Allelic Variants of Human Calcitonin Receptor: Distribution and Association with Bone Mass in Postmenopausal Italian Women

Masi, Laura; Becherini, Lucia; Gennari, Luigi; Colli, Emanuela; Mansani, Riccardo; Falchetti, Alberto; Cepollaro, C.; Gonnelli, Stefano; Tanini, Annalisa; Brandi, Maria Luisa

doi:10.1006/bbrc.1998.8445

Cited by 49 publications

(36 citation statements)

References 23 publications

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“…Além disso, outros genes também foram associados ao metabolismo ósseo, como o da calcitonina, IGF-I, colágeno tipo I e II, genes da família dos "Transforming Growth Factors'' (TGF beta)," Fibroblast Growth Factor'" (FGF), interleucinas e osteoprotegerina (38)(39)(40)(41)(42)(43)(44)(45), que é um fator inibidor da osteoclastogênese.…”

Section: Genéticaunclassified

Fatores envolvidos no pico de massa óssea

Brandão

Vieira

1999

Arq Bras Endocrinol Metab

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A massa óssea de um indivíduo adulto, que está estreitamente relacionada ao risco de fraturas osteoporóticas, depende da diferença entre o pico de massa óssea alcançado no final do período de maturação sexual e esquelética, e as perdas acumuladas durante a vida. A enorme variabilidade observada no pico de massa óssea da adolescência está relacionada, principalmente, a fatores genéticos, mas também a parâmetros antropométricos, como peso e altura, hábitos dietéticas, influências hormonais diversas, atividade física, uso de medicamentos e doenças intercorrentes. A identificação dos fatores envolvidos na aquisição do pico de massa óssea na infância e adolescência e a compreensão deste longo período de maturação esquelética, permitirão a criação de estratégias para prevenção da osteoporose. (Arq Bras Endocrinol Metab 1999;43/6: 401-408) Unitermos: Pico de massa óssea; Densidade mineral óssea em crianças e adolescentes ABSTRACT Bone mass in the adult life, which is closely related to osteoporotic fracture risk, depends on the differences between the peak bone mass attained at the end of the sexual and skeletal maturation and the rate of involutional bone mass. The great variability in peak bone mass observed at adolescence is related not only to genetic factors, but also to diet, hormonal status, anthropometric variables, as weight and height, physical activity, drugs and intercurrent diseases. The identification of the factors involved with the acquisition of the peak bone mass and the comprehension of this long period of skeletal maturation will indicate strategies for prevention of osteoporosis. (Arq Bras Endocrinol Metab 1999;43/6: 401-408) Keywords: Peak bone mass; BMD in children and adolescents A INCIDÊNCIA DE FRATURAS OSTEOPORÓTICAS está estreitamente relacionada à massa óssea do indivíduo, que depende tanto da velocidade de perda durante a vida quanto da quantidade de tecido ósseo presente no final da puberdade e início da vida adulta. A enorme variância no pico de massa óssea é explicada não só por fatores hereditários, como também por sexo, raça, hábitos dietéticos, atividade física, influências hormonais diversas, composição corporal de massa magra e gordurosa, doenças intercorrentes, uso crônico de medicamentos. A compreensão do longo processo de maturação óssea que ocorre na infância e adolescência vai permitir identificar os fatores passíveis de alguma intervenção e a criação de estratégias para prevenção precoce da osteoporose. Se o ganho mineral ósseo puder ser otimizado durante a puberdade, é provável que o indivíduo adulto esteja menos susceptível a sofrer as devastadoras complicações da osteoporose.

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Section: Genéticaunclassified

Fatores envolvidos no pico de massa óssea

Brandão

Vieira

1999

Arq Bras Endocrinol Metab

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“…Population-based association studies have suggested that genetic effects can be ascribed to polymorphisms of a number of genes involved in bone metabolism, although the genetic basis of osteoporosis is not well understood. Polymorphisms of genes encoding vitamin D receptor (VDR), estrogen receptor (ER), collagen type I alpha (COL1A1), calcitonin receptor (CTR), osteocalcin, transforming growth factor-beta (TGF-beta), interleukin-1 receptor antagonist (IL-1RN), insulin-like growth factor-I (IGF-I), calcitonin receptor (CTR), parathyroid hormone (PTH), peroxisome proliferator-activated receptor gamma (PPAR gamma), calcitonin (CT), and interleukin-6 (IL6) have all been implicated as genetic markers for BMD (Morrison et al 1994;Sano et al 1995;Grant et al 1996;Dohi et al 1998;Keen et al 1998;Masi et al 1998;Miyao et al 1998;Taboulet et al 1998;Yamada et al 1998;Hosoi et al 1999;Ogawa et al 1999;Tsukamoto et al 1999;Miyao et al 2000).…”

Section: Introductionmentioning

confidence: 99%

A nucleotide variant in the promoter region of the interleukin-6 gene associated with decreased bone mineral density

et al. 2001

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Interleukin-6 (IL6) has come to be regarded as a potential osteoporotic factor because it has stimulatory effects on cells of the osteoclast lineage, and, thus, may play a role in the pathogenesis of bone loss associated with estrogen deficiency. We previously described association of the IL6 microsatellite with bone mineral density (BMD), as well as genetic linkage of the IL6 locus to human osteoporosis, by means of sib-pair analysis. However, the molecular mechanism by which this locus regulates BMD remains unknown. Accordingly, we searched for polymorphisms in the 5Ј and 3Ј flanking regions and in all five exons of the IL6 gene in a Japanese population sample. We identified three single-nucleotide sequence variations: a C/G substitution at nucleotide (nt) Ϫ634 in the promoter region, a G/A substitution at nt 4391 in the 3Ј noncoding region, and a variation in the AnTn tract around nt Ϫ447. The last of these had already been observed in Caucasians, as well as in Japanese. The single-nucleotide polymorphism at Ϫ634 created a restriction site for the BsrBI endonuclease, and the frequency of the minor (G) allele was 0.184. Five haplotypes were constructed among three variations examined in the population. Linkage disequilibrium was observed between the variation at Ϫ634 and the variation at 4391, as well as between the variation at Ϫ634 and the AnTn tract variation. We found a significant correlation, in 470 subjects, between the presence of the G allele and decreased BMD, by analysis of variance. When BMD values were compared among the three genotypic groups (G/G, G/C, C/C) at nt Ϫ634, BMD was lowest among the G/G homozygotes (mean Ϯ SD; 0.284 Ϯ 0.062 g/cm 2 ), highest among the C/C homozygotes (0.314 Ϯ 0.059 g/cm 2 ), and intermediate among the heterozygotes (0.303 Ϯ 0.066 g/cm 2 ; P Ͻ 0.05).Given the several lines of evidence from different genetic studies, we suggest that IL6 is, indeed, one of the genes affecting bone metabolism, in which variations can lead to osteoporosis.

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“…The calcitonin receptor (CTR) is a 7–pass transmembrane G–protein–coupled receptor which reacts in response to the calcium metabolism–related hormone calcitonin [6]. The CTR gene is located on chromosome 7q21.3 and is currently used as a genetic marker for the prediction of bone density in menopausal women [7]. The frequent use of SNPs site for the detection was located at the 1377th nucleotide ( Alu I) polymorphism.…”

Section: Introductionmentioning

confidence: 99%