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Related Concept Videos

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Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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LRP5 gene polymorphism and cortical bone.

Fulvio Lauretani1, Chiara Cepollaro, Stefania Bandinelli

  • 1Tuscany Regional Health Agency, Italy. flauretani@ao.pr.it

Aging Clinical and Experimental Research
|December 1, 2010
PubMed
Summary
This summary is machine-generated.

Genetic variations in the LRP5 gene, specifically Ala1330Val and Val667Met, are linked to altered bone structure. These LRP5 polymorphisms significantly impact cortical bone area in women, suggesting a role in bone geometry determination.

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Area of Science:

  • Genetics and Bone Biology
  • Skeletal Physiology
  • Osteoporosis Research

Background:

  • Distinct genetic polymorphisms in the Low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with reduced Bone Mineral Density (BMD) and increased fracture risk.
  • However, the impact of LRP5 polymorphisms on detailed micro- and macro-architectural bone characteristics, as assessed by peripheral quantitative computed tomography (pQCT), remains largely unexplored.

Purpose of the Study:

  • To investigate the association between specific LRP5 gene polymorphisms (Ala1330Val and Val667Met) and volumetric BMD (vBMD) and macro-architectural bone parameters.
  • To analyze these associations in a population-based sample of men and women.

Main Methods:

  • A cohort of 959 participants (451 men, 508 women) from the InCHIANTI study was analyzed.
  • Peripheral quantitative computed tomography (pQCT) was used to assess trabecular vBMD (vBMDt), cortical vBMD (vBMDc), cortical bone area (CBA), and cortical thickness (Ct.Th) of the tibia.
  • LRP5 genotypes (Ala1330Val and Val667Met) were determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

Main Results:

  • Age-adjusted analyses revealed that both LRP5 1330-valine and 667-methionine variants were associated with lower vBMDt in men.
  • In women, these variants were associated with lower vBMDt, Ct.Th, and CBA.
  • After adjusting for multiple confounders, the association of LRP5 1330-valine and 667-methionine with CBA remained statistically significant in women.

Conclusions:

  • The findings suggest that the Ala1330Val and Val667Met polymorphisms in the LRP5 gene may influence the determination of geometric bone parameters.
  • Specifically, these LRP5 polymorphisms appear to affect cortical bone area in women.