Skip to main content
Erschienen in: Osteoporosis International 7/2016

27.01.2016 | Original Article

Associations between vitamin D receptor gene polymorphisms and ankylosing spondylitis in Chinese Han population: a case–control study

verfasst von: G. Cai, X. Zhang, L. Xin, L. Wang, M. Wang, X. Yang, X. Li, Q. Xia, S. Xu, C. Ding, F. Pan

Erschienen in: Osteoporosis International | Ausgabe 7/2016

Einloggen, um Zugang zu erhalten

Abstract

Summary

We assessed whether the vitamin D receptor gene polymorphisms (FokI, BsmI, ApaI, and TaqI) were associated with ankylosing spondylitis (AS) in a Chinese Han population. The TaqI polymorphism G allele was a risk factor in AS susceptibility.

Introduction

Previous studies have found that serum vitamin D levels are declined in patients with AS. The present study aims to evaluate the role of vitamin D receptor (VDR) gene polymorphisms in AS susceptibility in a Chinese Han population.

Methods

Four single nucleotide polymorphisms (SNPs) in the VDR gene (FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236)) were genotyped by the improved multiplex ligase detection reaction (iMLDR) method in 620 AS patients and 620 geographically and ethnically matched healthy controls. Haplotypes were constructed after linkage disequilibrium (LD) analysis.

Results

Statistically significant difference was only found in the TaqI polymorphism between AS patients and controls. The TaqI polymorphism G allele was higher in AS group than that in controls (OR [95 % CI] = 1.624 [1.122–2.352], χ 2 = 6.705, P = 0.006). Linkage disequilibrium has been detected in TaqI and BsmI polymorphisms (D′ = 0.87, r 2 = 0.70). Two novel haplotypes (H1: AC and H2: GT) were significantly associated with the risk of AS, and they play protective and risk roles in AS morbidity, respectively.

Conclusions

The VDR gene TaqI polymorphism G allele may be a risk factor in AS susceptibility.
Literatur
1.
Zurück zum Zitat D’Ambrosio D, Cippitelli M, Cocciolo MG, Mazzeo D, Di Lucia P, Lang R, Sinigaglia F, Panina-Bordignon P (1998) Inhibition of IL-12 production by 1,25-dihydroxyvitamin D3. Involvement of NF-kappaB downregulation in transcriptional repression of the p40 gene. J Clin Invest 101(1):252–262. doi:10.1172/JCI1050 CrossRefPubMedPubMedCentral D’Ambrosio D, Cippitelli M, Cocciolo MG, Mazzeo D, Di Lucia P, Lang R, Sinigaglia F, Panina-Bordignon P (1998) Inhibition of IL-12 production by 1,25-dihydroxyvitamin D3. Involvement of NF-kappaB downregulation in transcriptional repression of the p40 gene. J Clin Invest 101(1):252–262. doi:10.​1172/​JCI1050 CrossRefPubMedPubMedCentral
2.
Zurück zum Zitat Tsoukas CD, Watry D, Escobar SS, Provvedini DM, Dinarello CA, Hustmyer FG, Manolagas SC (1989) Inhibition of interleukin-1 production by 1,25-dihydroxyvitamin D3. J Clin Endocrinol Metab 69(1):127–133. doi:10.1210/jcem-69-1-127 CrossRefPubMed Tsoukas CD, Watry D, Escobar SS, Provvedini DM, Dinarello CA, Hustmyer FG, Manolagas SC (1989) Inhibition of interleukin-1 production by 1,25-dihydroxyvitamin D3. J Clin Endocrinol Metab 69(1):127–133. doi:10.​1210/​jcem-69-1-127 CrossRefPubMed
3.
Zurück zum Zitat Rigby WF, Denome S, Fanger MW (1987) Regulation of lymphokine production and human T lymphocyte activation by 1,25-dihydroxyvitamin D3. Specific inhibition at the level of messenger RNA. J Clin Invest 79(6):1659–1664. doi:10.1172/JCI113004 CrossRefPubMedPubMedCentral Rigby WF, Denome S, Fanger MW (1987) Regulation of lymphokine production and human T lymphocyte activation by 1,25-dihydroxyvitamin D3. Specific inhibition at the level of messenger RNA. J Clin Invest 79(6):1659–1664. doi:10.​1172/​JCI113004 CrossRefPubMedPubMedCentral
5.
Zurück zum Zitat Cutolo M, Otsa K, Laas K, Yprus M, Lehtme R, Secchi ME, Sulli A, Paolino S, Seriolo B (2006) Circannual vitamin D serum levels and disease activity in rheumatoid arthritis: Northern versus Southern Europe. Clin Exp Rheumatol 24(6):702–704PubMed Cutolo M, Otsa K, Laas K, Yprus M, Lehtme R, Secchi ME, Sulli A, Paolino S, Seriolo B (2006) Circannual vitamin D serum levels and disease activity in rheumatoid arthritis: Northern versus Southern Europe. Clin Exp Rheumatol 24(6):702–704PubMed
6.
Zurück zum Zitat Adamczak DM, Nowak JK, Frydrychowicz M, Kaczmarek M, Sikora J (2014) The role of toll-like receptors and vitamin D in diabetes mellitus type 1—a review. Scand J Immunol 80(2):75–84. doi:10.1111/sji.12188 CrossRefPubMed Adamczak DM, Nowak JK, Frydrychowicz M, Kaczmarek M, Sikora J (2014) The role of toll-like receptors and vitamin D in diabetes mellitus type 1—a review. Scand J Immunol 80(2):75–84. doi:10.​1111/​sji.​12188 CrossRefPubMed
7.
Zurück zum Zitat Zhu ZH, Jin XZ, Zhang W, Chen M, Ye DQ, Zhai Y, Dong FL, Shen CL, Ding C (2014) Associations between vitamin D receptor gene polymorphisms and osteoarthritis: an updated meta-analysis. Rheumatology 53(6):998–1008. doi:10.1093/rheumatology/ket418 CrossRefPubMed Zhu ZH, Jin XZ, Zhang W, Chen M, Ye DQ, Zhai Y, Dong FL, Shen CL, Ding C (2014) Associations between vitamin D receptor gene polymorphisms and osteoarthritis: an updated meta-analysis. Rheumatology 53(6):998–1008. doi:10.​1093/​rheumatology/​ket418 CrossRefPubMed
8.
Zurück zum Zitat Luo XY, Yang MH, Wu FX, Wu LJ, Chen L, Tang Z, Liu NT, Zeng XF, Guan JL, Yuan GH (2012) Vitamin D receptor gene BsmI polymorphism B allele, but not BB genotype, is associated with systemic lupus erythematosus in a Han Chinese population. Lupus 21(1):53–59. doi:10.1177/0961203311422709 CrossRefPubMed Luo XY, Yang MH, Wu FX, Wu LJ, Chen L, Tang Z, Liu NT, Zeng XF, Guan JL, Yuan GH (2012) Vitamin D receptor gene BsmI polymorphism B allele, but not BB genotype, is associated with systemic lupus erythematosus in a Han Chinese population. Lupus 21(1):53–59. doi:10.​1177/​0961203311422709​ CrossRefPubMed
9.
Zurück zum Zitat Maalej A, Petit-Teixeira E, Michou L, Rebai A, Cornelis F, Ayadi H (2005) Association study of VDR gene with rheumatoid arthritis in the French population. Genes Immun 6(8):707–711. doi:10.1038/sj.gene.6364260 PubMed Maalej A, Petit-Teixeira E, Michou L, Rebai A, Cornelis F, Ayadi H (2005) Association study of VDR gene with rheumatoid arthritis in the French population. Genes Immun 6(8):707–711. doi:10.​1038/​sj.​gene.​6364260 PubMed
10.
Zurück zum Zitat Mohammadnejad Z, Ghanbari M, Ganjali R, Afshari JT, Heydarpour M, Taghavi SM, Fatemi S, Rafatpanah H (2012) Association between vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in Iranian population. Mol Biol Rep 39(2):831–837. doi:10.1007/s11033-011-0805-3 CrossRefPubMed Mohammadnejad Z, Ghanbari M, Ganjali R, Afshari JT, Heydarpour M, Taghavi SM, Fatemi S, Rafatpanah H (2012) Association between vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in Iranian population. Mol Biol Rep 39(2):831–837. doi:10.​1007/​s11033-011-0805-3 CrossRefPubMed
12.
Zurück zum Zitat Cai G, Wang L, Fan D, Xin L, Liu L, Hu Y, Ding N, Xu S, Xia G, Jin X, Xu J, Zou Y, Pan F (2015) Vitamin D in ankylosing spondylitis: review and meta-analysis. Clin Chim Acta Int J Clin Chem 438:316–322. doi:10.1016/j.cca.2014.08.040 CrossRef Cai G, Wang L, Fan D, Xin L, Liu L, Hu Y, Ding N, Xu S, Xia G, Jin X, Xu J, Zou Y, Pan F (2015) Vitamin D in ankylosing spondylitis: review and meta-analysis. Clin Chim Acta Int J Clin Chem 438:316–322. doi:10.​1016/​j.​cca.​2014.​08.​040 CrossRef
13.
Zurück zum Zitat van der Linden S, Valkenburg HA, Cats A (1984) Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria. Arthritis Rheum 27(4):361–368CrossRefPubMed van der Linden S, Valkenburg HA, Cats A (1984) Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria. Arthritis Rheum 27(4):361–368CrossRefPubMed
14.
Zurück zum Zitat Braun J, Kiltz U, Baraliakos X, van der Heijde D (2014) Optimisation of rheumatology assessments—the actual situation in axial spondyloarthritis including ankylosing spondylitis. Clin Exp Rheumatol 32(5 Suppl 85):S-96–S-104 Braun J, Kiltz U, Baraliakos X, van der Heijde D (2014) Optimisation of rheumatology assessments—the actual situation in axial spondyloarthritis including ankylosing spondylitis. Clin Exp Rheumatol 32(5 Suppl 85):S-96–S-104
17.
Zurück zum Zitat Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondylitis Consortium, Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Barrett JC, Davison D, Easton D, Evans DM, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M, Breen G, St Clair D, Caesar S, Gordon-Smith K, Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskivina V, Nikolov I, O’Donovan MC, Owen MJ, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P, Young AH, Ferrier IN, Ball SG, Balmforth AJ, Barrett JH, Bishop TD, Iles MM, Maqbool A, Yuldasheva N, Hall AS, Braund PS, Dixon RJ, Mangino M, Stevens S, Thompson JR, Bredin F, Tremelling M, Parkes M, Drummond H, Lees CW, Nimmo ER, Satsangi J, Fisher SA, Forbes A, Lewis CM, Onnie CM, Prescott NJ, Sanderson J, Matthew CG, Barbour J, Mohiuddin MK, Todhunter CE, Mansfield JC, Ahmad T, Cummings FR, Jewell DP, Webster J, Brown MJ, Lathrop MG, Connell J, Dominiczak A, Marcano CA, Burke B, Dobson R, Gungadoo J, Lee KL, Munroe PB, Newhouse SJ, Onipinla A, Wallace C, Xue M, Caulfield M, Farrall M, Barton A, Biologics in RA Genetics and Genomics Study Syndicate Steering Committee, Bruce IN, Donovan H, Eyre S, Gilbert PD, Hilder SL, Hinks AM, John SL, Potter C, Silman AJ, Symmons DP, Thomson W, Worthington J, Dunger DB, Widmer B, Frayling TM, Freathy RM, Lango H, Perry JR, Shields BM, Weedon MN, Hattersley AT, Hitman GA, Walker M, Elliott KS, Groves CJ, Lindgren CM, Rayner NW, Timpson NJ, Zeggini E, Newport M, Sirugo G, Lyons E, Vannberg F, Hill AV, Bradbury LA, Farrar C, Pointon JJ, Wordsworth P, Brown MA, Franklyn JA, Heward JM, Simmonds MJ, Gough SC, Seal S, Breast Cancer Susceptibility Collaboration, Stratton MR, Rahman N, Ban M, Goris A, Sawcer SJ, Compston A, Conway D, Jallow M, Newport M, Sirugo G, Rockett KA, Bumpstead SJ, Chaney A, Downes K, Ghori MJ, Gwilliam R, Hunt SE, Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P, Widden C, Withers D, Cardin NJ, Davison D, Ferreira T, Pereira-Gale J, Hallgrimsdo’ttir IB, Howie BN, Su Z, Teo YY, Vukcevic D, Bentley D, Brown MA, Compston A, Farrall M, Hall AS, Hattersley AT, Hill AV, Parkes M, Pembrey M, Stratton MR, Mitchell SL, Newby PR, Brand OJ, Carr-Smith J, Pearce SH, McGinnis R, Keniry A, Deloukas P, Reveille JD, Zhou X, Sims AM, Dowling A, Taylor J, Doan T, Davis JC, Savage L, Ward MM, Learch TL, Weisman MH, Brown M (2007) Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 39(11):1329–1337. doi:10.1038/ng.2007.17 Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondylitis Consortium, Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Barrett JC, Davison D, Easton D, Evans DM, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M, Breen G, St Clair D, Caesar S, Gordon-Smith K, Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskivina V, Nikolov I, O’Donovan MC, Owen MJ, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P, Young AH, Ferrier IN, Ball SG, Balmforth AJ, Barrett JH, Bishop TD, Iles MM, Maqbool A, Yuldasheva N, Hall AS, Braund PS, Dixon RJ, Mangino M, Stevens S, Thompson JR, Bredin F, Tremelling M, Parkes M, Drummond H, Lees CW, Nimmo ER, Satsangi J, Fisher SA, Forbes A, Lewis CM, Onnie CM, Prescott NJ, Sanderson J, Matthew CG, Barbour J, Mohiuddin MK, Todhunter CE, Mansfield JC, Ahmad T, Cummings FR, Jewell DP, Webster J, Brown MJ, Lathrop MG, Connell J, Dominiczak A, Marcano CA, Burke B, Dobson R, Gungadoo J, Lee KL, Munroe PB, Newhouse SJ, Onipinla A, Wallace C, Xue M, Caulfield M, Farrall M, Barton A, Biologics in RA Genetics and Genomics Study Syndicate Steering Committee, Bruce IN, Donovan H, Eyre S, Gilbert PD, Hilder SL, Hinks AM, John SL, Potter C, Silman AJ, Symmons DP, Thomson W, Worthington J, Dunger DB, Widmer B, Frayling TM, Freathy RM, Lango H, Perry JR, Shields BM, Weedon MN, Hattersley AT, Hitman GA, Walker M, Elliott KS, Groves CJ, Lindgren CM, Rayner NW, Timpson NJ, Zeggini E, Newport M, Sirugo G, Lyons E, Vannberg F, Hill AV, Bradbury LA, Farrar C, Pointon JJ, Wordsworth P, Brown MA, Franklyn JA, Heward JM, Simmonds MJ, Gough SC, Seal S, Breast Cancer Susceptibility Collaboration, Stratton MR, Rahman N, Ban M, Goris A, Sawcer SJ, Compston A, Conway D, Jallow M, Newport M, Sirugo G, Rockett KA, Bumpstead SJ, Chaney A, Downes K, Ghori MJ, Gwilliam R, Hunt SE, Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P, Widden C, Withers D, Cardin NJ, Davison D, Ferreira T, Pereira-Gale J, Hallgrimsdo’ttir IB, Howie BN, Su Z, Teo YY, Vukcevic D, Bentley D, Brown MA, Compston A, Farrall M, Hall AS, Hattersley AT, Hill AV, Parkes M, Pembrey M, Stratton MR, Mitchell SL, Newby PR, Brand OJ, Carr-Smith J, Pearce SH, McGinnis R, Keniry A, Deloukas P, Reveille JD, Zhou X, Sims AM, Dowling A, Taylor J, Doan T, Davis JC, Savage L, Ward MM, Learch TL, Weisman MH, Brown M (2007) Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 39(11):1329–1337. doi:10.​1038/​ng.​2007.​17
18.
Zurück zum Zitat Smith JA, Colbert RA (2014) Review: the interleukin-23/interleukin-17 axis in spondyloarthritis pathogenesis: Th17 and beyond. Arthritis Rheum 66(2):231–241. doi:10.1002/art.38291 CrossRef Smith JA, Colbert RA (2014) Review: the interleukin-23/interleukin-17 axis in spondyloarthritis pathogenesis: Th17 and beyond. Arthritis Rheum 66(2):231–241. doi:10.​1002/​art.​38291 CrossRef
19.
Zurück zum Zitat Coffre M, Roumier M, Rybczynska M, Sechet E, Law HK, Gossec L, Dougados M, Bianchi E, Rogge L (2013) Combinatorial control of Th17 and Th1 cell functions by genetic variations in genes associated with the interleukin-23 signaling pathway in spondyloarthritis. Arthritis Rheum 65(6):1510–1521. doi:10.1002/art.37936 CrossRefPubMed Coffre M, Roumier M, Rybczynska M, Sechet E, Law HK, Gossec L, Dougados M, Bianchi E, Rogge L (2013) Combinatorial control of Th17 and Th1 cell functions by genetic variations in genes associated with the interleukin-23 signaling pathway in spondyloarthritis. Arthritis Rheum 65(6):1510–1521. doi:10.​1002/​art.​37936 CrossRefPubMed
20.
Zurück zum Zitat Australo-Anglo-American Spondyloarthritis Consortium, Reveille JD, Sims AM, Danoy P, Evans DM, Leo P, Pointon JJ, Jin R, Zhou X, Bradbury LA, Appleton LH, Davis JC, Diekman L, Doan T, Dowling A, Duan R, Duncan EL, Farrar C, Hadler J, Harvey D, Karaderi T, Mogg R, Pomeroy E, Pryce K, Taylor J, Savage L, Deloukas P, Kumanduri V, Peltonen L, Ring SM, Whittaker P, Glazov E, Thomas GP, Maksymowych WP, Inman RD, Ward MM, Stone MA, Weisman MH, Wordsworth BP, Brown MA (2010) Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet 42(2):123–127. doi:10.1038/ng.513 CrossRef Australo-Anglo-American Spondyloarthritis Consortium, Reveille JD, Sims AM, Danoy P, Evans DM, Leo P, Pointon JJ, Jin R, Zhou X, Bradbury LA, Appleton LH, Davis JC, Diekman L, Doan T, Dowling A, Duan R, Duncan EL, Farrar C, Hadler J, Harvey D, Karaderi T, Mogg R, Pomeroy E, Pryce K, Taylor J, Savage L, Deloukas P, Kumanduri V, Peltonen L, Ring SM, Whittaker P, Glazov E, Thomas GP, Maksymowych WP, Inman RD, Ward MM, Stone MA, Weisman MH, Wordsworth BP, Brown MA (2010) Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet 42(2):123–127. doi:10.​1038/​ng.​513 CrossRef
21.
Zurück zum Zitat Lin Z, Bei JX, Shen M, Li Q, Liao Z, Zhang Y, Lv Q, Wei Q, Low HQ, Guo YM, Cao S, Yang M, Hu Z, Xu M, Wang X, Wei Y, Li L, Li C, Li T, Huang J, Pan Y, Jin O, Wu Y, Wu J, Guo Z, He P, Hu S, Wu H, Song H, Zhan F, Liu S, Gao G, Liu Z, Li Y, Xiao C, Li J, Ye Z, He W, Liu D, Shen L, Huang A, Wu H, Tao Y, Pan X, Yu B, Tai ES, Zeng YX, Ren EC, Shen Y, Liu J, Gu J (2012) A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. Nat Genet 44(1):73–77. doi:10.1038/ng.1005 CrossRef Lin Z, Bei JX, Shen M, Li Q, Liao Z, Zhang Y, Lv Q, Wei Q, Low HQ, Guo YM, Cao S, Yang M, Hu Z, Xu M, Wang X, Wei Y, Li L, Li C, Li T, Huang J, Pan Y, Jin O, Wu Y, Wu J, Guo Z, He P, Hu S, Wu H, Song H, Zhan F, Liu S, Gao G, Liu Z, Li Y, Xiao C, Li J, Ye Z, He W, Liu D, Shen L, Huang A, Wu H, Tao Y, Pan X, Yu B, Tai ES, Zeng YX, Ren EC, Shen Y, Liu J, Gu J (2012) A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. Nat Genet 44(1):73–77. doi:10.​1038/​ng.​1005 CrossRef
22.
Zurück zum Zitat Evans DM, Spencer CC, Pointon JJ, Su Z, Harvey D, Kochan G, Oppermann U, Dilthey A, Pirinen M, Stone MA, Appleton L, Moutsianas L, Leslie S, Wordsworth T, Kenna TJ, Karaderi T, Thomas GP, Ward MM, Weisman MH, Farrar C, Bradbury LA, Danoy P, Inman RD, Maksymowych W, Gladman D, Rahman P, Spondyloarthritis Research Consortium of Canada, Morgan A, Marzo-Ortega H, Bowness P, Gaffney K, Gaston JS, Smith M, Bruges-Armas J, Couto AR, Sorrentino R, Paladini F, Ferreira MA, Xu H, Liu Y, Jiang L, Lopez-Larrea C, Diaz-Pena R, Lopez-Vazquez A, Zayats T, Band G, Bellenguez C, Blackburn H, Blackwell JM, Bramon E, Bumpstead SJ, Casas JP, Corvin A, Craddock N, Deloukas P, Dronov S, Duncanson A, Edkins S, Freeman C, Gillman M, Gray E, Gwilliam R, Hammond N, Hunt SE, Jankowski J, Jayakumar A, Langford C, Liddle J, Markus HS, Mathew CG, McCann OT, McCarthy MI, Palmer CN, Peltonen L, Plomin R, Potter SC, Rautanen A, Ravindrarajah R, Ricketts M, Samani N, Sawcer SJ, Strange A, Trembath RC, Viswanathan AC, Waller M, Weston P, Whittaker P, Widaa S, Wood NW, McVean G, Reveille JD, Wordsworth BP, Brown MA, Donnelly P, Australo-Anglo-American Spondyloarthritis Consortium, Wellcome Trust Case Control C (2011) Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet 43(8):761–767. doi:10.1038/ng.873 Evans DM, Spencer CC, Pointon JJ, Su Z, Harvey D, Kochan G, Oppermann U, Dilthey A, Pirinen M, Stone MA, Appleton L, Moutsianas L, Leslie S, Wordsworth T, Kenna TJ, Karaderi T, Thomas GP, Ward MM, Weisman MH, Farrar C, Bradbury LA, Danoy P, Inman RD, Maksymowych W, Gladman D, Rahman P, Spondyloarthritis Research Consortium of Canada, Morgan A, Marzo-Ortega H, Bowness P, Gaffney K, Gaston JS, Smith M, Bruges-Armas J, Couto AR, Sorrentino R, Paladini F, Ferreira MA, Xu H, Liu Y, Jiang L, Lopez-Larrea C, Diaz-Pena R, Lopez-Vazquez A, Zayats T, Band G, Bellenguez C, Blackburn H, Blackwell JM, Bramon E, Bumpstead SJ, Casas JP, Corvin A, Craddock N, Deloukas P, Dronov S, Duncanson A, Edkins S, Freeman C, Gillman M, Gray E, Gwilliam R, Hammond N, Hunt SE, Jankowski J, Jayakumar A, Langford C, Liddle J, Markus HS, Mathew CG, McCann OT, McCarthy MI, Palmer CN, Peltonen L, Plomin R, Potter SC, Rautanen A, Ravindrarajah R, Ricketts M, Samani N, Sawcer SJ, Strange A, Trembath RC, Viswanathan AC, Waller M, Weston P, Whittaker P, Widaa S, Wood NW, McVean G, Reveille JD, Wordsworth BP, Brown MA, Donnelly P, Australo-Anglo-American Spondyloarthritis Consortium, Wellcome Trust Case Control C (2011) Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet 43(8):761–767. doi:10.​1038/​ng.​873
26.
Zurück zum Zitat Xu Y, He B, Pan Y, Deng Q, Sun H, Li R, Gao T, Song G, Wang S (2014) Systematic review and meta-analysis on vitamin D receptor polymorphisms and cancer risk. Tumour Biol J Int Soc Oncodev Biol Med 35(5):4153–4169. doi:10.1007/s13277-013-1544-y CrossRef Xu Y, He B, Pan Y, Deng Q, Sun H, Li R, Gao T, Song G, Wang S (2014) Systematic review and meta-analysis on vitamin D receptor polymorphisms and cancer risk. Tumour Biol J Int Soc Oncodev Biol Med 35(5):4153–4169. doi:10.​1007/​s13277-013-1544-y CrossRef
29.
Zurück zum Zitat Tizaoui K, Berraies A, Hamdi B, Kaabachi W, Hamzaoui K, Hamzaoui A (2014) Association of vitamin D receptor gene polymorphisms with asthma risk: systematic review and updated meta-analysis of case–control studies. Lung 192(6):955–965. doi:10.1007/s00408-014-9648-8 CrossRefPubMed Tizaoui K, Berraies A, Hamdi B, Kaabachi W, Hamzaoui K, Hamzaoui A (2014) Association of vitamin D receptor gene polymorphisms with asthma risk: systematic review and updated meta-analysis of case–control studies. Lung 192(6):955–965. doi:10.​1007/​s00408-014-9648-8 CrossRefPubMed
30.
Zurück zum Zitat Whitfield GK, Remus LS, Jurutka PW, Zitzer H, Oza AK, Dang HT, Haussler CA, Galligan MA, Thatcher ML, Encinas Dominguez C, Haussler MR (2001) Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene. Mol Cell Endocrinol 177(1–2):145–159CrossRefPubMed Whitfield GK, Remus LS, Jurutka PW, Zitzer H, Oza AK, Dang HT, Haussler CA, Galligan MA, Thatcher ML, Encinas Dominguez C, Haussler MR (2001) Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene. Mol Cell Endocrinol 177(1–2):145–159CrossRefPubMed
31.
Zurück zum Zitat Hitchon CA, Sun Y, Robinson DB, Peschken CA, Bernstein CN, Siminovitch KA, El-Gabalawy HS (2012) Vitamin D receptor polymorphism rs2228570 (Fok1) is associated with rheumatoid arthritis in North American natives. J Rheumatol 39(9):1792–1797. doi:10.3899/jrheum.120387 CrossRefPubMed Hitchon CA, Sun Y, Robinson DB, Peschken CA, Bernstein CN, Siminovitch KA, El-Gabalawy HS (2012) Vitamin D receptor polymorphism rs2228570 (Fok1) is associated with rheumatoid arthritis in North American natives. J Rheumatol 39(9):1792–1797. doi:10.​3899/​jrheum.​120387 CrossRefPubMed
35.
Zurück zum Zitat Obermayer-Pietsch BM, Lange U, Tauber G, Fruhauf G, Fahrleitner A, Dobnig H, Hermann J, Aglas F, Teichmann J, Neeck G, Leb G (2003) Vitamin D receptor initiation codon polymorphism, bone density and inflammatory activity of patients with ankylosing spondylitis. Osteoporos Int J Estab Result Coop Eur Found Osteoporos Natl Osteoporos Found USA 14(12):995–1000. doi:10.1007/s00198-003-1501-5 CrossRef Obermayer-Pietsch BM, Lange U, Tauber G, Fruhauf G, Fahrleitner A, Dobnig H, Hermann J, Aglas F, Teichmann J, Neeck G, Leb G (2003) Vitamin D receptor initiation codon polymorphism, bone density and inflammatory activity of patients with ankylosing spondylitis. Osteoporos Int J Estab Result Coop Eur Found Osteoporos Natl Osteoporos Found USA 14(12):995–1000. doi:10.​1007/​s00198-003-1501-5 CrossRef
36.
Zurück zum Zitat Morrison NA, Qi JC, Tokita A, Kelly PJ, Crofts L, Nguyen TV, Sambrook PN, Eisman JA (1994) Prediction of bone density from vitamin D receptor alleles. Nature 367(6460):284–287. doi:10.1038/367284a0 CrossRefPubMed Morrison NA, Qi JC, Tokita A, Kelly PJ, Crofts L, Nguyen TV, Sambrook PN, Eisman JA (1994) Prediction of bone density from vitamin D receptor alleles. Nature 367(6460):284–287. doi:10.​1038/​367284a0 CrossRefPubMed
37.
Zurück zum Zitat Durrin LK, Haile RW, Ingles SA, Coetzee GA (1999) Vitamin D receptor 3′-untranslated region polymorphisms: lack of effect on mRNA stability. Biochim Biophys Acta 1453(3):311–320CrossRefPubMed Durrin LK, Haile RW, Ingles SA, Coetzee GA (1999) Vitamin D receptor 3′-untranslated region polymorphisms: lack of effect on mRNA stability. Biochim Biophys Acta 1453(3):311–320CrossRefPubMed
Metadaten
Titel
Associations between vitamin D receptor gene polymorphisms and ankylosing spondylitis in Chinese Han population: a case–control study
verfasst von
G. Cai
X. Zhang
L. Xin
L. Wang
M. Wang
X. Yang
X. Li
Q. Xia
S. Xu
C. Ding
F. Pan
Publikationsdatum
27.01.2016
Verlag
Springer London
Erschienen in
Osteoporosis International / Ausgabe 7/2016
Print ISSN: 0937-941X
Elektronische ISSN: 1433-2965
DOI
https://doi.org/10.1007/s00198-016-3500-3

Weitere Artikel der Ausgabe 7/2016

Osteoporosis International 7/2016 Zur Ausgabe

Arthropedia

Grundlagenwissen der Arthroskopie und Gelenkchirurgie. Erweitert durch Fallbeispiele, Videos und Abbildungen. 
» Jetzt entdecken

Update Orthopädie und Unfallchirurgie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.