Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal women

Bustamante, Mariona; Nogués, Xavier; Mellibovsky, Leonardo; Águeda, Lídia; Jurado, Susana Beatriz; Cáceres, Enrique Cerrillo Martín de; Blanch, Josep; Carreras, Ramón; Díez-Pérez, Adolfo; Grinberg, Daniel; Balcells, Susana

doi:10.1530/eje-07-0389

Cited by 46 publications

(41 citation statements)

References 44 publications

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“…Las alteraciones del sistema inmune en el envejecimiento, se manifiestan como incremento de los niveles circulantes de mediadores de la inflamación como las interleuquinas, agravando así patologías asociadas a la edad 51 . La mayoría de los reportes que relacionan niveles de IL6 y/o sus variantes genéticas con componentes del SM, se han llevado a cabo en adultos 21,28,39,48,52 . En este contexto, linfocitos B inmortalizados de adultos mayores (89 años promedio) portadores del alelo C de rs1800795 (promotor de IL6), producen significativamente más IL6 que linfocitos, también provenientes de portadores de este alelo, pero con 35 años de edad promedio 53 .…”

Section: Discussionunclassified

“…Todos los polimorfismos fueron genotipificados mediante reacción en cadena de la polimerasa seguida de análisis de fragmentos de restricción (PCR-RFLP) de acuerdo a protocolos previamente descritos 21,38,[44][45][46] .…”

Section: Genotipificación De Snps De Il6 Il6r E Il18unclassified

“…A estas moléculas podemos agregar el efecto de IL18 sobre la modulación de la ingesta y la acumulación de adiposidad demostrada en ratones deficientes del gen Il18 17 . Dada su relación con estados inflamatorios, los niveles de IL6, de su receptor soluble (IL6sR) y de interleuquina 18 (IL18) han sido correlacionados con obesidad, RI y DM2 [18][19][20][21][22][23] . Por lo tanto, es posible postular que los niveles de IL6, IL6sR e IL18 pueden estar relacionados con SM o alguno de sus componentes.…”

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“…Por su parte, los polimorfismos de la región promotora del gen IL18 (11q23.1), rs360719 (-1297T > C) y rs187238 (-137G > C) y la variante intrónica rs204355 (-5848T > C) han demostrado tener influencia sobre los niveles circulantes de IL18 [33][34][35] . Además, estos polimorfismos de IL6, IL6R e IL18 han sido asociados previamente tanto con SM como con sus componentes, en poblaciones de diferente origen étnico 21,30,[37][38][39][40] . En el caso de la población chilena, se reporta un estudio que asocia a rs2228145 con el índice de masa corporal (IMC) en mujeres con DM1 41 .…”

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Polimorfismos genéticos de interleuquina 6 (IL6), IL6R e IL18: asociación con componentes del síndrome metabólico en niños chilenos con obesidad

et al. 2014

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Section: Discussionunclassified

Section: Genotipificación De Snps De Il6 Il6r E Il18unclassified

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Polimorfismos genéticos de interleuquina 6 (IL6), IL6R e IL18: asociación con componentes del síndrome metabólico en niños chilenos con obesidad

et al. 2014

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“…Interestingly, the correlation between osteoporosis and obesity has been established both genetically and phenotypically [1][2][3][4] . In addition, genes associated with osteoporosis may also be candidates for obesity.…”

Section: Introductionmentioning

confidence: 99%

No association between LRP5 gene polymorphisms and bone and obesity phenotypes in Chinese male-offspring nuclear families

et al. 2010

Acta Pharmacol Sin

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Aim:To investigate the effect of low-density lipoprotein receptor-related protein 5 (LRP5) gene polymorphisms on bone and obesity phenotypes in young Chinese men. Methods: A total of 1244 subjects from 411 Chinese nuclear families were genotyped by using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique at the Q89R, N740N, and A1330V sites in the LRP5 gene. Bone mineral density (BMD) in the lumbar spine and the hip, total fat mass and total lean mass were measured using dual-energy X-ray absorptiometry. The association between LRP5 gene polymorphisms and peak BMD, body mass index (BMI), total fat mass, total lean mass and percentage of fat mass was assessed using a quantitative transmission disequilibrium test (QTDT). Results: No significant within-family associations were found between genotypes or haplotypes of the LRP5 gene and peak BMD, BMI, total fat mass, total lean mass and percentage of fat mass. The 1000 permutations that were subsequently simulated were in agreement with these within-family association results. Conclusion: Our results suggest that common polymorphic variations of the LRP5 gene do not influence peak bone mass acquisition and obesity phenotypes in young Chinese men.

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Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci

et al. 2022

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Osteoporosis is the most common bone disease, characterized by a low bone mineral density (BMD) and increased risk of fracture. At the other end of the BMD spectrum, some individuals present strong, fracture‐resistant, bones. Both osteoporosis and high BMD are heritable and their genetic architecture encompasses polygenic inheritance of common variants and some cases of monogenic highly penetrant variants in causal genes. We have investigated the genetics of high BMD in a family segregating this trait in an apparently Mendelian dominant pattern. We searched for rare causal variants by whole‐exome sequencing in three affected and three nonaffected family members. Using this approach, we have identified 38 rare coding variants present in the proband and absent in the three individuals with normal BMD. Although we have found four variants shared by the three affected members of the family, we have not been able to relate any of these to the high‐BMD phenotype. In contrast, we have identified missense variants in two genes, VAV3 and ADGRE5, each shared by two of out of three affected members, whose loss of function fits with the phenotype of the family. In particular, the proband, a woman displaying the highest BMD (sum Z‐score = 7), carries both variants, whereas the other two affected members carry one each. VAV3 encodes a guanine‐nucleotide‐exchange factor with an important role in osteoclast activation and function. Although no previous cases of VAV3 mutations have been reported in humans, Vav3 knockout (KO) mice display dense bones, similarly to the high‐BMD phenotype present in our family. The ADGRE5 gene encodes an adhesion G protein‐coupled receptor expressed in osteoclasts whose KO mouse displays increased trabecular bone volume. Combined, these mouse and human data highlight VAV3 and ADGRE5 as novel putative high‐BMD genes with additive effects, and potential therapeutic targets for osteoporosis. © 2022 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

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Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal women

Cited by 46 publications

References 44 publications

Polimorfismos genéticos de interleuquina 6 (IL6), IL6R e IL18: asociación con componentes del síndrome metabólico en niños chilenos con obesidad

Polimorfismos genéticos de interleuquina 6 (IL6), IL6R e IL18: asociación con componentes del síndrome metabólico en niños chilenos con obesidad

No association between LRP5 gene polymorphisms and bone and obesity phenotypes in Chinese male-offspring nuclear families

Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci

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