Osteoporosis: A Silent Disease with Complex Genetic Contribution

被引：40

作者：

Golchin, Maryam Mafi ^{[1
]}

Heidari, Laleh ^{[2
]}

Ghaderian, Seyyed Mohammad Hossein ^{[2
]}

Akhavan-Niaki, Haleh ^{[1
]}

机构：

[1] Babol Univ Med Sci, Dept Genet, Fac Med, Babol Sar 4717647745, Iran

[2] Shahid Beheshti Univ Med Sci & Hlth Serv, Dept Med Genet, Fac Med, Tehran 1985717443, Iran

来源：

JOURNAL OF GENETICS AND GENOMICS | 2016年 / 43卷 / 02期

关键词：

Osteoporosis; Bone mineral density; Regulatory pathways; Single nucleotide polymorphisms; BONE-MINERAL DENSITY; GENOME-WIDE ASSOCIATION; SP1; BINDING-SITE; X-RAY ABSORPTIOMETRY; RISK-FACTORS; TRANSFORMING GROWTH-FACTOR-BETA-1; QUANTITATIVE ULTRASOUND; TARGETED DISRUPTION; VERTEBRAL FRACTURES; PAGETS-DISEASE;

D O I：

10.1016/j.jgg.2015.12.001

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Osteoporosis is the most common multifactorial metabolic bone disorder worldwide with a strong genetic component. In this review, the evidence for a genetic contribution to osteoporosis and related phenotypes is summarized alongside with methods used to identify osteoporosis susceptibility genes. The key biological pathways involved in the skeleton and bone development are discussed with a particular focus on master genes clustered in these pathways and their mode of action. Furthermore, the most studied single nucleotide polymorphisms (SNPs) analyzed for their importance as genetic markers of the disease are presented. New data generated by next-generation sequencing in conjunction with extensive meta-analyses should contribute to a better understanding of the genetic basis of osteoporosis and related phenotype variability. These data could be ultimately used for identifying at-risk patients for disease prevention by both controlling environmental factors and providing possible therapeutic targets.

引用

页码：49 / 61

页数：13

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