title: Polymorphisms and haplotypes of integrinalpha1 (ITGA1) are associated with bone mineral density and fracture risk in postmenopausal Koreans.
abstract: BACKGROUND
  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.
authors.affiliation: Center for Genome Science, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul, 122-701, Republic of Korea.
authors.forename: Hye-Ja
authors.initials: HJ
authors.lastname: Lee
authors.forename: Shin-Yoon
authors.initials: SY
authors.lastname: Kim
authors.forename: Jung-Min
authors.initials: JM
authors.lastname: Koh
authors.forename: Jung
authors.initials: J
authors.lastname: Bok
authors.forename: Kwang-Joong
authors.initials: KJ
authors.lastname: Kim
authors.forename: Kyung-Seon
authors.initials: KS
authors.lastname: Kim
authors.forename: Mi-Hyun
authors.initials: MH
authors.lastname: Park
authors.forename: Hyoung-Doo
authors.initials: HD
authors.lastname: Shin
authors.forename: Byung Lae
authors.initials: BL
authors.lastname: Park
authors.forename: Tae-Ho
authors.initials: TH
authors.lastname: Kim
authors.forename: Jung Min
authors.initials: JM
authors.lastname: Hong
authors.forename: Eui Kyun
authors.initials: EK
authors.lastname: Park
authors.forename: Duk Jae
authors.initials: DJ
authors.lastname: Kim
authors.forename: Bermseok
authors.initials: B
authors.lastname: Oh
authors.forename: Kuchan
authors.initials: K
authors.lastname: Kimm
authors.forename: Ghi Su
authors.initials: GS
authors.lastname: Kim
authors.forename: Jong-Young
authors.initials: JY
authors.lastname: Lee
mesh_terms: D015519:Bone Density / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D005260:Female; D050723:Fractures, Bone / Q000453:epidemiology* / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D039423:Integrin alpha1 / Q000235:genetics*; D007723:Korea / Q000453:epidemiology; D008875:Middle Aged; D015663:Osteoporosis, Postmenopausal / Q000453:epidemiology* / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors
chemical_list: D039423:Integrin alpha1