Genetics and Genomics of Osteoporosis

Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

1980 • 8,270 citations

Osteoprotegerin: A Novel Secreted Protein Involved in the Regulation of Bone Density

1997 • 5,058 citations

Risk Factors for Hip Fracture in White Women

1995 • 3,589 citations

Mutation of the mouse klotho gene leads to a syndrome resembling ageing

1997 • 3,518 citations

Genetic Dissection of Complex Traits

1994 • 3,497 citations

osteoprotegerin-deficient mice develop early onset osteoporosis and arterial calcification

1998 • 2,473 citations

Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome

1998 • 2,163 citations

Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice

1991 • 2,028 citations

Prediction of bone density from vitamin D receptor alleles

1994 • 1,931 citations

The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene

1990 • 1,763 citations

Characterization of single-nucleotide polymorphisms in coding regions of human genes

1999 • 1,531 citations

Prospects for whole-genome linkage disequilibrium mapping of common disease genes

1999 • 1,453 citations

Genetic determinants of bone mass in adults. A twin study.

1987 • 1,261 citations

c-Fos: a Key Regulator of Osteoclast-Macrophage Lineage Determination and Bone Remodeling

1994 • 1,253 citations

Linkage Analysis of IL4 and Other Chromosome 5q31.1 Markers and Total Serum Immunoglobulin E Concentrations

1994 • 1,025 citations

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis

1999 • 1,023 citations

Osteopetrosis in mice lacking NF-κB1 and NF-κB2

1997 • 988 citations

Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice

1998 • 900 citations

Cooperative Influence of Genetic Polymorphisms on Interleukin 6 Transcriptional Regulation

2000 • 802 citations

Mice lacking β3 integrins are osteosclerotic because of dysfunctional osteoclasts

2000 • 715 citations

A Vitamin D Receptor Gene Polymorphism in the Translation Initiation Codon: Effect on Protein Activity and Relation to Bone Mineral Density in Japanese Women

1997 • 640 citations

Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I α 1 gene

1996 • 630 citations

Identification of the HumanKlothoGene and Its Two Transcripts Encoding Membrane and SecretedKlothoProtein

1998 • 624 citations

Contribution of trans-acting factor alleles to normal physiological variability: vitamin D receptor gene polymorphism and circulating osteocalcin.

1992 • 604 citations

Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice

1998 • 594 citations

Genetic Factors in Determining Bone Mass

1973 • 586 citations

Sequence variation in the human angiotensin converting enzyme

1999 • 490 citations

DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene

1998 • 485 citations

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

2000 • 473 citations

Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification

1999 • 462 citations

The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal mexican-American women

1996 • 451 citations

Haplotype Structure and Population Genetic Inferences from Nucleotide-Sequence Variation in Human Lipoprotein Lipase

1998 • 439 citations

Relation of Alleles of the Collagen Type Iα1 Gene to Bone Density and the Risk of Osteoporotic Fractures in Postmenopausal Women

1998 • 425 citations

Are vitamin D receptor polymorphisms associated with bone mineral density? A meta-analysis

1996 • 421 citations

The heritability of bone mineral density, ultrasound of the calcaneus and hip axis length: A study of postmenopausal twins

1996 • 404 citations

Myocardial Infarction is Inversely Associated with Plasma 25-Hydroxyvitamin D3 Levels: A Community-Based Study

1990 • 393 citations

Structural Organization of the Human Vitamin D Receptor Chromosomal Gene and Its Promoter

1997 • 385 citations

Polymorphisms of the Transforming Growth Factor-β1 Gene in Relation to Myocardial Infarction and Blood Pressure

1996 • 370 citations

The Polymorphic N Terminus in Human Vitamin D Receptor Isoforms Influences Transcriptional Activity by Modulating Interaction with Transcription Factor IIB

2000 • 367 citations

Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta.

1993 • 333 citations

Linkage of a Gene Causing High Bone Mass to Human Chromosome 11 (11q12-13)

1997 • 321 citations

The relationship between osteoarthritis and osteoporosis in the general population: the Chingford Study.

1994 • 315 citations

Vitamin D–Receptor Gene Polymorphisms and Bone Density in Prepubertal American Girls of Mexican Descent

1997 • 283 citations

The Polymorphism in the Caudal-Related Homeodomain Protein Cdx-2 Binding Element in the Human Vitamin D Receptor Gene

2001 • 280 citations

Genetic epidemiology of single-nucleotide polymorphisms

1999 • 278 citations

Vitamin D receptor alleles and rates of bone loss: Influences of years since menopause and calcium intake

1995 • 260 citations

A large-scale population-based study of the association of vitamin D receptor gene polymorphisms with bone mineral density

1996 • 243 citations

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.

1996 • 241 citations

Genomic mechanisms involved in the pleiotropic actions of 1,25-dihydroxyvitamin D3

1996 • 233 citations

First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q

1998 • 222 citations

Determinants of Peak Bone Mass: Clinical and Genetic Analyses in a Young Female Canadian Cohort

1999 • 220 citations

Quantitative Trait Loci Affecting Peak Bone Mineral Density in Mice

1998 • 215 citations

Bone density determinants in elderly women: A twin study

1995 • 215 citations

Multiple promoters direct the tissue-specific expression of novel N-terminal variant human vitamin D receptor gene transcripts

1998 • 200 citations

Genome Screen for QTLs Contributing to Normal Variation in Bone Mineral Density and Osteoporosis*

2000 • 199 citations

The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants

2000 • 199 citations

Strength of linkage disequilibrium between two vitamin D receptor markers in five ethnic groups: implications for association studies.

1997 • 193 citations

Association between low bone density and stroke in elderly women. The study of osteoporotic fractures.

1993 • 183 citations

Recombinational and Mutational Hotspots within the Human Lipoprotein Lipase Gene

2000 • 179 citations

The Caudal-Related Homeodomain Protein Cdx-2 Regulates Vitamin D Receptor Gene Expression in the Small Intestine

1999 • 174 citations

Vitamin D receptor polymorphism, bone mineral density, and osteoporotic vertebral fracture: Studies in a UK population

1996 • 174 citations

Quantitative trait loci for bone density in C57BL/6J and CAST/EiJ inbred mice

1999 • 170 citations

The Association of Bone Mineral Density with Vitamin D Receptor Gene Polymorphisms

1999 • 168 citations

An Sp1 Binding Site Polymorphism in the COLIA1 Gene Predicts Osteoporotic Fractures in Both Men and Women

1998 • 168 citations

Vitamin D Receptor Gene Start Codon Polymorphisms (FokI) and Bone Mineral Density: Interaction with Age, Dietary Calcium, and 3′-End Region Polymorphisms

1998 • 164 citations

Osteoporosis induced in mice by overproduction of interleukin 4.

1993 • 159 citations

Mice deficient in Abl are osteoporotic and have defects in osteoblast maturation

2000 • 159 citations

Linkage of a QTL Contributing to Normal Variation in Bone Mineral Density to Chromosome 11q12–13

1998 • 152 citations

Vitamin D receptor genotype is associated with radiographic osteoarthritis at the knee.

1997 • 152 citations

Van Buchem Disease (Hyperostosis Corticalis Generalisata) Maps to Chromosome 17q12-q21

1998 • 152 citations

Sequence Diversity in 36 Candidate Genes for Cardiovascular Disorders

1999 • 146 citations

Suggestive Linkage of the Parathyroid Receptor Type 1 to Osteoporosis

1999 • 145 citations

The BsmI Vitamin D Receptor Restriction Fragment Length Polymorphism (bb) Influences the Effect of Calcium Intake on Bone Mineral Density

1997 • 145 citations

Lack of Correlation Between Start Codon Polymorphism of the Vitamin D Receptor Gene and Bone Mineral Density in Premenopausal French Women: The OFELY Study

1998 • 142 citations

Bone mineral density, collagen type 1 α 1 genotypes and bone turnover in premenopausal women with diabetes mellitus

1998 • 140 citations

Paget's Disease of Bone: Evidence for a Susceptibility Locus on Chromosome 18q and for Genetic Heterogeneity

1998 • 140 citations

Association of Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism with Bone Mineral Density in Postmenopausal Japanese Women

2000 • 139 citations

A genome-wide scan for loci linked to forearm bone mineral density

1999 • 139 citations

Collagen Iα1 Sp1 Polymorphism, Bone Mass, and Bone Turnover in Healthy French Premenopausal Women: The OFELY Study

1998 • 122 citations

Osteopetrosis and osteoporosis:two sides of the same coin

1999 • 118 citations

Vitamin D receptor 3′-untranslated region polymorphisms: lack of effect on mRNA stability

1999 • 115 citations

Identification of peak bone mass QTL in a spontaneously osteoporotic mouse strain

1999 • 111 citations

FokI Polymorphism at Translation Initiation Site of the Vitamin D Receptor Gene Predicts Bone Mineral Density and Vertebral Fractures in Postmenopausal Italian Women

1999 • 110 citations

Mutation analysis of coding sequences for type I procollagen in individuals with low bone density

1994 • 108 citations

Chromosomal Mapping of Osteopenia-Associated Quantitative Trait Loci Using Closely Related Mouse Strains

2000 • 103 citations

Association of polymorphism at the type I collagen (COL1A1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnover

1999 • 102 citations

Vitamin D receptor genotype and the risk of bone fractures in women.

1998 • 97 citations

Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation

1998 • 91 citations

Association of transforming growth factor β1 genotype with spinal osteophytosis in Japanese women

2000 • 91 citations

Mapping a Gene Defect in Absorptive Hypercalciuria to Chromosome 1q23.3-q24¹

1999 • 90 citations

Determinants of hip axis length in women aged 10–89 years: A twin study

1996 • 80 citations

Correction: Prediction of bone density from vitamin D raceptor alleles

1997 • 79 citations

The distribution of linkage disequilibrium over anonymous genome regions

1995 • 78 citations

Localization of a Gene for Autosomal Dominant Osteopetrosis (Albers-Schönberg Disease) to Chromosome 1p21

1997 • 73 citations

Association of Collagen Type 1 α1 Gene Polymorphism with Bone Density in Early Childhood1

1999 • 68 citations

Polymorphism at the Sp 1 Binding Site in the Collagen Type I α 1 Gene Does Not Predict Bone Mineral Density in Postmenopausal Women in Sweden

1998 • 68 citations

Sibling Pair Linkage and Association Studies between Bone Mineral Density and the Insulin-Like Growth Factor I Gene Locus1

1999 • 62 citations

Polymorphism at an Sp1 Binding Site of COL1A1 and Bone Mineral Density in Premenopausal Female Twins and Elderly Fracture Patients

1999 • 61 citations

Vitamin D Receptor Genotype and the Risk of Bone Fractures in Women

1998 • 59 citations

COLIA1 polymorphism contributes to bone mineral density to assess prevalent wrist fractures

2000 • 57 citations

Susceptibility to Osteoporotic Fracture is Determined by Allelic Variation at the Sp1 Site, Rather than Other Polymorphic Sites at the COL1A1 Locus

2000 • 56 citations

Fracture rate, pre- and postmenopausal bone mass and early and late postmenopausal bone loss are not associated with vitamin D receptor genotype in a high-endemic area of osteoporosis

1996 • 56 citations

Associations of the Collagen Type Iα1 Sp1 Polymorphism with Five-Year Rates of Bone Loss in Older Adults

2000 • 55 citations

Linkage of interleukin 6 locus to human osteopenia by sibling pair analysis

1999 • 47 citations

Effect of vitamin D receptor gene alleles on bone loss in early rheumatoid arthritis.

1998 • 47 citations

Ethnic Difference in Contribution of Sp1 Site Variation of COLIA1 Gene in Genetic Predisposition to Osteoporosis

1999 • 44 citations

Effects of Worldwide Population Subdivision on ALDH2 Linkage Disequilibrium

1999 • 42 citations

Lack of an intronic Sp1 binding-site polymorphism at the collagen type I α1 gene in healthy Korean women

1999 • 37 citations

No Association Was Found between Collagen αI Type 1 Gene and Bone Density in Prepubertal Children

1999 • 3 citations