Frequencies of interleukin-6, GST and progesterone receptor gene polymorphisms in postmenopausal women with low bone mineral density

Abstract

CONTEXT AND OBJECTIVE: Osteoporosis is a skeletal disorder characterized by low bone mineral density (BMD). Studies have shown that some of the genetic components relating to lower BMD may be detected by polymorphisms. Our aim was to evaluate the frequencies of interleukin-6, GST and progesterone receptor gene polymorphisms in postmenopausal women with low BMD. DESIGN AND SETTING: Cross-sectional study, conducted in a public university in São Paulo, Brazil. METHODS:We evaluated interleukin-6 (IL-6), progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) polymorphisms in 110 postmenopausal women with no previous use of hormone therapy. Tests were performed using DNA-PCR, from oral scrapings. We used Student's t-test and a logistic regression model for statistical analysis. RESULTS: Regarding IL-6 polymorphism, 58.2% of the patients were homozygotes (GG) and 41.8% had allele C (heterozygote or mutant homozygote + GC or CC). PROGINS genotype polymorphism was absent in 79% (wild homozygote or P1/P1) and present in 20.9% (heterozygote or P1/P2). Regarding GSTM1 polymorphism, the allele (1/1) was present in 72.7% of the patients and was absent in 27.3%. We found that IL-6 polymorphism had statistically significant correlations with the L2-L4 T-score (P = 0.032) and with BMD (P = 0.005). Women with IL-6 polymorphism were 2.3 times more likely to have a L2-L4 T-score of less than -1, compared with those not presenting this polymorphism. CONCLUSION: IL-6 gene polymorphism was correlated with low BMD, whereas the PROGINS and GSTM1 polymorphisms did not show any correlation. RESUMO CONTEXTO E OBJETIVO:A osteoporose é uma desordem esquelética caracterizada por baixa densidade mineral óssea. Estudos têm demonstrado que alguns componentes genéticos relacionados com a menor densidade mineral óssea podem ser detectados por polimorfismos. Nosso objetivo foi avaliar a presença do polimorfismo de genes em mulheres pós-menopáusicas com baixa densidade mineral óssea. TIPO DE ESTUDO E LOCAL: Estudo transversal, conduzido em universidade pública em São Paulo, Brasil. MÉTODOS: Avaliamos os polimorfismos relacionados à interleucina-6 (IL-6), o gene receptor de progesterona (PROGINS) e glutationa S-transferase (GST) em 110 mulheres na pós-menopausa sem terapia hormonal prévia. Os testes foram realizados com DNA-PCR a partir de raspados orais. Foram utilizados teste t de Student e modelo de regressão logística para análise estatística. RESULTADOS: Em relação ao polimorfismo IL-6, 58,2% dos pacientes eram homozigotos (GG) e 41,8% tinham o alelo C (heterozigoto ou homozigoto mutante + GC ou CC). Nos genótipos do polimorfismo PROGINS, 79% estavam ausentes (homozigoto selvagem ou P1/P1) e 20,9% presentes (heterozigoto ou P1/P2). No polimorfismo do GSTM1, o alelo (1/1) estava presente em 72,7% dos pacientes e ausente em 27,3%. Encontramos significância estatística entre o polimorfismo genético da IL-6 com o T-score de L2-L4 (P = 0,032) e a densidade mineral óssea (P = 0,005). As mulheres com polimorfismo da IL-6 tiver...

Gene of the month: Interleukin 6 (IL-6)

“…Two phenotypes for this polymorphism have been identified: the 174 G/G and 174 G/C genotypes as the high-producer phenotype; and the 174 C/C genotype as the low-producer phenotype 10 12. The 174 G/C phenotype has been reported to be associated with the diseases with inflammatory background such as juvenile chronic arthritis,10 Alzheimer disease,13 type 2 diabetes,14 atherosclerosis,15 osteoporosis,16 cardiovascular diseases,17 18 and also multiple cancers including hepatocellular,19 colorectal,20 prostate,21 ovarian22 and breast cancer23 as well as Hodgkin's lymphoma24 and neuroblastoma 25…”

Interleukin-23 receptor gene polymorphisms in osteoporosis

“…In addition to IL-6, polymorphisms of the IL-17F gene were significantly associated with bone mineral density in a Japanese cohort [19]. On the contrary, there was no association between BMD and glutathione Stransferase (GST) and progesterone receptor gene (PROGINS) polymorphisms in OP patients [20]. This study is the first one that reveals the association between IL-23R gene polymorphism and OP.…”

Higher concentration of serum C‐terminal cross‐linking telopeptide of type I collagen is positively related with inflammatory factors in postmenopausal women with H‐type hypertension and osteoporosis

“…Bone metabolism markers can reflect the state of bone transformation in the body, with high sensitivity and specificity, and have important clinical significance in the study of the pathogenesis of osteoporosis and the efficacy of drugs. Interleukin‐6 (IL‐6) and tumor necrosis factor‐α (TNF‐α) are not only critical inflammatory factors in the body but also among the elements that promote bone absorption and cause bone formation disorders.…”