Apolipoprotein E gene E2/E2 genotype is a genetic risk factor for vertebral fractures in humans: a large-scale study
Shu Qi Zhang1, Wei Ying Zhang, Wen Qin Ye
1Department of Nursing, Changhai Hospital Affiliated to the Second Military Medical University, NO.168 Changhai Road, Shanghai, 200433, China.
Purpose:
Although many studies have been performed to evaluate whether or not apolipoprotein E gene (APOE) polymorphisms are differentially associated with bone mineral density (BMD) and fractures, the results have been conflicting. This large-scale study was performed to investigate whether a relationship exists between APOE polymorphisms and risk of fracture.
Methods:
A hospital-based case-control study was conducted in 3,000 patients with fractures and 3,000 age- and gender-matched healthy controls. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay was applied to assess the APOE gene polymorphisms.
Results:
Patients with fractures had a significantly higher frequency of APOE E2/E2 genotype [odds ratio (OR) = 2.02, 95% confidence interval (CI) = 1.30, 3.14; P = 0.002] than healthy controls. When stratifying by fracture type, it was found that patients with vertebral fractures had a significantly higher frequency of APOE E2/E2 genotype (OR = 2.86, 95% CI = 1.73, 4.73; P < 0.001). No significant differences were found in nonvertebral (hip or wrist or other) fractures.
Conclusions:
Our study suggests that APOE E2/E2 genotype is a potential genetic risk factor for vertebral fractures in humans.
More Related Videos
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
09:37A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
Related Concept Videos
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenomics: Identification of New Drug Targets
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
