题名

SNP Combinations in Chromosome-Wide Genes are Associated with Bone Mineral Density in Taiwanese Women

作者

Gau-Tyan Lin;Hung-Fu Tseng;Chen-Kang Chang;Li-Yeh Chuang;Chih-Shan Liu;Cheng-Hong Yang;Chung-Jui Tu;Eng-Chi Wang;Hsiu-Fen Tan;Chia-Che Chang;Cheng-Hao Wen;Hsiang-Chi Chen;Hsueh-Wei Chang

关键词

SNP interaction ; BMD ; BMI ; association ; osteoporosis

期刊名称

The Chinese Journal of Physiology

卷期/出版年月

51卷1期(2008 / 02 / 01)

页次

32 - 41

内容语文

英文

英文摘要

Osteoporosis is a major public health problem, mainly quantified by low BMD. Eleven polymorphisms were investigated in this study; TNFα-857 (rs1799724), TGFβ1-509 (rs1800469), osteocalcin (rs1800247), TNFα-308 (rs1800629), PTH BstB I (rs6254), PTH Dra Ⅱ (rs6256), ⅠL-1ra (VNTR), HSP70 hom (rs2227956), HSP 70-2 (rs1061581), CTR (rs1801197), and BMP-4 (rs17563). The relationship between the combined polymorphisms in different genomic regions and BMD variation was investigated. Among the female subjects, the proportion of subjects with low BMD in low BMI group (≤ 18.50) was significantly higher than that of the middle (18.51-22.99) and high (≥ 23.00) BMI groups (P < 0.05). In post-menopausal women, there was a significant association between low BMD and genotypes ranging from 2~7 SNPs. For two combined SNPs, the portion of subjects with low BMD was significantly higher in those with CC-AA genotypes in rs1799724-rs1800629, compared to those with non-CC-AA genotypes in post-menopausal women and the combination of all women. Similarly, part of the combined SNPs with rs1799724-rs1800629-rs6254-rs6256-IL-1ra-rs2227956-rs1801197 was significantly associated with reduced BMD. After controlling for age and BMI, post-menopausal women with certain specific SNP combination had a 3.54- to 4.68-fold increased risk for low BMD, comparing to other SNP combinations. In conclusion, our data suggest that several gene polymorphisms may be cooperatively involved in the development of osteoporosis.

主题分类 醫藥衛生 > 基礎醫學
参考文献
  1. Aberle, J.,Hopfer, I.,Beil, F.U.,Seedorf, U.(2006).Association of peroxisome proliferator-activated receptor delta +294T/C with body mass index and interaction with peroxisome proliferator-activated receptor alpha L162V.Int. J. Obes. (Lond),30,1709-1713.
  2. Baier, R.J.,Loggins, J.,Yanamandra, K.(2006).IL-10, IL-6 and CD14 polymorphisms and sepsis outcome in ventilated very low birth weight infants.BMC Med.,4,10.
  3. Bandres, E.,Pombo, I.,Gonzalez-Huarriz, M.,Rebollo, A.,Lopez, G.,Garcia-Foncillas, J.(2005).Association between bone mineral density and polymorphisms of the VDR, ERalpha, COL1A1 and CTR genes in Spanish postmenopausal women.J. Endocrinol. Invest.,28,312-321.
  4. Camozzi, V.,Carraro, V.,Zangari, M.,Fallo, F.,Mantero, F.,Luisetto, G.(2004).Use of quantitative ultrasound of the hand phalanges in the diagnosis of two different osteoporotic syndromes: Cushing`s syndrome and postmenopausal osteoporosis.J. Endocrinol. Invest.,27,510-515.
  5. Chan, W.B.,Tong, P.C.,Chow, C.C.,So, W.Y.,Ng, M.C.,Ma, R.C.,Osaki, R.,Cockram, C.S.,Chan, J.C.(2004).The associations of body mass index, C-peptide and metabolic status in Chinese Type 2 diabetic patients.Diabet. Med.,21,349-353.
  6. Chang, H.W.,Lee, S.M.,Goodman, S.N.,Singer, G.,Cho, S.K.,Sokoll, L.J.,Montz, F.J.,Roden, R.,Zhang, Z.,Chan, D.W.,Kurman, R.J.,Shih, I.M.(2002).Assessment of plasma DNA levels, allelic imbalance, and CA 125 as diagnostic tests for cancer.J. Natl. Cancer Inst.,94,1697-1703.
  7. Chang, H.W.,Yang, C.H.,Chang, P.L.,Cheng, Y.H.,Chuang, L.Y.(2006).SNP-RFLPing: restriction enzyme mining for SNPs in genomes.BMC Genomics,7,30.
  8. Chang, H.W.,Yen, C.Y.,Liu, S.Y.,Singer, G.,Shih, I.M.(2002).Genotype analysis using human hair shaft.Cancer Epidemiol. Biomarkers Prev.,11,925-929.
  9. Dohi, Y.,Iki, M.,Ohgushi, H.,Gojo, S.,Tabata, S.,Kajita, E.,Nishino, H.,Yonemasu, K.(1998).A novel polymorphism in the promoter region for the human osteocalcin gene: the possibility of a correlation with bone mineral density in postmenopausal Japanese women.J. Bone Miner. Res.,13,1633-1639.
  10. Drews, K.,Seremak-Mrozikiewicz, A.,Bartkowiak-Wieczorek, J.,Pienkowski, W.,Dubiel, M.,Mrozikiewicz, P.M.(2005).Genetic polymorphism of the calcitonin receptor gene and bone mineral density in Polish population of postmenopausal women.Ginekol. Pol.,76,612-618.
  11. Drummond, F.J.,Mackrill, J.J.,O'Sullivan, K.,Daly, M.,Shanahan, F.,Molloy, M.G.(2006).CD38 is associated with premenopausal and postmenopausal bone mineral density and postmenopausal bone loss.J. Bone Miner. Metab.,24,28-35.
  12. Feng, X.,Bonni, S.,Riabowol, K.(2006).HSP70 induction by ING proteins sensitizes cells to tumor necrosis factor alpha receptormediated apoptosis.Mol. Cell. Biol.,26,9244-9255.
  13. Furuta, I.,Kobayashi, N.,Fujino, T.,Kobamatsu, Y.,Shirogane, T.,Yaegashi, M.,Sakuragi, N.,Cho, K.,Yamada, H.,Okuyama, K.,Minakami, H.(2004).Bone mineral density of the lumbar spine is associated with TNF gene polymorphisms in early postmenopausal Japanese women.Calcif. Tissue Int.,74,509-515.
  14. Giguere, Y.,Rousseau, F.(2000).The genetics of osteoporosis: `complexities and difficulties`.Clin. Genet.,57,161-169.
  15. Hogan, B.L.(1996).Bone morphogenetic proteins: multifunctional regulators of vertebrate development.Genes Dev.,10,1580-1594.
  16. Hong, S.,Lim, S.,Li, A.G.,Lee, C.,Lee, Y.S.,Lee, E.K.,Park, S.H.,Wang, X.J.,Kim, S.J.(2007).Smad7 binds to the adaptors TAB2 and TAB3 to block recruitment of the kinase TAK1 to the adaptor TRAF2.Nat. Immunol.,8,504-513.
  17. Hosoi, T.,Miyao, M.,Inoue, S.,Hoshino, S.,Shiraki, M.,Orimo, H.,Ouchi, Y.(1999).Association study of parathyroid hormone gene polymorphism and bone mineral density in Japanese postmenopausal women.Calcif. Tissue Int.,64,205-208.
  18. Hughes, D.E.,Dai, A.,Tiffee, J.C.,Li, H.H.,Mundy, G.R.,Boyce, B.F.(1996).Estrogen promotes apoptosis of murine osteoclasts mediated by TGF-beta.Nat. Med.,2,1132-1136.
  19. Hui, S.L.,Slemenda, C.W.,Johnston, C.C.(1988).Age and bone mass as predictors of fracture in a prospective study.J. Clin. Invest.,81,1804-1809.
  20. Ishida, Y.,Kondo, T.,Kimura, A.,Matsushima, K.,Mukaida, N.(2006).Absence of IL-1 receptor antagonist impaired wound healing along with aberrant NF-kappaB activation and a reciprocal suppression of TGF-beta signal pathway.J. Immunol.,176,5598-5606.
  21. Jiang, D.K.,Shen, H.,Li, M.X.,Jiang, C.,Yang, N.,Zhu, J.,Wu, Y.,Qin, Y.J.,Zhou, Q.,Deng, H.W.(2005).No major effect of the insulinlike growth factor I gene on bone mineral density in premenopausal Chinese women.Bone,36,694-699.
  22. Koh, J.M.,Khang, Y.H.,Jung, C.H.,Bae, S.,Kim, D.J.,Chung, Y.E.,Kim, G.S.(2005).Higher circulating hsCRP levels are associated with lower bone mineral density in healthy pre- and postmenopausal women: evidence for a link between systemic inflammation and osteoporosis.Osteoporos. Int.,16,1263-1271.
  23. Kristensen, V.N.,Tsalenko, A.,Geisler, J.,Faldaas, A.,Grenaker, G.,Lingjaerde, O.C.,Fjeldstad, S.,Yakhini, Z.,Lonning, P.E.,Borresen-Dale, A.L.(2006).Multilocus analysis of SNP and metabolic data within a given pathway.BMC Genomics,7,5.
  24. Leung, J.Y.,Ho, A.Y.,Ip, T.P.,Lee, G.,Kung, A.W.(2005).The efficacy and tolerability of risedronate on bone mineral density and bone turnover markers in osteoporotic Chinese women: a randomized placebo-controlled study.Bone,36,358-364.
  25. Loktionov, A.(2003).Common gene polymorphisms and nutrition: emerging links with pathogenesis of multifactorial chronic diseases (review).J. Nutr. Biochem.,14,426-451.
  26. Mangino, M.,Torrente, I.,De Luca, A.,Sanchez, O.,Dallapiccola, B.,Novelli, G.(1999).A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) gene.J. Hum. Genet.,44,76-77.
  27. Melton, L.J.,Kan, S.H.,Frye, M.A.,Wahner, H.W.,O`Fallon, W.M.,Riggs, B.L.(1989).Epidemiology of vertebral fractures in women.Am. J. Epidemiol.,129,1000-1011.
  28. Mezquita-Raya, P.,Munoz-Torres, M.,Alonso, G.,de Luna, J.D.,Quesada, J.M.,Dorado, G.,Luque-Recio, F.,Ruiz-Requena, M.E.,Lopez-Rodriguez, F.,Escobar-Jimenez, F.(2004).Susceptibility for postmenopausal osteoporosis: interaction between genetic, hormonal and lifestyle factors.Calcif. Tissue Int.,75,373-379.
  29. Miyao, M.,Hosoi, T.,Inoue, S.,Hoshino, S.,Shiraki, M.,Orimo, H.,Ouchi, Y.(1998).Polymorphism of insulin-like growth factor I gene and bone mineral density.Calcif. Tissue Int.,63,306-311.
  30. Moffett, S.P.,Zmuda, J.M.,Oakley, J.I.,Beck, T.J.,Cauley, J.A.,Stone, K.L.,Lui, L.Y.,Ensrud, K.E.,Hillier, T.A.,Hochberg, M.C.,Morin, P.,Peltz, G.,Greene, D.,Cummings, S.R.(2005).Tumor necrosis factoralpha polymorphism, bone strength phenotypes, and the risk of fracture in older women.J. Clin. Endocrinol. Metab.,90,3491-3497.
  31. Mukai, T.,Otsuka, F.,Otani, H.,Yamashita, M.,Takasugi, K.,Inagaki, K.,Yamamura, M.,Makino, H.(2007).TNF-alpha inhibits BMP-induced osteoblast differentiation through activating SAPK/JNK signaling.Biochem. Biophys. Res. Commun.,356,1004-1010.
  32. Nakamura, M.,Zhang, Z.Q.,Shan, L.,Hisa, T.,Sasaki, M.,Tsukino, R.,Yokoi, T.,Kaname, A.,Kakudo, K.(1997).Allelic variants of human calcitonin receptor in the Japanese population.Hum. Genet.,99,38-41.
  33. NIH Consensus Development Panel on Osteoporosis Prevention, D., and Therapy(2001).Osteoporosis prevention, diagnosis, and therapy.J. Am. Med. Assoc.,285,785-795.
  34. Osmanagaoglu, M.A.,Okumus, B.,Osmanagaoglu, T.,Bozkaya, H.(2004).The relationship between serum dehydroepiandrosterone sulfate concentration and bone mineral density, lipids, and hormone replacement therapy in premenopausal and postmenopausal women.J. Womens Health (Larchmt),13,993-999.
  35. Peacock, M.,Liu, G.,Carey, M.,Ambrosius, W.,Turner, C.H.,Hui, S.,Johnston, C.C.(1998).Bone mass and structure at the hip in men and women over the age of 60 years.Osteoporos. Int.,8,231-239.
  36. Phelps, E.,Bezouglaia, O.,Tetradis, S.,Nervina, J.M.(2005).Parathyroid hormone induces receptor activity modifying protein-3 (RAMP3) expression primarily via 3`,5`-cyclic adenosine monophosphate signaling in osteoblasts.Calcif. Tissue Int.,77,96-103.
  37. Ramesh Babu, L.,Wilson, S.G.,Dick, I.M.,Islam, F.M.,Devine, A.,Prince, R.L.(2005).Bone mass effects of a BMP4 gene polymorphism in postmenopausal women.Bone,36,555-561.
  38. Rizzoli, R.,Bonjour, J.P.,Ferrari, S.L.(2001).Osteoporosis, genetics and hormones.J. Mol. Endocrinol.,26,79-94.
  39. Sadat-Ali, M.,Al-Habdan, I.M.,Al-Mulhim, F.A.,El-Hassan, A.Y.(2004).Bone mineral density among postmenopausal Saudi women.Saudi. Med.,25,1623-1625.
  40. Schulte, C.M.,Dignass, A.U.,Goebell, H.,Roher, H.D.,Schulte, K.M.(2000).Genetic factors determine extent of bone loss in inflammatory bowel disease.Gastroenterology,119,909-920.
  41. Summers, K.M.,Brock, T.P.(2005).Impact of pharmacist-led community bone mineral density screenings.Ann. Pharmacother.,39,243-248.
  42. Taboulet, J.,Frenkian, M.,Frendo, J.L.,Feingold, N.,Jullienne, A.,de Vernejoul, M.C.(1998).Calcitonin receptor polymorphism is associated with a decreased fracture risk in post-menopausal women.Hum. Mol. Genet.,7,2129-2133.
  43. Xu, H.,Xiong, D.H.,Xu, F.H.,Zhang, Y.Y.,Lei, S.F.,Deng, H.W.(2005).Association between VDR ApaI polymorphism and hip bone mineral density can be modified by body mass index: a study on postmenopausal Chinese women.Acta Biochim. Biophys. Sin.,37,61-67.
  44. Yamada, Y.,Miyauchi, A.,Takagi, Y.,Tanaka, M.,Mizuno, M.,Harada, A.(2001).Association of the C-509-->T polymorphism, alone of in combination with the T869-->C polymorphism, of the transforming growth factor-beta1 gene with bone mineral density and genetic susceptibility to osteoporosis in Japanese women.J. Mol. Med.,79,149-156.
被引用次数
  1. Yao, Chun-Hsu,Sen, Yang,Huang, Teng-Le,Huang, Chih-Yang,Hu, Chung-Hsuan,Ho, Chien-Yi,Chan, Tzu-Min,Yao, Chun-Hsu,Sen, Yang,Huang, Teng-Le,Huang, Chih-Yang,Hu, Chung-Hsuan,Ho, Chien-Yi,Chan, Tzu-Min(2016).Effects of Different Concentrations of Collagenous Peptide from Fish Scales on Osteoblast Proliferation and Osteoclast Resorption.中國生理學雜誌,59(4),191-201.