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      Hip Fracture Risk and Different Gene Polymorphisms in the Turkish Population

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          Abstract

          BACKGROUND

          We aimed to discuss the risk assessments for both patients with hip fractures due to fall-related, low energy traumas and non-fractured control patients by examining bone mineral density and genetic data, two features associated with femoral strength and hip fracture risk.

          METHODS

          Twenty-one osteoporotic patients with proximal femur fractures and non-fractured, osteoporotic, age- and gender-matched controls were included in the study. Bone mineral density measurements were performed with a Lunar DXA. The COL1A1, ESR, VDR, IL-6, and OPG genes were amplified, and labeling of specific gene sequences was performed in a multiplex polymerase chain reaction using the osteo/check PCR kit from the whole blood of all subjects.

          RESULTS

          The bone mineral density (trochanteric and total bone mineral density values) of the fracture group was significantly decreased relative to the control group. We were not able to conduct statistical tests for the polymorphisms of the COL1A1, ESR, and VDR genes because our results were expressed in terms of frequency. Although they were not significant, we did examine differences in the IL-6 and OPG genes polymorphisms between the two groups. We concluded that increasing the number of cases will allow us to evaluate racial differences in femoral hip fracture risk by genotypes.

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          A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality.

          Harlan Robins, Richard Aspden, Katherine S. Ralston … (2001)
          Osteoporosis is a common disease with a strong genetic component. We previously described a polymorphic Sp1 binding site in the COL1A1 gene that has been associated with osteoporosis in several populations. Here we explore the molecular mechanisms underlying this association. A meta-analysis showed significant associations between COL1A1 "s" alleles and bone mineral density (BMD), body mass index (BMI), and osteoporotic fractures. The association with fracture was stronger than expected on the basis of the observed differences in BMD and BMI, suggesting an additional effect on bone strength. Gel shift assays showed increased binding affinity of the "s" allele for Sp1 protein, and primary RNA transcripts derived from the "s" allele were approximately three times more abundant than "S" allele--derived transcripts in "Ss" heterozygotes. Collagen produced from osteoblasts cultured from "Ss" heterozygotes had an increased ratio of alpha 1(I) protein relative to alpha 2(I), and this was accompanied by an increased ratio of COL1A1 mRNA relative to COL1A2. Finally, the yield strength of bone derived from "Ss" individuals was reduced when compared with bone derived from "SS" subjects. We conclude that the COL1A1 Sp1 polymorphism is a functional genetic variant that predisposes to osteoporosis by complex mechanisms involving changes in bone mass and bone quality.
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            Estrogen receptor gene polymorphisms and the genetics of osteoporosis: a HuGE review.

            L Gennari, D Merlotti, G Martini … (2005)
            Osteoporosis (OMIM166710) is a common skeletal disorder characterized by low bone mass and microarchitectural deterioration of bone tissue with increased susceptibility to fracture. Osteoporosis has a complex etiology and is considered a multifactorial polygenic disease in which genetic determinants are modulated by hormonal, environmental, and nutritional factors. Estrogens are known to play an important role in regulating bone homeostasis and preventing postmenopausal bone loss. They act through binding to two different estrogen receptors (ERs), ER alpha (OMIM133430) and ER beta (OMIM601663), which are members of the nuclear receptor superfamily of ligand-activated transcription factors. Different polymorphisms have been described in both the ER alpha and ER beta genes. Although a large number of association studies have been performed, the individual contribution of these polymorphisms to the pathogenesis of osteoporosis remains to be universally confirmed. Moreover, an important aim in future work will be to define their functional molecular consequences and their interaction with the environment in the causation of the osteoporotic phenotype. A further promising application of these polymorphisms comes from their pharmacogenomic implications, with the possibility of providing better guidance for therapeutic regimens, such as estrogen replacement therapy and selective ER modulators. At the moment, no recommendations for population-based screening can be made.
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              Assessment of the strength of proximal femur in vitro: relationship to femoral bone mineral density and femoral geometry.

              X.G. Cheng, G Lowet, S. Boonen … (1997)
              Femoral neck axis length, neck width, and neck-shaft angle were measured on radiographs of right proximal femora from 64 cadavers (28 female, 36 male). Bone mineral density (BMD) was measured using dual energy X-ray absorptiometry (DXA) for various regions of interest, and quantitative computed tomography (QCT) was used to determine BMD and bone areas for cortical and trabecular bone at the trochanter and femoral neck. The strength of the femur was determined by a mechanical test simulating a fall on the greater trochanter, and the fracture type (cervical or trochanteric) was subsequently determined from radiographs. Twenty-six cervical fractures and 38 trochanteric fractures were observed, with no significant sex difference in the distribution of fracture types. Femoral strength was significantly elevated in males compared to females. DXA trochanteric BMD was more strongly (p < 0.05) correlated with femoral strength (r2 = 0.88) than were any of the other DXA BMD measurements (r2 = 0.59-0.76). In multiple regression models, a combination of different DXA BMD measurements produced only a small increase (1%) in the explained variability of femoral strength. Of the QCT measurements, trochanteric cortical area yielded the optimal correlation with femoral strength (r2 = 0.83). Weak, but significant, correlations were observed between femoral strength and cortical BMD at trochanteric (r2 = 0.28) and neck regions (r2 = 0.07). In multiple regression models, combining QCT parameters yielded, at best, an r2 of 0.87. Of the geometrical parameters, both neck axis length and neck width were significantly correlated with femoral strength (r2 = 0.24, 0.22, respectively), but no significant correlation was found between strength and the neck-shaft angle. Combining DXA trochanteric BMD with femoral neck width resulted in only a small increase in the explained variability (1%) compared to trochanteric BMD alone. The results demonstrated that DXA and QCT had a similar ability to predict femoral strength in vitro. Trochanteric BMD was the best DXA parameter, and cortical area (not cortical BMD) was the optimal QCT parameter. Geometric measurements of the proximal femur were only weakly correlated with the mechanical strength, and combinations of DXA, QCT, and geometric parameters resulted in only small increases in predictive power compared to the use of a single explanatory variable alone.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Clinics
                Title: Clinics (Sao Paulo, Brazil)
                Publisher: Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
                ISSN (Print): 1807-5932
                ISSN (Electronic): 1980-5322
                Publication date (Print): October 2008
                Volume: 63
                Issue: 5
                Pages: 645-650
                Affiliations
                [I ] Department of Orthopedics and Traumatology, Ankara Training and Research Hospital - Ankara, Turkey
                [II ] Department of Medical Biochemistry, Gazi University Faculty of Medicine - Ankara, Turkey
                [III ] Department of Physical Rehabilitation and Medicine, Gazi University Faculty of Medicine - Ankara, Turkey. Phone: +90 3122667051, Email: veyed@ 123456yahoo.com
                Article
                Publisher ID: cln63_5p0645
                DOI: 10.1590/S1807-59322008000500013
                PMC ID: 2664723
                PubMed ID: 18925325
                SO-VID: 9a2866ae-2fde-4507-8966-5ec4b008fdda
                Copyright © Copyright © 2008 Hospital das Clínicas da FMUSP
                History
                Date received : 23 April 2008
                Date accepted : 16 July 2008
                Categories
                Subject: Research

                ScienceOpen disciplines: Medicine
                Keywords: osteoporosis,gene polymorphism,hip fractures risk
                Data availability:
                ScienceOpen disciplines: Medicine
                Keywords: osteoporosis, gene polymorphism, hip fractures risk

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