Lack of association between the SOST gene and bone mineral density in perimenopausal women: Analysis of five polymorphism

W Balemans, D Foernzler, C Parsons, M Ebeling, A Thompson, D M Reid, K Lindpaintner, S H Ralston, W Van Hul

Research output: Contribution to journalArticle

37 Citations (Scopus)

Abstract

Osteoporosis is a common disease characterized by a decrease in bone mass, architectural deterioration of the bone tissue, and an increased risk of fracture. The condition is under strong genetic control, involving a large variety of gene products, but to date the genes responsible remain poorly defined. Although population-based studies have identified polymorphisms in several candidate genes that are associated with bone mineral density (BMD), these account for only a small proportion of the population variance in bone mass. In this study, we looked for evidence of an allelic association between polymorphisms in the SOST gene and BMD. This gene was analyzed because loss-of-function mutations in SOST cause sclerosteosis, a sclerosing bone dysplasia associated with increased bone mass due to increased bone formation. We identified 26 different polymorphisms in the SOST gene and selected 5 of these for association analysis in a case-control study of 619 women with either high or low BMD, drawn from a random population-based survey of 5119 perimenopausal white women. The high BMD group comprised 326 women in whom lumbar spine BMD values adjusted for age, height, and weight were in the highest 16% of the population distribution, and the low BMD group comprised 293 women in whom BMD values were in the lowest 16% of the population distribution. The distribution of genotypes and alleles for each Single Nucleotide Polymorphism (SNP) examined did not differ in the low and high BMD groups. We conclude that, in this population, common allelic variations in the SOST gene do not contribute significantly to the regulation of high or low BMD.

Original languageEnglish
Pages (from-to)515-519
Number of pages5
JournalBone
Volume31
Publication statusPublished - 2002

Keywords

  • SOST
  • polymorphisms bone mineral density (BMD)
  • association study
  • osteoporosis
  • TRANSFORMING GROWTH-FACTOR-BETA-1 GENE
  • AUTOSOMAL RECESSIVE OSTEOPETROSIS
  • POSTMENOPAUSAL JAPANESE WOMEN
  • CAMURATI-ENGELMANN-DISEASE
  • REGIONAL OSTEOPOROSIS
  • RECRUITMENT METHODS
  • SCREENING PROGRAMS
  • RECEPTOR GENE
  • MASS
  • PROTEIN

Cite this

Balemans, W., Foernzler, D., Parsons, C., Ebeling, M., Thompson, A., Reid, D. M., ... Van Hul, W. (2002). Lack of association between the SOST gene and bone mineral density in perimenopausal women: Analysis of five polymorphism. Bone, 31, 515-519.

Lack of association between the SOST gene and bone mineral density in perimenopausal women: Analysis of five polymorphism. / Balemans, W ; Foernzler, D ; Parsons, C ; Ebeling, M ; Thompson, A ; Reid, D M ; Lindpaintner, K ; Ralston, S H ; Van Hul, W .

In: Bone, Vol. 31, 2002, p. 515-519.

Research output: Contribution to journalArticle

Balemans, W, Foernzler, D, Parsons, C, Ebeling, M, Thompson, A, Reid, DM, Lindpaintner, K, Ralston, SH & Van Hul, W 2002, 'Lack of association between the SOST gene and bone mineral density in perimenopausal women: Analysis of five polymorphism', Bone, vol. 31, pp. 515-519.
Balemans W, Foernzler D, Parsons C, Ebeling M, Thompson A, Reid DM et al. Lack of association between the SOST gene and bone mineral density in perimenopausal women: Analysis of five polymorphism. Bone. 2002;31:515-519.
Balemans, W ; Foernzler, D ; Parsons, C ; Ebeling, M ; Thompson, A ; Reid, D M ; Lindpaintner, K ; Ralston, S H ; Van Hul, W . / Lack of association between the SOST gene and bone mineral density in perimenopausal women: Analysis of five polymorphism. In: Bone. 2002 ; Vol. 31. pp. 515-519.
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T1 - Lack of association between the SOST gene and bone mineral density in perimenopausal women: Analysis of five polymorphism

AU - Balemans, W

AU - Foernzler, D

AU - Parsons, C

AU - Ebeling, M

AU - Thompson, A

AU - Reid, D M

AU - Lindpaintner, K

AU - Ralston, S H

AU - Van Hul, W

PY - 2002

Y1 - 2002

N2 - Osteoporosis is a common disease characterized by a decrease in bone mass, architectural deterioration of the bone tissue, and an increased risk of fracture. The condition is under strong genetic control, involving a large variety of gene products, but to date the genes responsible remain poorly defined. Although population-based studies have identified polymorphisms in several candidate genes that are associated with bone mineral density (BMD), these account for only a small proportion of the population variance in bone mass. In this study, we looked for evidence of an allelic association between polymorphisms in the SOST gene and BMD. This gene was analyzed because loss-of-function mutations in SOST cause sclerosteosis, a sclerosing bone dysplasia associated with increased bone mass due to increased bone formation. We identified 26 different polymorphisms in the SOST gene and selected 5 of these for association analysis in a case-control study of 619 women with either high or low BMD, drawn from a random population-based survey of 5119 perimenopausal white women. The high BMD group comprised 326 women in whom lumbar spine BMD values adjusted for age, height, and weight were in the highest 16% of the population distribution, and the low BMD group comprised 293 women in whom BMD values were in the lowest 16% of the population distribution. The distribution of genotypes and alleles for each Single Nucleotide Polymorphism (SNP) examined did not differ in the low and high BMD groups. We conclude that, in this population, common allelic variations in the SOST gene do not contribute significantly to the regulation of high or low BMD.

AB - Osteoporosis is a common disease characterized by a decrease in bone mass, architectural deterioration of the bone tissue, and an increased risk of fracture. The condition is under strong genetic control, involving a large variety of gene products, but to date the genes responsible remain poorly defined. Although population-based studies have identified polymorphisms in several candidate genes that are associated with bone mineral density (BMD), these account for only a small proportion of the population variance in bone mass. In this study, we looked for evidence of an allelic association between polymorphisms in the SOST gene and BMD. This gene was analyzed because loss-of-function mutations in SOST cause sclerosteosis, a sclerosing bone dysplasia associated with increased bone mass due to increased bone formation. We identified 26 different polymorphisms in the SOST gene and selected 5 of these for association analysis in a case-control study of 619 women with either high or low BMD, drawn from a random population-based survey of 5119 perimenopausal white women. The high BMD group comprised 326 women in whom lumbar spine BMD values adjusted for age, height, and weight were in the highest 16% of the population distribution, and the low BMD group comprised 293 women in whom BMD values were in the lowest 16% of the population distribution. The distribution of genotypes and alleles for each Single Nucleotide Polymorphism (SNP) examined did not differ in the low and high BMD groups. We conclude that, in this population, common allelic variations in the SOST gene do not contribute significantly to the regulation of high or low BMD.

KW - SOST

KW - polymorphisms bone mineral density (BMD)

KW - association study

KW - osteoporosis

KW - TRANSFORMING GROWTH-FACTOR-BETA-1 GENE

KW - AUTOSOMAL RECESSIVE OSTEOPETROSIS

KW - POSTMENOPAUSAL JAPANESE WOMEN

KW - CAMURATI-ENGELMANN-DISEASE

KW - REGIONAL OSTEOPOROSIS

KW - RECRUITMENT METHODS

KW - SCREENING PROGRAMS

KW - RECEPTOR GENE

KW - MASS

KW - PROTEIN

M3 - Article

VL - 31

SP - 515

EP - 519

JO - Bone

JF - Bone

SN - 8756-3282

ER -