title: No association between hip geometry and four common polymorphisms associated with fracture: the Danish osteoporosis prevention study.
abstract: Both osteoporosis and hip geometry are independently associated with fracture risk. There is a significant genetic contribution to the risk of osteoporosis, and evidence provided by twin studies has suggested that hip geometry may also in part be genetically programmed. Polymorphisms in a number of genes, including those coding for methylene-tetrahydrofolate reductase (MTHFR c.677C > T), the purinergic P2X(7) receptor (Glu496Ala and Ile568Asn), and the low-density lipoprotein receptor-related protein 5 (LRP5 exon 9 [c.266A > G]), have been associated with an increased fracture incidence and/or reduced bone mineral density (BMD). The aim of the present study was to test whether these polymorphisms influence hip structural geometry in perimenopausal women. The four polymorphisms were genotyped in 800 healthy recently perimenopausal women never using hormone replacement therapy. BMD of the femoral neck was measured using a Hologic QDR-2000 densitometer and femoral neck axis length, neck width, neck shaft angle, and femoral head diameter were measured from the screen images. Genotype frequencies were compatible with Hardy-Weinberg equilibrium. No significant differences between homozygotes for the minor allele and carriers of the common allele regarding parameters of hip geometry were demonstrated. According to the anthropometric characteristics of the subjects, only body height in the MTHFR TT genotype group was significantly different from the combined CT/CC genotype group (P < 0.05). The geometric dimensions of the proximal femur in perimenopausal women are not associated with the MTHFR c.677C > T, P2X(7) (Glu496Ala), P2X(7) (Ile568Asn), and LRP5 exon 9 (c.266A > G) polymorphisms.
authors.affiliation: Department of Endocrinology, Odense University Hospital, University of Southern Denmark, Odense, 5000, Odense C, Denmark. hra@dadlnet.dk
authors.forename: N
authors.initials: N
authors.lastname: Nissen
authors.forename: J S
authors.initials: JS
authors.lastname: Madsen
authors.forename: E M
authors.initials: EM
authors.lastname: Bladbjerg
authors.forename: J E
authors.initials: JE
authors.lastname: Beck Jensen
authors.forename: N R
authors.initials: NR
authors.lastname: Jørgensen
authors.forename: B
authors.initials: B
authors.lastname: Langdahl
authors.forename: B
authors.initials: B
authors.lastname: Abrahamsen
authors.forename: K
authors.initials: K
authors.lastname: Brixen
mesh_terms: D000328:Adult; D000886:Anthropometry; D001837:Body Weights and Measures; D015519:Bone Density / Q000235:genetics; D003430:Cross-Sectional Studies; D003718:Denmark / Q000453:epidemiology; D005260:Female; D005265:Femoral Neck Fractures / Q000453:epidemiology / Q000209:etiology / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006615:Hip / Q000033:anatomy & histology*; D006620:Hip Fractures / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics; D006801:Humans; D026502:LDL-Receptor Related Proteins / Q000235:genetics*; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D015663:Osteoporosis, Postmenopausal / Q000150:complications*; D011110:Polymorphism, Genetic; D018048:Receptors, Purinergic P2 / Q000235:genetics*; D058486:Receptors, Purinergic P2X7; D018570:Risk Assessment
chemical_list: D026502:LDL-Receptor Related Proteins; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; C546468:P2RX7 protein, human; D018048:Receptors, Purinergic P2; D058486:Receptors, Purinergic P2X7; D042965:Methylenetetrahydrofolate Reductase (NADPH2)