Genome-wide association study signal at the 12q12 Locus for Crohn's disease may represent associations with the MUC19 gene

Inflammatory Bowel Diseases

Volumn 19, Issue 6, 2013, Pages 1254-1259

  Kumar, Vijay ^a   Mack, David R ^b   Marcil, Valerie ^c   Israel, David ^d   Krupoves, Alfreda ^a,e   Costea, Irina ^f   Lambrette, Philippe ^a   Grimard, Guy ^a,e   Dong, Jinsong ^a   Seidman, Ernest G ^g   Amre, Devendra K ^a   Levy, Emile ^a,e  

^a UNIVERSITY OF MONTREAL   (Canada)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d BC CHILDREN S HOSPITAL   (Canada)

^e UNIVERSITÉ DE MONTRÉAL   (Canada)

^f PUBLIC HEALTH AGENCY OF CANADA   (Canada)

^g RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

Association; Children; Crohn's disease; LRRK2 gene; MUC19

Indexed keywords

ADULT; ALLELE; ARTICLE; CASE CONTROL STUDY; CHILD; CHROMOSOME 12Q; COLON DISEASE; CROHN DISEASE; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE; HUMAN; ILEUM DISEASE; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MUCIN 19 GENE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ALLELES; CASE-CONTROL STUDIES; CHILD; CHROMOSOMES, HUMAN, PAIR 12; CROHN DISEASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MUCINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; PROTEIN-SERINE-THREONINE KINASES; RISK FACTORS;

EID: 84879221281     PISSN: 10780998     EISSN: 15364844     Source Type: Journal    
DOI: 10.1097/MIB.0b013e318281f454     Document Type: Article

References (27)

1. Welcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007;447:661-678.
2. Imielinski M, Baldassano RN, Griffiths A, et al. Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet. 2009;41:1335-1340.
3. Barrett JC, Hansoul S, Nicolae DL, et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet. 2008;40:955-962.
4. Franke A, McGovern DP, Barrett JC, et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet. 2010;42:1118-1126.
5. Satake W, Nakabayashi Y, Mizuta I, et al. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet. 2009;41:1303-1307.
6. Simón-Sánchez J, Schulte C, Bras JM, et al. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet. 2009;41:1308-1312.
7. Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron. 2004;44: 601-607.
8. Plowey ED, Cherra SJ III, Liu YJ, et al. Role of autophagy in G2019S-LRRK2-associated neurite shortening in differentiated SH-SY5Y cells. J Neurochem. 2008;105:1048-1056.
9. Gardet A, Benita Y, Li C, et al. LRRK2 is involved in the IFN-gamma response and host response to pathogens. J Immunol. 2010;185: 5577-5585.
10. Moehle C, Ackermann N, Langmann T, et al. Aberrant intestinal expression and allelic variants of mucin genes associated with inflammatory bowel disease. J Mol Med (Berl). 2006;84:1055-1066.
11. Zhu L, Lee P, Yu D, et al. Cloning and characterization of human MUC19 gene. Am J Respir Cell Mol Biol. 2011;45:348-358.
12. Hoorens PR, Rinaldi M, Li RW, et al. Genome wide analysis of the bovine mucin genes and their gastrointestinal transcription profile. BMC Genomics. 2011;12:140.
13. Phillips AM, Nimmo ER, Van Limbergen J, et al. Detailed haplotypetagging study of germline variation of MUC19 in inflammatory bowel disease. Inflamm Bowel Dis. 2010;16:557-558.
14. Rivas MA, Beaudoin M, Gardet A, et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet. 2011;43:1066-1073.
15. Satsangi J, Silverberg MS, Vermiere S, et al. The Montreal classification of inflammatory bowel disease: controversies, consensus, and implications. Gut. 2006;55:749-753.
16. Amre DK, Mack DR, Morgan K, et al. Association between genome-wide association studies reported SNPs and pediatric-onset Crohn's disease in Canadian children. Hum Genet. 2010;128:131-135.
17. Amre DK, Mack DR, Morgan K, et al. Susceptibility loci reported in genome-wide association studies are associated with Crohn's disease in children. Aliment Pharmacol Ther. 2010;31:1186-1191.
18. Amre DK, Mack DR, Morgan K, et al. Autophagy gene ATG16L1 but not IRGM is associated with Crohn's disease in Canadian children. Inflamm Bowel Dis. 2009;15:501-507.
19. Amre DK, Mack DR, Morgan K, et al. Investigation of reported associations between the 20q13 and 21q22 loci and pediatric-onset Crohn's disease in Canadian children. Am J Gastroenterol. 2009;104:2824-2828.
20. Amre DK, Mack DR, Morgan K, et al. Interleukin 10 (IL-10) gene variants and susceptibility for paediatric onset Crohn's disease. Aliment Pharmacol Ther. 2009;29:1025-1031.
21. Amre DK, Mack D, Israel D, et al. Association between genetic variants in the IL-23R gene and early-onset Crohn's disease: results from a case-control and family-based study among Canadian children. Am J Gastroenterol. 2008;103:615-620.
22. Carlson CS, Eberle MA, Rieder MJ, et al. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet. 2004;74:106-120.
23. Delvin B, Roeder K, Wasserman L. Genomic control, a new approach to genetic-based association studies. Theor Popul Biol. 2001;60:155-166.
24. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4: 1073-1081.
25. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7: 248-249.
26. Buisine MP, Desreumaux P, Leteurtre E, et al. Mucin gene expression in intestinal epithelial cells in Crohn's disease. Gut. 2001;49:544-551.
27. Chen Y, Zhao YH, Kalaslavadi TB, et al. Genome-wide search and identification of a novel gel-forming mucin MUC19/Muc19 in glandular tissues. Am J Respir Cell Mol Biol. 2004;30:155-165.