Aim: To investigate the effect of low-density lipoprotein receptor-related protein 5 (LRP5) gene polymorphisms on bone and obesity phenotypes in young Chinese men.
Methods: A total of 1244 subjects from 411 Chinese nuclear families were genotyped by using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique at the Q89R, N740N, and A1330V sites in the LRP5 gene. Bone mineral density (BMD) in the lumbar spine and the hip, total fat mass and total lean mass were measured using dual-energy X-ray absorptiometry. The association between LRP5 gene polymorphisms and peak BMD, body mass index (BMI), total fat mass, total lean mass and percentage of fat mass was assessed using a quantitative transmission disequilibrium test (QTDT).
Results: No significant within-family associations were found between genotypes or haplotypes of the LRP5 gene and peak BMD, BMI, total fat mass, total lean mass and percentage of fat mass. The 1000 permutations that were subsequently simulated were in agreement with these within-family association results.
Conclusion: Our results suggest that common polymorphic variations of the LRP5 gene do not influence peak bone mass acquisition and obesity phenotypes in young Chinese men.
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http://dx.doi.org/10.1038/aps.2010.92 | DOI Listing |
Front Endocrinol (Lausanne)
December 2024
Section of Endocrinology & Investigative Medicine, Imperial College London, London, United Kingdom.
Normal pregnancy and lactation have a marked physiological impact on maternal bone metabolism. This impact is usually temporary and reversible, but some women sustain fragility fractures whilst pregnant or lactating, termed pregnancy and lactation-associated osteoporosis (PLO). These fractures have severe negative consequences on their quality of life, at what is a crucial stage in a mother's life.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
December 2024
Paris Cardiovascular Research Center, Université Paris Cité, Inserm U970, Paris F-75015, France.
The integrity of the blood-retina barrier (BRB) is crucial for phototransduction and vision, by tightly restricting transport of molecules between the blood and surrounding neuronal cells. Breakdown of the BRB leads to the development of retinal diseases. Here, we show that Netrin-1/Unc5b and Norrin/Lrp5 signaling establish a zonated endothelial cell gene expression program that controls BRB integrity.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
December 2024
Developmental Biology and Cancer Department, University College London Great Ormond Street Institute of Child Health, University College London, and National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, London WC1N 1EH, United Kingdom.
Variants in the gene cause Norrie disease, a severe dual-sensory disorder characterized by congenital blindness due to disrupted retinal vascular development and progressive hearing loss accompanied by sensory hair cell death. encodes the secreted signaling molecule norrin. The role of norrin in the cochlea is incompletely understood.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
November 2024
Division of Endocrinology, The Council of Scientific and Industrial Research (CSIR)-Central Drug Research Institute, Lucknow, India.
Background: Genetic mutations have been reported in a number of bone disorders with or without extra-skeletal manifestations. The purpose of the present study was to investigate the genetic cause in a middle-aged woman with osteoporosis, recurrent fractures and extraskeletal manifestations.
Methods: A 56-year-old Indian woman presented to the clinic with complaints of difficulty in walking, recurrent fractures, limb bending, progressive skeletal deformities, and poor overall health.
Int J Med Sci
November 2024
Center for Endemic Disease Control, Chinese Center for Disease Control and Prevention, Harbin Medical University, Harbin, People's Republic of China.
Epidemiological evidence has shown that genetics and environment are associated with the risk of hypertension. However, the specific SNP effects of a cluster of crucial genes in the RAAS system on the risk of hypertension are unclear. A case-control study was performed on the baseline participants of Environment and Chronic Disease in Rural Areas of Heilongjiang China (ECDRAHC) study.
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