regulation,men aged 20 to 50 years old who carry the LncRNA Reg1cp gene mutation have higher femoral neck bone density.
作者
张凯迪
王新玲
衡燕
李慧
王卢凤
邢淑清
南燕
袁欣
郭艳英
ZHANG Kaidi;WANG Xinling;HENG Yan;LIHui;WANG Lufeng;XING Shuqing;NAN Yan;YUAN Xin;GUO Yanying(Department of endocrinology,People's Hospital of Xinjiang Uygur Autonomous Region,Xinjiang Clinical Research Center for Diabetes,Urumqi,830001,China)
出处
《新疆医学》
2023年第10期1189-1192,共4页
Xinjiang Medical Journal
基金
新疆维吾尔自治区科技支疆项目(项目编号:2020E0281)
新疆维吾尔自治区人民医院院内项目(项目编号:20200105)。
作者简介
张凯迪,女,硕士,住院医师,研究方向:骨代谢疾病的研究;通信作者:郭艳英,女,博士,主任医师,研究方向:内分泌与代谢病的临床及基础研究。E-mail:guozeyang@126.com。
