Linked Life Data

14565595

Source:http://linkedlifedata.com/resource/pubmed/id/14565595

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2003-10-20
pubmed:abstractText
Two candidate genes for bone mineral density (BMD), tumor necrosis factor alpha receptor 2 (TNFRSF1B) and lysyl hydroxylase (PLOD1), have been scanned for single nucleotide polymorphisms (SNPs) within their coding and promoter regions. These two genes, separated by about 200 kb, are located within the chromosomal interval 1p36.2-1p36.3 that has been linked to femoral neck BMD. In a patient population (n = 104) of European descent, there were four SNPs within TNFRSF1B and six SNPs within PLOD1 that occurred with greater than 5% frequency. There was significant linkage disequilibrium within both genes. Single marker analysis revealed significant association for one SNP located in intron 6 of PLOD1 and lumbar spine BMD (P = 0.01). Allelic haplotypes that encompassed the four SNPs in TNFRSF1B or the six SNPs in PLOD1 were assigned using a Bayesian algorithm as implemented in the program Haplotyper. Association of TNFRSF1B haplotypes with femoral neck BMD was statistically significant (P = 0.01). Similarly, PLOD1 haplotypes demonstrated a statistically significant association with spinal BMD (P = 0.04). These findings strengthen the potential importance of chromosome 1p36.2-1p36.3 in contributing to BMD variation, and are consistent with genetic variation in either PLOD1, TNFRSF1B or nearby genes playing a role in the phenotype.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0171-967X
pubmed:author
pubmed:issnType
Print
pubmed:volume
73
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
140-6
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed-meshheading:14565595-Antigens, CD, pubmed-meshheading:14565595-Bone Density, pubmed-meshheading:14565595-Chromosomes, Human, Pair 1, pubmed-meshheading:14565595-Female, pubmed-meshheading:14565595-Haplotypes, pubmed-meshheading:14565595-Humans, pubmed-meshheading:14565595-Linkage Disequilibrium, pubmed-meshheading:14565595-Male, pubmed-meshheading:14565595-Middle Aged, pubmed-meshheading:14565595-Polymerase Chain Reaction, pubmed-meshheading:14565595-Polymorphism, Genetic, pubmed-meshheading:14565595-Polymorphism, Single Nucleotide, pubmed-meshheading:14565595-Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase, pubmed-meshheading:14565595-Promoter Regions, Genetic, pubmed-meshheading:14565595-Receptors, Tumor Necrosis Factor, pubmed-meshheading:14565595-Receptors, Tumor Necrosis Factor, Type II
pubmed:year
2003
pubmed:articleTitle
Association analysis of bone mineral density and single nucleotide polymorphisms in two candidate genes on chromosome 1p36.
pubmed:affiliation
Department of Bioscience and Biotechnology, Drexel University, Philadelphia, PA 19104, USA. spotilld@drexel.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.