Distinct genetic association at the PLCE1 locus with oesophageal squamous cell carcinoma in the South African population

Carcinogenesis

Volumn 33, Issue 11, 2012, Pages 2155-2161

  Bye, Hannah ^a   Prescott, Natalie J ^a   Lewis, Cathryn M ^a   Matejcic, Marco ^b   Moodley, Loven ^b   Robertson, Barbara ^b   van Rensburg, Christo ^c   Parker, M Iqbal ^b   Mathew, Christopher G ^a  

^a GUY S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

^c STELLENBOSCH UNIVERSITY   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; LEUCINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; C20ORF54 GENE; CHINESE; CONTROLLED STUDY; ESOPHAGEAL SQUAMOUS CELL CARCINOMA; FEMALE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PDEA4D GENE; PLCE1 GENE; PREVALENCE; PRIORITY JOURNAL; RISK REDUCTION; RUNX1 GENE; SOUTH AFRICA; UNC5CL GENE;

CARCINOMA, SQUAMOUS CELL; CASE-CONTROL STUDIES; CORE BINDING FACTOR ALPHA 2 SUBUNIT; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 3; DNA; ESOPHAGEAL NEOPLASMS; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; NEOPLASM STAGING; PHOSPHOINOSITIDE PHOSPHOLIPASE C; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; REAL-TIME POLYMERASE CHAIN REACTION; RISK FACTORS; SOUTH AFRICA;

EID: 84868623103     PISSN: 01433334     EISSN: 14602180     Source Type: Journal    
DOI: 10.1093/carcin/bgs262     Document Type: Article

References (32)

1. Ferlay, J. et al. (2010) Estimates of worldwide burden of cancer in 2008 GLOBOCAN 2008. Int. J. Cancer, 127, 2893-2917
2. Jemal, A. et al. (2012) Cancer burden in Africa and opportunities for prevention. Cancer, doi: 10.1002/cncr.27410. [Epub ahead of print.]
3. Somdyala, N.I. et al. (2010) Cancer incidence in a rural population of South Africa, 1998-2002. Int. J. Cancer, 127, 2420-2429.
4. Hendricks, D. et al. (2002) Oesophageal cancer in Africa. IUBMB Life, 53, 263-268.
5. Li, D. et al. (2010) The 341C/T polymorphism in the GSTP1 gene is associated with increased risk of oesophageal cancer. BMC Genet., 11, 47.
6. Dandara, C. et al. (2005) CYP3A5 genotypes and risk of oesophageal cancer in two South African populations. Cancer Lett., 225, 275-282.
7. Li, D. et al. (2005) Association of cytochrome P450 2E1 genetic polymorphisms with squamous cell carcinoma of the oesophagus. Clin. Chem. Lab. Med., 43, 370-375.
8. de Wit, E. et al. (2010) Genome-wide analysis of the structure of the South African Coloured Population in the Western Cape. Hum. Genet., 128, 145-153.
9. Matejcic, M. et al. (2011) Association of a deletion of GSTT2B with an altered risk of oesophageal squamous cell carcinoma in a South African population: a case-control study. PLoS ONE, 6, e29366.
10. Bye, H. et al. (2011) Population-specific genetic associations with oesophageal squamous cell carcinoma in South Africa. Carcinogenesis, 32, 1855-1861.
11. Cui, R. et al. (2009) Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. Gastroenterology, 137, 1768-1775.
12. Abnet, C.C. et al. (2010) A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. Nat. Genet., 42, 764-767.
13. Wang, L.D. et al. (2010) Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54. Nat. Genet., 42, 759-763.
14. Wu, C. et al. (2011) Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. Nat. Genet., 43, 679-684.
15. Rozen, S. et al. (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol. Biol., 132, 365-386.
16. Bonfield, J.K. et al. (1995) A new DNA sequence assembly program. Nucleic Acids Res., 23, 4992-4999.
17. Adzhubei, I.A. et al. (2010) A method and server for predicting damaging missense mutations. Nat. Methods, 7, 248-249.
18. Kumar, P. et al. (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc., 4, 1073-1081.
19. Barrett, J.C. et al. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 21, 263-265.
20. Dudbridge, F. (2008) Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data. Hum. Hered., 66, 87-98.
21. Teo, Y.Y. et al. (2010) Methodological challenges of genome-wide association analysis in Africa. Nat. Rev. Genet., 11, 149-160.
22. Bunney, T.D. et al. (2010) Phosphoinositide signalling in cancer: beyond PI3K and PTEN. Nat. Rev. Cancer, 10, 342-352.
23. Hu, H. et al. (2012) Putatively functional PLCE1 variants and susceptibility to esophageal squamous cell carcinoma (ESCC): a case-control study in Eastern Chinese populations. Ann. Surg. Oncol., 19, 2403-2410.
24. Bourguignon, L.Y. et al. (2006) Hyaluronan-CD44 interaction with leukemia-associated RhoGEF and epidermal growth factor receptor promotes Rho/Ras co-activation, phospholipase C epsilon-Ca2+ signaling, and cytoskeleton modification in head and neck squamous cell carcinoma cells. J. Biol. Chem., 281, 14026-14040.
25. Khor, C.C. et al. (2011) Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1. Nat. Genet., 43, 1139-1141.
26. Hinkes, B. et al. (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat. Genet., 38, 1397-1405.
27. Johmura, Y. et al. (2008) FAD24, a regulator of adipogenesis, is required for the regulation of DNA replication in cell proliferation. Biol. Pharm. Bull., 31, 1092-1095.
28. Johmura, Y. et al. (2008) FAD24, a regulator of adipogenesis and DNA replication, inhibits H-RAS-mediated transformation by repressing NF-kappaB activity. Biochem. Biophys. Res. Commun., 369, 464-470.
29. Mendes-Pereira, A.M. et al. (2012) Genome-wide functional screen identifies a compendium of genes affecting sensitivity to tamoxifen. Proc. Natl. Acad. Sci. U.S.A., 109, 2730-2735.
30. Sauna, Z.E. et al. (2007) Silent polymorphisms speak: how they affect pharmacogenomics and the treatment of cancer. Cancer Res., 67, 9609-9612.
31. Cooper, G.M. et al. (2011) Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat. Rev. Genet., 12, 628-640.
32. Mathew, C.G. (2008) New links to the pathogenesis of Crohn disease provided by genome-wide association scans. Nat. Rev. Genet., 9, 9-14.