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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Bone Disorders01:29

Bone Disorders

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
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...
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...

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Related Experiment Videos

Large-scale association study between two coding LRP5 gene polymorphisms and bone phenotypes and fractures in men.

E Grundberg1, E M Lau, M Lorentzon

  • 1Department of Medical Sciences, Uppsala University Hospital, 75185 Uppsala, Sweden. Elin.Grundberg@medsci.uu.se

Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
|November 21, 2007
PubMed
Summary

The Val667Met polymorphism in the LRP5 gene is associated with lower spine bone mineral density (BMD) in Swedish men. This finding highlights LRP5 gene variations

Related Experiment Videos

Area of Science:

  • Genetics and Molecular Biology
  • Bone Biology and Osteoporosis Research
  • Human Population Genetics

Background:

  • The low-density lipoprotein receptor-related protein 5 (LRP5)-Wnt signaling pathway is crucial for osteoblast regulation.
  • Inactivating mutations in LRP5 are known to cause osteoporosis.
  • Understanding LRP5 gene variations is key to comprehending bone density variability.

Purpose of the Study:

  • To investigate the association between LRP5 gene polymorphisms and bone mineral density (BMD) in large male cohorts.
  • To explore the relationship between specific LRP5 SNPs and bone phenotypes, including fractures.

Main Methods:

  • Meta-analysis of three large male cohorts: MrOS Sweden (n=3014), MrOs Hong Kong (n=2000), and the Swedish GOOD study (n=1068).
  • Genotyping of LRP5 polymorphisms Val667Met and Ala1330Val using TaqMan assay.
  • Analysis of associations between SNPs and lumbar spine BMD, and self-reported fractures.

Main Results:

  • A meta-analysis of Swedish cohorts (n=3800) revealed that men carrying the 667Met-allele had 3% lower spine BMD (p < 0.05).
  • The Val667Met SNP was not polymorphic in the Hong Kong population.
  • No significant associations were found between LRP5 polymorphisms and self-reported fractures.

Conclusions:

  • The Val667Met polymorphism in the LRP5 gene is a contributing factor to BMD variability in Swedish male populations.
  • The Ala1330Val polymorphism did not show a significant association with bone phenotypes in the studied cohorts.
  • Further research into LRP5's role in bone health is warranted.