Polymorphisms and haplotypes of integrinα1 (ITGA1) are associated with bone mineral density and fracture risk in postmenopausal Koreans

Hye Ja Lee; Shin Yoon Kim; Jung Min Koh; Jung Bok; Kwang Joong Kim; Kyung Seon Kim; Mi Hyun Park; Hyoung Doo Shin; Byung Lae Park; Tae Ho Kim; Jung Min Hong; Eui Kyun Park; Duk Jae Kim; Bermseok Oh; Kuchan Kimm; Ghi Su Kim; Jong Young Lee

doi:10.1016/j.bone.2007.08.034

Polymorphisms and haplotypes of integrinα1 (ITGA1) are associated with bone mineral density and fracture risk in postmenopausal Koreans

Hye Ja Lee, Shin Yoon Kim, Jung Min Koh, Jung Bok, Kwang Joong Kim, Kyung Seon Kim, Mi Hyun Park, Hyoung Doo Shin, Byung Lae Park, Tae Ho Kim, Jung Min Hong, Eui Kyun Park, Duk Jae Kim, Bermseok Oh, Kuchan Kimm, Ghi Su Kim, Jong Young Lee

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23 Citations (Scopus)

Abstract

Introduction: ITGA1 is involved in the early remodeling of osteoarthritic cartilage and plays an essential role in the regulation of mesenchymal stem cell proliferation and cartilage production. We investigated the association between bone parameters and ITGA1 polymorphisms and their haplotype linkage disequilibrium (LD) blocks (BL_hts). Genetic susceptibility to osteoporosis was studied in 946 postmenopausal Korean women. Methods: We identified 67 genetic polymorphisms in ITGA1 region by direct sequencing (n = 114). Eight SNPs were genotyped to further investigate their potential involvement in osteoporosis in postmenopausal women (n = 946). Areal BMD of the lumbar spine and proximal femur was measured using dual-energy X-ray absorptiometry. Results: The SNPs, + 73187C > T (exon 3) and + 76969T > G (intron 5), and their BL_hts were associated with bone mineral density (BMD) at various femur sites (p = 0.009-0.05). Moreover, + 159174A > C (intron 28) and its haplotype BL3_ht1 showed a highly significant association with risk of non-vertebral fracture (p = 0.002-0.005) and the minor allele of + 159174A > C showed a protective effect. Conclusions: These results are suggestive of the association of ITGA1 with osteoporosis and related risk in postmenopausal women.

Original language	English
Pages (from-to)	979-986
Number of pages	8
Journal	Bone
Volume	41
Issue number	6
DOIs	https://doi.org/10.1016/j.bone.2007.08.034
Publication status	Published - Dec 2007

Bibliographical note

Funding Information:
This work was supported by intramural grants from the Korea National Institute of Health, Korea Center for Disease Control, Republic of Korea (Project No.: 347-6111-211) and a grant from the Korea Health 21 R&D Project, Ministry of Health & Welfare, Republic of Korea (Project No.: 01-PJ3-PG6-01GN11-0002).

Keywords

Bone mineral density
Fracture
Haplotype LD
ITGA1
Postmenopause

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.bone.2007.08.034

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Lee, H. J., Kim, S. Y., Koh, J. M., Bok, J., Kim, K. J., Kim, K. S., Park, M. H., Shin, H. D., Park, B. L., Kim, T. H., Hong, J. M., Park, E. K., Kim, D. J., Oh, B., Kimm, K., Kim, G. S., & Lee, J. Y. (2007). Polymorphisms and haplotypes of integrinα1 (ITGA1) are associated with bone mineral density and fracture risk in postmenopausal Koreans. Bone, 41(6), 979-986. https://doi.org/10.1016/j.bone.2007.08.034

@article{d5fd1173ae044e7da2e95aac5d23b0fe,

title = "Polymorphisms and haplotypes of integrinα1 (ITGA1) are associated with bone mineral density and fracture risk in postmenopausal Koreans",

abstract = "Introduction: ITGA1 is involved in the early remodeling of osteoarthritic cartilage and plays an essential role in the regulation of mesenchymal stem cell proliferation and cartilage production. We investigated the association between bone parameters and ITGA1 polymorphisms and their haplotype linkage disequilibrium (LD) blocks (BL_hts). Genetic susceptibility to osteoporosis was studied in 946 postmenopausal Korean women. Methods: We identified 67 genetic polymorphisms in ITGA1 region by direct sequencing (n = 114). Eight SNPs were genotyped to further investigate their potential involvement in osteoporosis in postmenopausal women (n = 946). Areal BMD of the lumbar spine and proximal femur was measured using dual-energy X-ray absorptiometry. Results: The SNPs, + 73187C > T (exon 3) and + 76969T > G (intron 5), and their BL_hts were associated with bone mineral density (BMD) at various femur sites (p = 0.009-0.05). Moreover, + 159174A > C (intron 28) and its haplotype BL3_ht1 showed a highly significant association with risk of non-vertebral fracture (p = 0.002-0.005) and the minor allele of + 159174A > C showed a protective effect. Conclusions: These results are suggestive of the association of ITGA1 with osteoporosis and related risk in postmenopausal women.",

keywords = "Bone mineral density, Fracture, Haplotype LD, ITGA1, Postmenopause",

author = "Lee, {Hye Ja} and Kim, {Shin Yoon} and Koh, {Jung Min} and Jung Bok and Kim, {Kwang Joong} and Kim, {Kyung Seon} and Park, {Mi Hyun} and Shin, {Hyoung Doo} and Park, {Byung Lae} and Kim, {Tae Ho} and Hong, {Jung Min} and Park, {Eui Kyun} and Kim, {Duk Jae} and Bermseok Oh and Kuchan Kimm and Kim, {Ghi Su} and Lee, {Jong Young}",

note = "Funding Information: This work was supported by intramural grants from the Korea National Institute of Health, Korea Center for Disease Control, Republic of Korea (Project No.: 347-6111-211) and a grant from the Korea Health 21 R&D Project, Ministry of Health & Welfare, Republic of Korea (Project No.: 01-PJ3-PG6-01GN11-0002). ",

year = "2007",

month = dec,

doi = "10.1016/j.bone.2007.08.034",

language = "English",

volume = "41",

pages = "979--986",

journal = "Bone",

issn = "8756-3282",

publisher = "Elsevier Inc.",

number = "6",

}

Lee, HJ, Kim, SY, Koh, JM, Bok, J, Kim, KJ, Kim, KS, Park, MH, Shin, HD, Park, BL, Kim, TH, Hong, JM, Park, EK, Kim, DJ, Oh, B, Kimm, K, Kim, GS & Lee, JY 2007, 'Polymorphisms and haplotypes of integrinα1 (ITGA1) are associated with bone mineral density and fracture risk in postmenopausal Koreans', Bone, vol. 41, no. 6, pp. 979-986. https://doi.org/10.1016/j.bone.2007.08.034

TY - JOUR

T1 - Polymorphisms and haplotypes of integrinα1 (ITGA1) are associated with bone mineral density and fracture risk in postmenopausal Koreans

AU - Lee, Hye Ja

AU - Kim, Shin Yoon

AU - Koh, Jung Min

AU - Bok, Jung

AU - Kim, Kwang Joong

AU - Kim, Kyung Seon

AU - Park, Mi Hyun

AU - Shin, Hyoung Doo

AU - Park, Byung Lae

AU - Kim, Tae Ho

AU - Hong, Jung Min

AU - Park, Eui Kyun

AU - Kim, Duk Jae

AU - Oh, Bermseok

AU - Kimm, Kuchan

AU - Kim, Ghi Su

AU - Lee, Jong Young

N1 - Funding Information: This work was supported by intramural grants from the Korea National Institute of Health, Korea Center for Disease Control, Republic of Korea (Project No.: 347-6111-211) and a grant from the Korea Health 21 R&D Project, Ministry of Health & Welfare, Republic of Korea (Project No.: 01-PJ3-PG6-01GN11-0002).

PY - 2007/12

Y1 - 2007/12

N2 - Introduction: ITGA1 is involved in the early remodeling of osteoarthritic cartilage and plays an essential role in the regulation of mesenchymal stem cell proliferation and cartilage production. We investigated the association between bone parameters and ITGA1 polymorphisms and their haplotype linkage disequilibrium (LD) blocks (BL_hts). Genetic susceptibility to osteoporosis was studied in 946 postmenopausal Korean women. Methods: We identified 67 genetic polymorphisms in ITGA1 region by direct sequencing (n = 114). Eight SNPs were genotyped to further investigate their potential involvement in osteoporosis in postmenopausal women (n = 946). Areal BMD of the lumbar spine and proximal femur was measured using dual-energy X-ray absorptiometry. Results: The SNPs, + 73187C > T (exon 3) and + 76969T > G (intron 5), and their BL_hts were associated with bone mineral density (BMD) at various femur sites (p = 0.009-0.05). Moreover, + 159174A > C (intron 28) and its haplotype BL3_ht1 showed a highly significant association with risk of non-vertebral fracture (p = 0.002-0.005) and the minor allele of + 159174A > C showed a protective effect. Conclusions: These results are suggestive of the association of ITGA1 with osteoporosis and related risk in postmenopausal women.

AB - Introduction: ITGA1 is involved in the early remodeling of osteoarthritic cartilage and plays an essential role in the regulation of mesenchymal stem cell proliferation and cartilage production. We investigated the association between bone parameters and ITGA1 polymorphisms and their haplotype linkage disequilibrium (LD) blocks (BL_hts). Genetic susceptibility to osteoporosis was studied in 946 postmenopausal Korean women. Methods: We identified 67 genetic polymorphisms in ITGA1 region by direct sequencing (n = 114). Eight SNPs were genotyped to further investigate their potential involvement in osteoporosis in postmenopausal women (n = 946). Areal BMD of the lumbar spine and proximal femur was measured using dual-energy X-ray absorptiometry. Results: The SNPs, + 73187C > T (exon 3) and + 76969T > G (intron 5), and their BL_hts were associated with bone mineral density (BMD) at various femur sites (p = 0.009-0.05). Moreover, + 159174A > C (intron 28) and its haplotype BL3_ht1 showed a highly significant association with risk of non-vertebral fracture (p = 0.002-0.005) and the minor allele of + 159174A > C showed a protective effect. Conclusions: These results are suggestive of the association of ITGA1 with osteoporosis and related risk in postmenopausal women.

KW - Bone mineral density

KW - Fracture

KW - Haplotype LD

KW - ITGA1

KW - Postmenopause

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U2 - 10.1016/j.bone.2007.08.034

DO - 10.1016/j.bone.2007.08.034

M3 - Article

C2 - 17931993

AN - SCOPUS:36248987334

SN - 8756-3282

VL - 41

SP - 979

EP - 986

JO - Bone

JF - Bone

IS - 6

ER -

Polymorphisms and haplotypes of integrinα1 (ITGA1) are associated with bone mineral density and fracture risk in postmenopausal Koreans

Abstract

Bibliographical note

Keywords

UN SDGs

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