Relation of JAGGED 1 and collagen type 1 alpha 1 polymorphisms with bone mineral density in Chinese postmenopausal women.
Osteoporosis is a complex disease characterized by low bone mineral density (BMD), which is determined by an interaction of genetics and environmental factors. Collagen type alpha 1 (COL1A) and JAGGED (JAG1) genes have been implicated in relation to BMD. The aim of this study was to investigate possible association among BMD and rs2273061 of JAG1, rs1107946 and rs1800012 of Col1A1 polymorphisms, as well as their haplotypes with BMD in postmenopausal Chinese women. A structured questionnaire for risk factors was recorded and BMD in lumbar spine and total hip was measured by dual-energy X-ray absorptiomety. Genomic DNA was obtained from 367 postmenopausal Chinese women. Genomic DNA was extracted from EDTA-preserved peripheral venous blood by phenol-chloroform extraction method and analyzed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). As a result, the rs1800012 polymorphism of COL1A1 showed an association with BMD of the lumbar spine under a dominant model. Besides, haplotype analysis of COL1A1 gene showed that G-G haplotype presented higher BMD in lumbar spine. No significant association between genotypes and alleles distributions of the rs1107946 polymorphism of COL1A1 and rs2273061 polymorphism of the JAG1 was found. In conclusion, our results suggest that the rs1800012 polymorphism of the COL1A1 and one haplotype were significantly associated with lumbar spine BMD variations in Chinese postmenopausal women.
Department of Gynecology of Affiliated, Hospital, Weifang Medical University 2428 Yuhelu, Weifang, Shandong Province, P. R. China.
Li-Qin
LQ
Zhang
Department of Gynecology of Affiliated, Hospital, Weifang Medical University 2428 Yuhelu, Weifang, Shandong Province, P. R. China.
Hua
H
Liu
Orthopaedics Institute, 89 Hospital of PLA 3770 Beigongxijie, Weifang, Shandong Province, P. R. China.
Xian-Feng
XF
Huang
D015502:Absorptiometry, Photon; D000367:Age Factors; D000368:Aged; D044466:Asian People / Q000235:genetics*; D015519:Bone Density / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002681:China / Q000453:epidemiology; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D000072100:Jagged-1 Protein; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging / Q000503:physiopathology*; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D015663:Osteoporosis, Postmenopausal / Q000000981:diagnostic imaging / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D011110:Polymorphism, Genetic; D017698:Postmenopause / Q000208:ethnology / Q000235:genetics*; D000072099:Serrate-Jagged Proteins; D012737:Sex Factors
D002135:Calcium-Binding Proteins; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D000072099:Serrate-Jagged Proteins
Bone mineral density; COL1A1; Chinese postmenopausal women; JAG1; haplotypes; polymorphism