伊朗东南部人群中 rs4516035 多态性与骨质疏松症的关系:病例对照研究

IF 1.4 Q3 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH
M. Yaghoobi, Azadeh Samare Gholami
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引用次数: 0

摘要

背景:众所周知,基因多态性在骨质疏松症的发病中起着至关重要的作用。维生素 D3 通过维生素 D 受体(VDR)调节骨平衡。VDR 活性降低会增加骨质疏松症的风险。研究设计:病例对照研究。研究方法:病例对照研究:本病例对照研究调查了克尔曼省 VDR 基因中的六个单核苷酸多态性(SNPs)(rs11568820、rs4516035、rs2228570、rs1544410、rs7975232 和 rs731236)与骨质疏松症发生之间的潜在关联。采用聚合酶链式反应-限制性片段长度多态性、四引物扩增难治性突变系统-PCR 和测序方法,对两组骨质疏松症患者(40 人)和对照组(42 人)的 SNP 基因型进行了分析。此外,还测定了患者血清中钙和维生素 D3 的水平,并使用 I-TASSER、ProSA、PROCHECK、GeneMANIA、GTEx 和 GPS 6.0 对 VDR 结构和相互作用进行了硅学分析。结果显示所有患者均未出现钙或维生素 D3 缺乏症。在六个 SNPs 中,只有 rs4516035 中的 T 等位基因与骨质疏松症的易感性有显著关联(几率比=3.061,P=0.007),该等位基因会导致一种称为 VDRA 的较短变异。硅学分析表明,VDRA 的三维结构、表达和转录后修饰与更长的变体 VDRB1 截然不同。VDRB1 在暴露于阳光的皮肤中上调,其与伙伴的相互作用与 VDRA 不同。结论在研究人群中,尽管维生素 D 水平充足,但活性较低的 VDRA 变体可能会增加骨质疏松症的易感性。这些发现阐明了基因筛查对个性化医疗的重要性,以及预防和治疗策略的有效性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Association of rs4516035 Polymorphism with Osteoporosis in the Southeastern Iranian Population: A Case-Control Study
Background: Genetic polymorphisms are known to play a crucial role in the development of osteoporosis. Vitamin D3 regulates bone homeostasis through the vitamin D receptor (VDR). Reduced VDR activity increases osteoporosis risk. Study Design: A case-control study. Methods: This case-control study investigated the potential association between six single-nucleotide polymorphisms (SNPs) within the VDR gene (rs11568820, rs4516035, rs2228570, rs1544410, rs7975232, and rs731236) and the occurrence of osteoporosis in Kerman province. The genotypes of the SNPs were analyzed using polymerase chain reaction-restriction fragment length polymorphism, tetra primer amplification refractory mutation system-PCR, and sequencing in two groups of osteoporosis patients (n=40) and controls (n=42). Additionally, the levels of calcium and vitamin D3 in the serum of the patients were measured, and the in silico analysis of the VDR structure and interaction was performed using I-TASSER, ProSA, PROCHECK, GeneMANIA, GTEx, and GPS 6.0. Results: None of the patients exhibited calcium or vitamin D3 deficiencies. Among the six SNPs, only the T allele in rs4516035, which leads to a shorter variant called VDRA, showed a significant association with susceptibility to osteoporosis (odds ratio=3.061, P=0.007). The in silico analysis demonstrated that the 3D structure, expression, and post-transcriptional modification of VDRA are distinct from those of the more extended variant, VDRB1. VDRB1 is upregulated in sun-exposed skin, and its interactions with its partners differ from those of VDRA. Conclusion: Despite adequate vitamin D levels, the VDRA variant, which has lower activity, could increase the predisposition to osteoporosis in the studied population. These findings clarify the importance of genetic screening for personalized medicine and the effectiveness of prevention and treatment strategies.
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来源期刊
Journal of research in health sciences
Journal of research in health sciences PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH-
CiteScore
2.30
自引率
13.30%
发文量
7
期刊介绍: The Journal of Research in Health Sciences (JRHS) is the official journal of the School of Public Health; Hamadan University of Medical Sciences, which is published quarterly. Since 2017, JRHS is published electronically. JRHS is a peer-reviewed, scientific publication which is produced quarterly and is a multidisciplinary journal in the field of public health, publishing contributions from Epidemiology, Biostatistics, Public Health, Occupational Health, Environmental Health, Health Education, and Preventive and Social Medicine. We do not publish clinical trials, nursing studies, animal studies, qualitative studies, nutritional studies, health insurance, and hospital management. In addition, we do not publish the results of laboratory and chemical studies in the field of ergonomics, occupational health, and environmental health
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