Single-nucleotide polymorphisms in the interleukin-10 gene: Differences in frequencies, linkage disequilibrium patterns, and haplotypes in three United States ethnic groups

Genomics

Volumn 80, Issue 2, 2002, Pages 223-228

  Lazarus, Ross ^a,b   Klimecki, Walter T ^c   Palmer, Lyle J ^a,d   Kwiatkowski, David J ^a   Silverman, Edwin K ^a   Brown, Alison ^a   Martinez, Fernando ^c   Weiss, Scott T ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY OF ARIZONA   (United States)

^d CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

Haplotype; IL 10; Interleukin 10; Linkage disquilibrium; Self identified race; SNP

Indexed keywords

AMINO ACID; DNA; INTERLEUKIN 10;

ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA FLANKING REGION; ETHNIC GROUP; EXON; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; POPULATION RESEARCH; PRIORITY JOURNAL; SAMPLING; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED STATES;

EID: 0036990311     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.2002.6820     Document Type: Article

References (26)

1. de Waal Malefyt, R., Abrams, J., Bennett, B., Figdor, C., and de Vries, J. (1991). Interleukin 10 (IL-10) inhibits cytokine synthesis by human monocytes: an autoregulatory role of IL-10 produced by monocytes. J. Exp. Med. 174: 1209-1220.
2. Eskdale, J., Kube, D., Tesch, H., and Gallagher, G. (1997). Mapping of the human IL10 gene and further characterization of the 5′ flanking sequence. Immunogenetics 46: 120-128.
3. Westendorp, R. G. J., et al. (1997). Genetic influence on cytokine production and fatal meningococcal disease. Lancet 349: 170-173.
4. Borish, L., et al. (1997). Interleukin-10 regulation in normal and asthmatic subjects. J. Allergy Clin. Immun. 97: 1288-1296.
5. Lim, S., Crawley, E., Woo, P., and Barnes, P. J. (1998). Haplotype associated with low interleukin 10 production in patients with severe asthma. Lancet 352: 113.
6. Umetsu, D. T., and DeKruyff, R. H. (1999). Interleukin 10. The missing link in asthma regulation? Am. J. Resp. Cell. Mol. Biol. 21: 562-563.
7. Gibson, A. W., et al. (2001). Novel single nucleotide polymorphisms in the distal IL-10 promoter affect IL-10 production and enhance the risk of systemic lupus erythematosus. J. Immunol. 166: 3915-3922.
8. Kaluza, W., et al. (2001). IL10.G microsatellites mark promoter haplotypes associated with protection against the development of reactive arthritis in Finnish patients. Arthritis Rheum. 44: 1209-1214.
9. Reich, D. E., et al. (2001). Linkage disequilibrium in the human genome. Nature 411: 199-204.
10. Stephens, M., Smith, N. J., and Donnelly, P. (2001). A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet. 68: 978-989.
11. Stephens, M., and Li, M. (2001). Phase. Department of Statistics, University of Washington, Seattle, WA, http://www.assertion.net/software/.
12. Cargill, M., et al. (1999). Characterization of single nucleotide polymorphisms in coding regions of human genes. Nat. Genet. 22: 231-238.
13. Halushka, M. K., et al. (1999). Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat. Genet. 22: 239-247.
14. Goddard, K., Hopkins, P. J., Hall, J. M., and Witte, J. S. (2000). Linkage disequilibrium and allele frequency distributions for 114 single-nucleotide polymorphisms in five populations. Am. J. Hum. Genet. 66: 216-234.
15. Turner, D. M., et al. (1997). An investigation of polymorphisms in the Interleukin-10 promoter. Eur. J. Immunogen. 24: 1-8.
16. D'Alfonso, S., Rampi, M., Rolando, V., Giordano, M., and Momigliano-Richiardi, P. (2001). New polymorphisms in the IL-10 promoter region. Genes Immun. 1: 231-233.
17. Donger, C., et al. (2001). New polymorphisms in the interleukin-10 gene - relationships to myocardial infarction. Eur. J. Clin. Invest. 31: 9-14.
18. Grove, J., Bassendine, A. K., Gilvary, E., and Day, C. P. (2000). Interleukin 10 promoter region polymorphisms and susceptibility to advanced alcoholic liver disease. Gut 46: 540-545.
19. Stirling, R. G., and Chung, K. F. (2000). New immunological approaches and cytokine targets in asthma and allergy. Eur. Respir. J. 16: 1158-1174.
20. Rozen, S., and Skaletsky, H. J. (1998). Primer 3. Whitehead Institute, Boston, MA.
21. Green, P., Ewing, B., and Gordon, D. (2001). Phred, Phrap and Consed. University of Washington Genome Center, Seattle, WA, http://www.phrap.org/.
22. Nickerson, D. A., Kolker, N., and Taylor, S. (2001). PolyPhred. University of Washington, Seattle, WA, http://droog.mbt.washington.edu/PolyPhred.html.
23. Statistical Analysis System (2000). SAS PC, version 8. SAS Institute, Carey, NC, http://www.sas.com.
24. Schneider, S., Roessli, D., and Excoffier, L. (2000). Arlequin version 2.000, Software for population genetics data analysis. Genetics and Biometry Laboratory, Department of Anthropology, University of Geneva, http://lgb.unige.ch/arlequin/.
25. Guo, S. W., and Thompson, E. A. (1992). Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 48: 361-372.
26. Slatkin, M., and Excoffier, L. (1996). Testing for linkage disequilibrium in genotypic data using the Expectation-Maximization algorithm. Heredity 76: 377-383.