Bone mineral density in young women of the city of São Paulo, Brazil: correlation with both collagen type I alpha 1 gene polymorphism and clinical aspects

β-Thalassemia major is an inherited blood disorder, which mainly affects the Mediterranean region. Osteoporosis represents an important cause of morbidity in β-thalassemia major and its pathogenesis has not been completely clarified. Genetic factors play an important role in the pathogenesis of osteoporosis and several candidate gene polymorphisms have been implicated in the regulation of this process. A G→T polymorphism in the regulatory region of the collagen type I alpha 1 (COLIAI) gene at a recognition site for transcription factor Sp1 has been strongly associated with osteoporosis. The aim of the present study was to examine the distribution of COLIAI polymorphism and its relationship with bone mineral density (BMD) at the lumbar spine and femur in patients and controls. In this study, the G→T polymorphism was detected in 31 Egyptian β-thalassemia major patients and 20 healthy controls and its possible association with BMD was investigated. Alleles S and s were detected by the presence of a G or T nucleotide, respectively, in a regulatory site of the COLIAI gene using polymerase chain reaction (PCR). A total of 80.6% of the β-thalassemia patients were homozygous for G/G (SS) and 19.4% were heterozygotes for G/T (Ss) polymorphism. There was no ss genotype in our patients. In the control group, 70 and 30% had SS and Ss genotypes, respectively. There was no significant difference between Z-score of patients with SS and Ss at head of femur (P = 1) or at lumbar spine (P = 0.48). Conclusion Our results raise the possibility that genotyping at the Sp1 site could be of clinical value in identifying the thalassemic patients at risk of developing osteoporosis.

show abstract

“…A similar finding was reported by Guzeloglu-Kayisli et al [13], Barros et al [17] and Berg et al [28].…”

Section: Discussionsupporting

confidence: 89%

“…We studied a G!T polymorphism at the first base of a binding site for the transcription factor Sp1 in the first intron of the COLIAI gene by polymerase chain reaction (PCR)-based method described by Barros et al, [17] resulting in 264 bp fragment of regulatory region of COLIAI gene.…”

Section: Dna Analysismentioning

confidence: 99%

An SP1-binding site polymorphism in the COLIAI gene and osteoporosis in Egyptian patients with thalassemia major

Hamed

Galal²,

Ghamrawy³

et al. 2011

Blood Coagulation &Amp; Fibrinolysis

View full text Add to dashboard Cite

show abstract

“…8 Earlier studies reported lower hip fracture rates in Latin America than in U.S. or European whites. [9][10][11][12] However, the number of women at risk of osteoporosis and hip fracture is increasing in Latin America. The number of hip fractures for women and men aged 50-64 in Latin America will increase by 400%, while in ages 65 and over the increase will be a staggering 700% in 2050 as compared to the prevalence in 1950.…”

mentioning

confidence: 99%

A risk assessment tool (OsteoRisk) for identifying latin American women with osteoporosis

et al. 2005

View full text Add to dashboard Cite

OBJECTIVE: To develop a simple and easy-to-use tool for identifying osteoporotic women (femoral neck bone mineral density [BMD] Tscores À 2.5) in Latin America. DESIGN:Retrospective study involving review of medical records.SETTING: Osteoporosis clinics in 6 Latin American countries. PATIENTS:Postmenopausal women ages ! 50 in Latin America who had femoral neck BMD measurements. MEASUREMENTS AND MAIN RESULTS:A risk index was developed from 1,547 patients based on least square regression using age, weight, history of fractures, and other variables as predictors for BMD T-score. The final model was simplified by reducing the number of predictors; sensitivity and specificity were evaluated before and after reducing the number of predictors to assess performance of the index. The final model included age, weight, country, estrogen use, and history of fractures as significant predictors for T-score. The resulting scoring index achieved 91% sensitivity and 47% specificity. Simplifying the index by using only age and weight yielded similar performance (sensitivity, 92%; specificity, 45%). Three risk categories were identified based on OsteoRisk, the index using only age and body weight: high-risk patients (index o =À 2; 65.6% were osteoporotic), moderate-risk patients ( À 2o index o =1; 26.7% were osteoporotic), and low-risk patients (index41; 8% were osteoporotic). Similar results were seen in a validation sample of 279 women in Brazil.CONCLUSION: Age and weight alone performed well for predicting the risk of osteoporosis among postmenopausal women. The OsteoRisk is an easy-to-use tool that effectively targets the vast majority of osteoporotic patients in Latin America for evaluation with BMD. Although patients with fracture should automatically be considered for treatment for osteoporosis, and assessment of bone mineral density (BMD) using dual energy x-ray absorptiometry (DXA) is the standard for diagnosing osteoporosis prior to fracture, facilities for DXA measurements remain limited in Latin America and certain other parts of the world, and this poses a serious challenge for diagnosing osteoporosis in patients without prior fracture.Some researchers have examined the relationship between clinical variables and bone mass in the hope of targeting BMD measurements to patients who are more likely to have osteoporosis.14-20 Lydick et al. 17 developed a model that accurately identifies 90% of subjects with low bone mass and 40% of subjects with normal bone mass. Recently, Koh et al. 18 developed an index, the Osteoporosis Self-assessment Tool for Asians (OSTA), for identifying women at increased risk of osteoporosis in a population of Asian patients other than Japanese. The OSTA is based only on age and weight and achieved a sensitivity of 91% for identifying women with osteoporosis; it was further validated in a cohort of Japanese women, with a sensitivity of 98%. 19 The Osteoporosis Self-assessment Tool (OST) was derived from the OSTA by altering the risk category ranges, and performed well in identifying women at...

show abstract

“…This fact is directly related to the increased production of sex hormones, particularly the already mentioned action of estrogen on osteoclast activity 21 . In addition, considering lumbar spine and femoral neck BMD values of 1.200 (g/cm²) and 0.965 (g/cm²) 23 during peak bone mass, postpubertal adolescent girls already reached approximately 90% and 109% of the expected values, respectively. Longitudinal studies also reported that 90% to 100% of peak bone mass is acquired at the end of adolescence 5,6 .…”

Section: Discussionmentioning

confidence: 97%

Conteúdo e densidade mineral óssea de adolescentes do sexo feminino. DOI: 10.5007/1980-0037.2011v13n5p354

Fonseca

Pereira

França

2011

Rev. Bras. Cineantropom. Desempenho Hum.

View full text Add to dashboard Cite

-The aim of the present study was to characterize bone mineral density (BMD) and content (BMC) in Brazilian adolescent girls according to age and pubertal stage. A total of 329 girls ranging in age from 10 to 20 years participated in this study. Body weight, height, body mass index, pubertal stage, race, daily calcium intake, and time spent per week performing moderate-to vigorous-intensity physical activity (MVPA) were evaluated. Lumbar spine and femoral neck BMD and BMC were assessed by dual-energy x-ray absorptiometry. One-way ANOVA with Tukey post-hoc test was used to identify differences in bone mass between ages and pubertal stages (p≤0.05). The daily calcium intake reported by the adolescents was inadequate, corresponding to only 26-47% of the recommended allowance (1,300 mg/day). On the other hand, weekly MVPA was higher than that recommended for adolescents. Significant differences in BMD and BMC were observed for girls aged 10-14 years. In addition, lumbar spine and femoral neck BMD was 58 and 31% higher in postpubertal girls, respectively, when compared to prepubertal adolescents. Key words: Bone mineral density; Bone mineral content; Adolescents; Puberty. Resumo -O presente estudo teve como objetivo caracterizar o conteúdo mineral ósseo (CMO) e a densidade mineral óssea (DMO) de adolescentes do sexo feminino de acordo com a faixa etária e o estágio de maturação sexual. A amostra desse estudo foi composta por 329 meninas com idades entre 10 e 20 anos. Foram avaliados o peso corporal, estatura, índice de massa corporal, estágio de maturação sexual, a raça, o consumo diário de cálcio e o tempo dispendido em atividades físicas de intensidades moderada a vigorosa por semana (AFMV

show abstract

Bone mineral density in young women of the city of São Paulo, Brazil: correlation with both collagen type I alpha 1 gene polymorphism and clinical aspects

Cited by 15 publications

References 34 publications

An SP1-binding site polymorphism in the COLIAI gene and osteoporosis in Egyptian patients with thalassemia major

An SP1-binding site polymorphism in the COLIAI gene and osteoporosis in Egyptian patients with thalassemia major

A risk assessment tool (OsteoRisk) for identifying latin American women with osteoporosis

Conteúdo e densidade mineral óssea de adolescentes do sexo feminino. DOI: 10.5007/1980-0037.2011v13n5p354

Contact Info

Product

Resources

About