LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. 2004

Takeshi Mizuguchi, and Itsuko Furuta, and Yukio Watanabe, and Kazuhiro Tsukamoto, and Hiroshi Tomita, and Mitsuhiro Tsujihata, and Tohru Ohta, and Tatsuya Kishino, and Naomichi Matsumoto, and Hisanori Minakami, and Norio Niikawa, and Koh-Ichiro Yoshiura
Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Sakamoto 1-12-4, Nagasaki 852-8523, Japan.

Osteoporosis is a multifactorial trait with low bone mineral density (BMD). We report results of an association study between BMD and nine candidate genes ( TGFB1, TGFBR2, SMAD2, SMAD3, SMAD4, IFNB1, IFNAR1, FOS and LRP5), as well as of a case-control study of osteoporosis. Samples for the former association study included 481 general Japanese women. Among the nine candidate genes examined, only LRP5 showed a significant association with BMD. We identified a strong linkage disequilibrium (LD) block within LRP5. Of five LPR5 single nucleotide polymorphisms (SNPs) that are located in the LD block, three gave relatively significant results: Women with the C/C genotype at the c.2220C>T SNP site had higher adjusted BMD (AdjBMD) value compared to those with C/T and T/T (p=0.022); and likewise, G/G at IVS17-30G>A and C/C women at c.3989C>T showed higher AdjBMD than those with G/A or A/A (p=0.039) and with C/T or T/T ( p=0.053), respectively. The case-control study in another series of samples consisting of 126 osteoporotic patients and 131 normal controls also gave a significant difference in allele frequency at c.2220C>T (kappa2=6.737, p=0.009). These results suggest that LRP5 is a BMD determinant and also contributes to a risk of osteoporosis.

UI MeSH Term Description Entries
D007564 Japan A country in eastern Asia, island chain between the North Pacific Ocean and the Sea of Japan, east of the Korean Peninsula. The capital is Tokyo. Bonin Islands
D010024 Osteoporosis Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. Age-Related Osteoporosis,Bone Loss, Age-Related,Osteoporosis, Age-Related,Osteoporosis, Post-Traumatic,Osteoporosis, Senile,Senile Osteoporosis,Osteoporosis, Involutional,Age Related Osteoporosis,Age-Related Bone Loss,Age-Related Bone Losses,Age-Related Osteoporoses,Bone Loss, Age Related,Bone Losses, Age-Related,Osteoporoses,Osteoporoses, Age-Related,Osteoporoses, Senile,Osteoporosis, Age Related,Osteoporosis, Post Traumatic,Post-Traumatic Osteoporoses,Post-Traumatic Osteoporosis,Senile Osteoporoses
D011973 Receptors, LDL Receptors on the plasma membrane of nonhepatic cells that specifically bind LDL. The receptors are localized in specialized regions called coated pits. Hypercholesteremia is caused by an allelic genetic defect of three types: 1, receptors do not bind to LDL; 2, there is reduced binding of LDL; and 3, there is normal binding but no internalization of LDL. In consequence, entry of cholesterol esters into the cell is impaired and the intracellular feedback by cholesterol on 3-hydroxy-3-methylglutaryl CoA reductase is lacking. LDL Receptors,Lipoprotein LDL Receptors,Receptors, Low Density Lipoprotein,LDL Receptor,LDL Receptors, Lipoprotein,Low Density Lipoprotein Receptor,Low Density Lipoprotein Receptors,Receptors, Lipoprotein, LDL,Receptor, LDL,Receptors, Lipoprotein LDL
D005260 Female Females
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001483 Base Sequence The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
D015519 Bone Density The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS. Bone Mineral Content,Bone Mineral Density,Bone Densities,Bone Mineral Contents,Bone Mineral Densities,Density, Bone,Density, Bone Mineral
D015810 Linkage Disequilibrium Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone. Disequilibrium, Linkage,Disequilibriums, Linkage,Linkage Disequilibriums
D016022 Case-Control Studies Comparisons that start with the identification of persons with the disease or outcome of interest and a control (comparison, referent) group without the disease or outcome of interest. The relationship of an attribute is examined by comparing both groups with regard to the frequency or levels of outcome over time. Case-Base Studies,Case-Comparison Studies,Case-Referent Studies,Matched Case-Control Studies,Nested Case-Control Studies,Case Control Studies,Case-Compeer Studies,Case-Referrent Studies,Case Base Studies,Case Comparison Studies,Case Control Study,Case Referent Studies,Case Referrent Studies,Case-Comparison Study,Case-Control Studies, Matched,Case-Control Studies, Nested,Case-Control Study,Case-Control Study, Matched,Case-Control Study, Nested,Case-Referent Study,Case-Referrent Study,Matched Case Control Studies,Matched Case-Control Study,Nested Case Control Studies,Nested Case-Control Study,Studies, Case Control,Studies, Case-Base,Studies, Case-Comparison,Studies, Case-Compeer,Studies, Case-Control,Studies, Case-Referent,Studies, Case-Referrent,Studies, Matched Case-Control,Studies, Nested Case-Control,Study, Case Control,Study, Case-Comparison,Study, Case-Control,Study, Case-Referent,Study, Case-Referrent,Study, Matched Case-Control,Study, Nested Case-Control

Related Publications

Takeshi Mizuguchi, and Itsuko Furuta, and Yukio Watanabe, and Kazuhiro Tsukamoto, and Hiroshi Tomita, and Mitsuhiro Tsujihata, and Tohru Ohta, and Tatsuya Kishino, and Naomichi Matsumoto, and Hisanori Minakami, and Norio Niikawa, and Koh-Ichiro Yoshiura
January 2008, Human heredity,
Takeshi Mizuguchi, and Itsuko Furuta, and Yukio Watanabe, and Kazuhiro Tsukamoto, and Hiroshi Tomita, and Mitsuhiro Tsujihata, and Tohru Ohta, and Tatsuya Kishino, and Naomichi Matsumoto, and Hisanori Minakami, and Norio Niikawa, and Koh-Ichiro Yoshiura
April 2010, Bone,
Takeshi Mizuguchi, and Itsuko Furuta, and Yukio Watanabe, and Kazuhiro Tsukamoto, and Hiroshi Tomita, and Mitsuhiro Tsujihata, and Tohru Ohta, and Tatsuya Kishino, and Naomichi Matsumoto, and Hisanori Minakami, and Norio Niikawa, and Koh-Ichiro Yoshiura
March 2010, Journal of orthopaedic research : official publication of the Orthopaedic Research Society,
Takeshi Mizuguchi, and Itsuko Furuta, and Yukio Watanabe, and Kazuhiro Tsukamoto, and Hiroshi Tomita, and Mitsuhiro Tsujihata, and Tohru Ohta, and Tatsuya Kishino, and Naomichi Matsumoto, and Hisanori Minakami, and Norio Niikawa, and Koh-Ichiro Yoshiura
January 2008, Oncogene,
Takeshi Mizuguchi, and Itsuko Furuta, and Yukio Watanabe, and Kazuhiro Tsukamoto, and Hiroshi Tomita, and Mitsuhiro Tsujihata, and Tohru Ohta, and Tatsuya Kishino, and Naomichi Matsumoto, and Hisanori Minakami, and Norio Niikawa, and Koh-Ichiro Yoshiura
April 2007, Bone,
Takeshi Mizuguchi, and Itsuko Furuta, and Yukio Watanabe, and Kazuhiro Tsukamoto, and Hiroshi Tomita, and Mitsuhiro Tsujihata, and Tohru Ohta, and Tatsuya Kishino, and Naomichi Matsumoto, and Hisanori Minakami, and Norio Niikawa, and Koh-Ichiro Yoshiura
January 2003, Proceedings of the National Academy of Sciences of the United States of America,
Takeshi Mizuguchi, and Itsuko Furuta, and Yukio Watanabe, and Kazuhiro Tsukamoto, and Hiroshi Tomita, and Mitsuhiro Tsujihata, and Tohru Ohta, and Tatsuya Kishino, and Naomichi Matsumoto, and Hisanori Minakami, and Norio Niikawa, and Koh-Ichiro Yoshiura
November 2004, Nihon Ronen Igakkai zasshi. Japanese journal of geriatrics,
Takeshi Mizuguchi, and Itsuko Furuta, and Yukio Watanabe, and Kazuhiro Tsukamoto, and Hiroshi Tomita, and Mitsuhiro Tsujihata, and Tohru Ohta, and Tatsuya Kishino, and Naomichi Matsumoto, and Hisanori Minakami, and Norio Niikawa, and Koh-Ichiro Yoshiura
January 2004, Journal of bone and mineral metabolism,
Takeshi Mizuguchi, and Itsuko Furuta, and Yukio Watanabe, and Kazuhiro Tsukamoto, and Hiroshi Tomita, and Mitsuhiro Tsujihata, and Tohru Ohta, and Tatsuya Kishino, and Naomichi Matsumoto, and Hisanori Minakami, and Norio Niikawa, and Koh-Ichiro Yoshiura
April 2010, Clinical endocrinology,
Takeshi Mizuguchi, and Itsuko Furuta, and Yukio Watanabe, and Kazuhiro Tsukamoto, and Hiroshi Tomita, and Mitsuhiro Tsujihata, and Tohru Ohta, and Tatsuya Kishino, and Naomichi Matsumoto, and Hisanori Minakami, and Norio Niikawa, and Koh-Ichiro Yoshiura
February 2002, Human mutation,
Copied contents to your clipboard!