Skip Navigation


Human Molecular Genetics Advance Access originally published online on June 2, 2004
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Supplementary Material
Right arrow All Versions of this Article:
13/15/1633    most recent
ddh169v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (63)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Nejentsev, S.
Right arrow Articles by Todd, J. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Nejentsev, S.
Right arrow Articles by Todd, J. A.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, 2004, Vol. 13, No. 15 1633-1639
DOI: 10.1093/hmg/ddh169
Human Molecular Genetics, Vol. 13, No. 15 © Oxford University Press 2004; all rights reserved

Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene

Sergey Nejentsev1,*, Lisa Godfrey1, Hywel Snook1, Helen Rance1, Sarah Nutland1, Neil M. Walker1, Alex C. Lam1, Cristian Guja3, Constantin Ionescu-Tirgoviste3, Dag E. Undlien4, Kjersti S. Rønningen5, Eva Tuomilehto-Wolf6, Jaakko Tuomilehto6,7, Melanie J. Newport2, David G. Clayton1 and John A. Todd1

1Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, 2Department of Medicine, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK, 3Clinic of Diabetes, Institute of Diabetes, Nutrition and Metabolic Diseases, N. Paulescu, Bucharest, Romania, 4Institute of Medical Genetics, Ulleval University Hospital, University of Oslo, Oslo, Norway, 5Laboratory of Molecular Epidemiology, Division of Epidemiology, Norwegian Institute of Public Health, Oslo, Norway, 6Diabetes and Genetic Epidemiology Unit, National Public Health Institute, Helsinki, Finland and 7Department of Public Health, University of Helsinki, Helsinki, Finland

Received April 2, 2004; Accepted May 21, 2004

A genome-wide map of single nucleotide polymorphisms (SNP) and a pattern of linkage disequilibrium (LD) between their alleles are being established in three main ethnic groups. An important question is the applicability of such maps to different populations within a main ethnic group. Therefore, we have developed high-resolution SNP, haplotype and LD maps of vitamin D receptor gene region in large samples from five populations. Comparative analysis reveals that the LD patterns are identical in all four European populations tested with two small regions of 1.3 and 5.7 kb at which LD is disrupted completely resulting in three block-like regions over which there is significant and extensive LD. In an African population the pattern is similar, but two additional LD-breaking spots are also apparent. This LD pattern suggests combined action of recombination hotspots and founder effects, but cannot be explained by random recombination and genetic drift alone. Direct comparison indicates that the tag SNPs selected in one European population effectively predict the non-tag SNPs in the other Europeans, but not in the Gambians, for this region.

* To whom correspondence should be addressed at: JDRF/WT Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust/MRC building, Addenbrooke's Hospital, Cambridge CB2 2XY, UK. Tel: +44 1223762106; Fax: +44 1223762102; Email: sergey.nejentsev{at}cimr.cam.ac.uk


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Nephrol Dial TransplantHome page
R. J. L. Martin, A. J. McKnight, C. C. Patterson, D. M. Sadlier, A. P. Maxwell, and The Warren 3/UK GoKinD Study Group
A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy
Nephrol. Dial. Transplant., September 27, 2009; (2009) gfp515v1.
[Abstract] [Full Text] [PDF]

Home page
 Cancer Epidemiol. Biomarkers Prev.Home page
S. K. Holt, E. M. Kwon, U. Peters, E. A. Ostrander, and J. L. Stanford
Vitamin D Pathway Gene Variants and Prostate Cancer Risk
Cancer Epidemiol. Biomarkers Prev., June 1, 2009; 18(6): 1929 - 1933.
[Abstract] [Full Text] [PDF]

Home page
 CSH ProtocolsHome page
P. I.W. de Bakker
Selection and Evaluation of Tag-SNPs Using Tagger and HapMap
CSH Protocols, June 1, 2009; 2009(6): pdb.ip67 - pdb.ip67.
[Abstract] [Full Text]

Home page
 J. Clin. Endocrinol. Metab.Home page
F. Jehan, C. Gaucher, T. M. Nguyen, O. Walrant-Debray, N. Lahlou, C. Sinding, M. Dechaux, and M. Garabedian
Vitamin D Receptor Genotype in Hypophosphatemic Rickets as a Predictor of Growth and Response to Treatment
J. Clin. Endocrinol. Metab., December 1, 2008; 93(12): 4672 - 4682.
[Abstract] [Full Text] [PDF]

Home page
 Mult SclerHome page
G Mamutse, J Woolmore, E Pye, J Partridge, M Boggild, C Young, A Fryer, P. Hoban, N Rukin, J Alldersea, et al.
Vitamin D receptor gene polymorphism is associated with reduced disability in multiple sclerosis
Multiple Sclerosis, November 1, 2008; 14(9): 1280 - 1283.
[Abstract] [PDF]

Home page
 Endocr. Rev.Home page
R. Bouillon, G. Carmeliet, L. Verlinden, E. van Etten, A. Verstuyf, H. F. Luderer, L. Lieben, C. Mathieu, and M. Demay
Vitamin D and Human Health: Lessons from Vitamin D Receptor Null Mice
Endocr. Rev., October 1, 2008; 29(6): 726 - 776.
[Abstract] [Full Text] [PDF]

Home page
 Poult. Sci.Home page
D. Praslickova, S. Sharif, A. Sarson, M. F. Abdul-Careem, D. Zadworny, A. Kulenkamp, G. Ansah, and U. Kuhnlein
Association of a Marker in the Vitamin D Receptor Gene with Marek's Disease Resistance in Poultry
Poult. Sci., June 1, 2008; 87(6): 1112 - 1119.
[Abstract] [Full Text] [PDF]

Home page
 Cancer Epidemiol. Biomarkers Prev.Home page
C. N. Holick, J. L. Stanford, E. M. Kwon, E. A. Ostrander, S. Nejentsev, and U. Peters
Comprehensive Association Analysis of the Vitamin D Pathway Genes, VDR, CYP27B1, and CYP24A1, in Prostate Cancer
Cancer Epidemiol. Biomarkers Prev., October 1, 2007; 16(10): 1990 - 1999.
[Abstract] [Full Text] [PDF]

Home page
 BioinformaticsHome page
F. A. Wright, H. Huang, X. Guan, K. Gamiel, C. Jeffries, W. T. Barry, F. Pardo-Manuel de Villena, P. F. Sullivan, K. C. Wilhelmsen, and F. Zou
Simulating association studies: a data-based resampling method for candidate regions or whole genome scans
Bioinformatics, October 1, 2007; 23(19): 2581 - 2588.
[Abstract] [Full Text] [PDF]

Home page
 haematolHome page
M. P. Purdue, Q. Lan, A. Kricker, C. M. Vajdic, N. Rothman, and B. K. Armstrong
Vitamin D receptor gene polymorphisms and risk of non-Hodgkin's lymphoma
Haematologica, August 1, 2007; 92(8): 1145 - 1146.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
Y. Fang, J. B. J. van Meurs, F. Rivadeneira, N. M. van Schoor, J. P. T. van Leeuwen, P. Lips, H. A. P. Pols, and A. G. Uitterlinden
Vitamin D Receptor Gene Haplotype Is Associated with Body Height and Bone Size
J. Clin. Endocrinol. Metab., April 1, 2007; 92(4): 1491 - 1501.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
J. M. Heward, O. J. Brand, J. C. Barrett, J. D. Carr-Smith, J. A. Franklyn, and S. C. Gough
Association of PTPN22 Haplotypes with Graves' Disease
J. Clin. Endocrinol. Metab., February 1, 2007; 92(2): 685 - 690.
[Abstract] [Full Text] [PDF]

Home page
 Cancer Epidemiol. Biomarkers Prev.Home page
M. S. Cicek, X. Liu, F. R. Schumacher, G. Casey, and J. S. Witte
Vitamin D Receptor Genotypes/Haplotypes and Prostate Cancer Risk
Cancer Epidemiol. Biomarkers Prev., December 1, 2006; 15(12): 2549 - 2552.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
A. Dempfle, S. A. Wudy, K. Saar, S. Hagemann, S. Friedel, A. Scherag, L. D. Berthold, G. Alzen, L. Gortner, W. F. Blum, et al.
Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies
Hum. Mol. Genet., September 15, 2006; 15(18): 2772 - 2783.
[Abstract] [Full Text] [PDF]

Home page
 Cancer Epidemiol. Biomarkers Prev.Home page
C. Sweeney, K. Curtin, M. A. Murtaugh, B. J. Caan, J. D. Potter, and M. L. Slattery
Haplotype analysis of common vitamin d receptor variants and colon and rectal cancers.
Cancer Epidemiol. Biomarkers Prev., April 1, 2006; 15(4): 744 - 749.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
A. d'Alesio, M. Garabedian, J. P. Sabatier, G. Guaydier-Souquieres, C. Marcelli, A. Lemacon, O. Walrant-Debray, and F. Jehan
Two single-nucleotide polymorphisms in the human vitamin D receptor promoter change protein-DNA complex formation and are associated with height and vitamin D status in adolescent girls
Hum. Mol. Genet., November 15, 2005; 14(22): 3539 - 3548.
[Abstract] [Full Text] [PDF]

Home page
 J. Mol. Diagn.Home page
T. Zemunik, V. Skrabic, V. Boraska, D. Diklic, I. M. Terzic, V. Capkun, M. Peruzovic, and J. Terzic
FokI Polymorphism, Vitamin D Receptor, and Interleukin-1 Receptor Haplotypes Are Associated with Type 1 Diabetes in the Dalmatian Population
J. Mol. Diagn., November 1, 2005; 7(5): 600 - 604.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
M. J. Taverna, J.-L. Selam, and G. Slama
Association between a Protein Polymorphism in the Start Codon of the Vitamin D Receptor Gene and Severe Diabetic Retinopathy in C-Peptide-Negative Type 1 Diabetes
J. Clin. Endocrinol. Metab., August 1, 2005; 90(8): 4803 - 4808.
[Abstract] [Full Text] [PDF]

Home page
 Cancer Epidemiol. Biomarkers Prev.Home page
C. Sweeney, M. A. Murtaugh, K. B. Baumgartner, T. Byers, A. R. Giuliano, J. S. Herrick, R. Wolff, B. J. Caan, and M. L. Slattery
Insulin-Like Growth Factor Pathway Polymorphisms Associated with Body Size in Hispanic and Non-Hispanic White Women
Cancer Epidemiol. Biomarkers Prev., July 1, 2005; 14(7): 1802 - 1809.
[Abstract] [Full Text] [PDF]

Home page
 Nucleic Acids ResHome page
Z. Jiang, X. Zhang, R. Deka, and L. Jin
Genome amplification of single sperm using multiple displacement amplification
Nucleic Acids Res., June 7, 2005; 33(10): e91 - e91.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
D-H Xiong, F-H Xu, P-Y Liu, H Shen, J-R Long, L Elze, R R Recker, and H-W Deng
Vitamin D receptor gene polymorphisms are linked to and associated with adult height
J. Med. Genet., March 1, 2005; 42(3): 228 - 234.
[Abstract] [Full Text] [PDF]

Home page
 DiabetesHome page
S. Nejentsev, J. D. Cooper, L. Godfrey, J. M.M. Howson, H. Rance, S. Nutland, N. M. Walker, C. Guja, C. Ionescu-Tirgoviste, D. A. Savage, et al.
Analysis of the Vitamin D Receptor Gene Sequence Variants in Type 1 Diabetes
Diabetes, October 1, 2004; 53(10): 2709 - 2712.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.