Characterisation of genome-wide association epistasis signals for serum uric acid in human population isolates

PLoS ONE

Volumn 6, Issue 8, 2011, Pages

  Wei, Wenhua ^a   Hemani, Gibran ^b   Hicks, Andrew A ^c,g   Vitart, Veronique ^a   Cabrera Cardenas, Claudia ^a   Navarro, Pau ^a   Huffman, Jennifer ^a   Hayward, Caroline ^a   Knott, Sara A ^d   Rudan, Igor ^d,e   Pramstaller, Peter P ^c,f,g   Wild, Sarah H ^d   Wilson, James F ^d   Campbell, Harry ^d   Dunlop, Malcolm G ^a   Hastie, Nicholas ^a   Wright, Alan F ^a   Haley, Chris S ^a,b  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c INSTITUTE FOR RENEWABLE ENERGY   (Italy)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e UNIVERSITY OF SPLIT   (Croatia)

^f General Central Hospital   (Italy)

^g UNIVERSITY OF LÜBECK   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

URIC ACID; ERRALPHA ESTROGEN RELATED RECEPTOR; ERRALPHA ESTROGEN-RELATED RECEPTOR; ESTROGEN RECEPTOR; GLUCOSE TRANSPORTER; NFIA PROTEIN, HUMAN; NUCLEAR FACTOR I; SLC2A9 PROTEIN, HUMAN;

ARTICLE; BASE PAIRING; COHORT ANALYSIS; CONTROLLED STUDY; DNA REPLICATION; ETHNIC DIFFERENCE; ETHNICITY; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC EPISTASIS; GENETIC REGULATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; PHENOTYPIC VARIATION; SIGNAL PROCESSING; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; URIC ACID BLOOD LEVEL; BLOOD; CROATIA; GENETICS; ITALY; NEUROLOGIC DISEASE;

CROATIA; EPISTASIS, GENETIC; GENOME-WIDE ASSOCIATION STUDY; GLUCOSE TRANSPORT PROTEINS, FACILITATIVE; HUMANS; ITALY; NERVOUS SYSTEM DISEASES; NFI TRANSCRIPTION FACTORS; RECEPTORS, ESTROGEN; SIGNAL TRANSDUCTION; URIC ACID;

EID: 80051837286     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0023836     Document Type: Article

References (56)

1. Heinig M, Johnson RJ, (2006) Role of uric acid in hypertension, renal disease, and metabolic syndrome. Cleve Clin J Med 73: 1059-1064.
2. Hooper DC, Spitsin S, Kean RB, Champion JM, Dickson GM, et al. (1998) Uric acid, a natural scavenger of peroxynitrite, in experimental allergic encephalomyelitis and multiple sclerosis. Proc Natl Acad Sci U S A 95: 675-680.
3. Spitsin S, Koprowski H, (2008) Role of uric acid in multiple sclerosis. Curr Top Microbiol Immunol 318: 325-342.
4. Doherty M, (2009) New insights into the epidemiology of gout. Rheumatology 48: ii2-ii8.
5. Dehghan A, van Hoek M, Sijbrands EJ, Hofman A, Witteman JC, (2008) High serum uric acid as a novel risk factor for type 2 diabetes. Diabetes Care 31: 361-362.
6. Annanmaki T, Pessala-Driver A, Hokkanen L, Murros K, (2008) Uric acid associates with cognition in Parkinson's disease. Parkinsonism & related disorders 14: 576-578.
7. Facheris MF, Hicks AA, Minelli C, Hagenah JM, Kostic V, et al. (2011) Variation in the Uric Acid Transporter Gene SLC2A9 and Its Association with AAO of Parkinson's Disease. J Mol Neurosci 43: 246-250.
8. Roddy E, Zhang W, Doherty M, (2007) The changing epidemiology of gout. Nat Clin Pract Rheumatol 3: 443-449.
9. Whitfield JB, Martin NG, (1983) Inheritance and alcohol as factors influencing plasma uric acid levels. Acta Genet Med Gemellol (Roma) 32: 117-126.
10. Doring A, Gieger C, Mehta D, Gohlke H, Prokisch H, et al. (2008) SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. Nat Genet 40: 430-436.
11. Kolz M, Johnson T, Sanna S, Teumer A, Vitart V, et al. (2009) Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genetics 5: e1000504.
12. Vitart V, Rudan I, Hayward C, Gray NK, Floyd J, et al. (2008) SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nature Genetics 40: 437-442.
13. Eichler EE, Flint J, Gibson G, Kong A, Leal SM, et al. (2010) Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet 11: 446-450.
14. Gibson G, (2010) Hints of hidden heritability in GWAS. Nat Genet 42: 558-560.
15. Wei WH, Knott S, Haley CS, de Koning DJ, (2010) Controlling false positives in the mapping of epistatic QTL. Heredity 104: 401-409.
16. Ma L, Yang J, Runesha HB, Tanaka T, Ferrucci L, et al. (2010) Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data. BMC Med Genet 11: 55.
17. Schupbach T, Xenarios I, Bergmann S, Kapur K, (2010) FastEpistasis: a high performance computing solution for quantitative trait epistasis. Bioinformatics 26: 1468-1469.
18. Pattaro C, Marroni F, Riegler A, Mascalzoni D, Pichler I, et al. (2007) The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives. BMC Med Genet 8: 29.
19. Lam AC, Powell J, Wei WH, de Koning DJ, Haley CS, (2009) A combined strategy for quantitative trait loci detection by genome-wide association. BMC Proc 3 (Suppl 1): S6.
20. Vitart V, Biloglav Z, Hayward C, Janicijevic B, Smolej-Narancic N, et al. (2006) 3000 years of solitude: Extreme differentiation in the island isolates of Dalmatia, Croatia. European Journal of Human Genetics 14: 478-487.
21. Polasek O, Marusic A, Rotim K, Hayward C, Vitart V, et al. (2009) Genome-wide association study of anthropometric traits in Korcula Island, Croatia. Croat Med J 50: 7-16.
22. Tenesa A, Farrington SM, Prendergast JGD, Porteous ME, Walker M, et al. (2008) Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nature Genetics 40: 631-637.
23. Eden E, Navon R, Steinfeld I, Lipson D, Yakhini Z, (2009) GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists. BMC Bioinformatics 10: 48.
24. Aulchenko YS, Ripke S, Isaacs A, van Duijn CM, (2007) GenABEL: an R library for genome-wide association analysis. Bioinformatics 23: 1294-1296.
25. Aulchenko YS, de Koning DJ, Haley C, (2007) Genomewide rapid association using mixed model and regression: a fast and simple method for genomewide pedigree-based quantitative trait loci association analysis. Genetics 177: 577-585.
26. McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, et al. (2008) Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 9: 356-369.
27. VanderWeele TJ, (2010) Epistatic interactions. Stat Appl Genet Mol Biol 9: Article 1.
28. Jannink JL, Jansen R, (2001) Mapping epistatic quantitative trait loci with one-dimensional genome searches. Genetics 157: 445-454.
29. Kooperberg C, Leblanc M, (2008) Increasing the power of identifying gene x gene interactions in genome-wide association studies. Genet Epidemiol 32: 255-263.
30. Marsglia G, Tsang WW, Wang J, (2003) Evaluating Kolmogorov's distribution. Journal of Statistical Software 8: 1-4.
31. Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, et al. (2009) Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A 106: 9362-9367.
32. Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, et al. (2007) NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet 3: e80.
33. Dubois PC, Trynka G, Franke L, Hunt KA, Romanos J, et al. (2010) Multiple common variants for celiac disease influencing immune gene expression. Nat Genet 42: 295-302.
34. Sotoodehnia N, Isaacs A, de Bakker PI, Dorr M, Newton-Cheh C, et al. (2010) Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet 42: 1068-1076.
35. Brandstatter A, Kiechl S, Kollerits B, Hunt SC, Heid IM, et al. (2008) Sex-specific association of the putative fructose transporter SLC2A9 variants with uric acid levels is modified by BMI. Diabetes Care 31: 1662-1667.
36. Brandstatter A, Lamina C, Kiechl S, Hunt SC, Coassin S, et al. (2010) Sex and age interaction with genetic association of atherogenic uric acid concentrations. Atherosclerosis 210: 474-478.
37. Jeroncic I, Mulic R, Klismanic Z, Rudan D, Boban M, et al. (2010) Interactions between genetic variants in glucose transporter type 9 (SLC2A9) and dietary habits in serum uric acid regulation. Croat Med J 51: 40-47.
38. Guan M, Zhou D, Ma W, Chen Y, Zhang J, et al. (2011) Association of an intronic SNP of SLC2A9 gene with serum uric acid levels in the Chinese male Han population by high-resolution melting method. Clin Rheumatol 30: 29-35.
39. Hollis-Moffatt JE, Xu X, Dalbeth N, Merriman ME, Topless R, et al. (2009) Role of the urate transporter SLC2A9 gene in susceptibility to gout in New Zealand Maori, Pacific Island, and Caucasian case-control sample sets. Arthritis Rheum 60: 3485-3492.
40. Rule AD, de Andrade M, Matsumoto M, Mosley TH, Kardia S, et al. (2011) Association between SLC2A9 transporter gene variants and uric acid phenotypes in African American and white families. Rheumatology (Oxford) 50: 871-878.
41. Wright AF, Rudan I, Hastie ND, Campbell H, (2010) A 'complexity' of urate transporters. Kidney Int 78: 446-452.
42. Houlihan LM, Wyatt ND, Harris SE, Hayward C, Gow AJ, et al. (2010) Variation in the uric acid transporter gene (SLC2A9) and memory performance. Human Molecular Genetics 19: 2321-2330.
43. Schretlen DJ, Inscore AB, Vannorsdall TD, Kraut M, Pearlson GD, et al. (2007) Serum uric acid and brain ischemia in normal elderly adults. Neurology 69: 1418-1423.
44. Vannorsdall TD, Jinnah HA, Gordon B, Kraut M, Schretlen DJ, (2008) Cerebral Ischemia Mediates the Effect of Serum Uric Acid on Cognitive Function. Stroke 39: 3418-3420.
45. Madden DR, (2002) The structure and function of glutamate receptor ion channels. Nat Rev Neurosci 3: 91-101.
46. Markowitz AJ, White MG, Kolson DL, Jordan-Sciutto KL, (2007) Cellular interplay between neurons and glia: toward a comprehensive mechanism for excitotoxic neuronal loss in neurodegeneration. Cellscience 4: 111-146.
47. Du Y, Chen CP, Tseng C-Y, Eisenberg Y, Firestein BL, (2007) Astroglia-mediated effects of uric acid to protect spinal cord neurons from glutamate toxicity. Glia 55: 463-472.
48. Moore JH, Williams SM, (2009) Epistasis and its implications for personal genetics. Am J Hum Genet 85: 309-320.
49. Hoffjan S, Akkad DA, (2010) The genetics of multiple sclerosis: an update 2010. Mol Cell Probes 24: 237-243.
50. Lorentzen AR, Melum E, Ellinghaus E, Smestad C, Mero IL, et al. (2010) Association to the Glypican-5 gene in multiple sclerosis. J Neuroimmunol 226: 194-197.
51. Nischwitz S, Cepok S, Kroner A, Wolf C, Knop M, et al. (2011) More CLEC16A gene variants associated with multiple sclerosis. Acta Neurol Scand 123: 400-406.
52. Mero IL, Ban M, Lorentzen AR, Smestad C, Celius EG, et al. (2011) Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus. Genes Immun 12: 191-198.
53. Gauderman WJ, (2002) Sample size requirements for association studies of gene-gene interaction. Am J Epidemiol 155: 478-484.
54. Wu X, Dong H, Luo L, Zhu Y, Peng G, et al. (2010) A Novel Statistic for Genome-Wide Interaction Analysis. PLoS Genet 6: e1001131.
55. Dudbridge F, Gusnanto A, (2008) Estimation of significance thresholds for genomewide association scans. Genet Epidemiol 32: 227-234.
56. Wang K, Li M, Hakonarson H, (2010) Analysing biological pathways in genome-wide association studies. Nat Rev Genet 11: 843-854.