Prevalence of SLC22A4 1672T and SLC22A5 -207C Combination Defined TC Haplotype in Hungarian Ulcerative Colitis Patients

Overview

Journal Pathol Oncol Res

Specialty Oncology

Date 2007 Mar 28

PMID 17387389

Citations 4

Authors

Lili Magyari

Judit Bene

Katalin Komlosi

Gabor Talian

Bernadett Farago

Veronika Csongei

Luca Jaromi

Eniko Safrany

Csilla Sipeky

Lilla Lakner

Marta Varga

Beata Gasztonyi

Bela Melegh

Affiliations

Soon will be listed here.

Abstract

Ulcerative colitis (UC) is a chronic inflammatory disease of the gastrointestinal tract. The aim of this study was to verify the prevalence rate of the haplotype called TC, determined by combination of two functional alleles of OCTN cation transporter genes (SLC22A4 1672T and SLC22A5 -207C combination variants) in ulcerative colitis patients and unrelated healthy controls. The "TC haplotype" has recently been suggested to confer risk for UC. A total of 121 unrelated Hungarian subjects with UC and 110 matched controls were genotyped for the two single nucleotide polymorphisms. The genotypes were determined by using PCR/RFLP assay and direct sequencing. The SLC22A4 1672T allele frequency was 46.7% in the patients with UC and 46.4% in the controls, whereas the SLC22A5 -207C allele occurred in 48.8% of the patients and 51.4% of the controls. The prevalence of the TC haplotype was 19% in the patient group and 22.7% in controls. Since there was no accumulation of the TC haplotype in the patient group, our observation suggests that carrying the TC haplotype is not associated with a higher risk for UC in the Hungarian population.

Citing Articles

Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions.

Sarlos P, Varszegi D, Csongei V, Magyari L, Jaromi L, Nagy L World J Gastroenterol. 2014; 20(1):219-27.

PMID: 24415875 PMC: 3886011. DOI: 10.3748/wjg.v20.i1.219.

Contribution of the IBD5 locus to inflammatory bowel disease: a meta-analysis.

Wang J, Wang X, Yang H, Wu D, Wang L, Qian J Hum Genet. 2011; 129(6):597-609.

PMID: 21279723 DOI: 10.1007/s00439-011-0952-6.

Xenobiotic, bile acid, and cholesterol transporters: function and regulation.

Klaassen C, Aleksunes L Pharmacol Rev. 2010; 62(1):1-96.

PMID: 20103563 PMC: 2835398. DOI: 10.1124/pr.109.002014.

IGR2096a_1 T and IGR2198a_1 C alleles on IBD5 locus of chromosome 5q31 region confer risk for Crohn's disease in Hungarian patients.

Lakner L, Csongei V, Sarlos P, Jaromi L, Safrany E, Varga M Int J Colorectal Dis. 2009; 24(5):503-7.

PMID: 19214536 DOI: 10.1007/s00384-009-0670-x.

References

Siminovitch K . Advances in the molecular dissection of inflammatory bowel disease. Semin Immunol. 2006; 18(4):244-53. DOI: 10.1016/j.smim.2006.03.012. View

Eaden J, Abrams K, Mayberry J . The risk of colorectal cancer in ulcerative colitis: a meta-analysis. Gut. 2001; 48(4):526-35. PMC: 1728259. DOI: 10.1136/gut.48.4.526. View

Torok H, Glas J, Tonenchi L, Lohse P, Muller-Myhsok B, Limbersky O . Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease. Gut. 2005; 54(10):1421-7. PMC: 1774699. DOI: 10.1136/gut.2005.066340. View

Satsangi J, Jewell D, Parkes M, Bell J . Genetics of inflammatory bowel disease. A personal view on progress and prospects. Dig Dis. 1999; 16(6):370-4. DOI: 10.1159/000016894. View

Russell R, Drummond H, Nimmo E, Anderson N, Noble C, WILSON D . Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth indices in early onset inflammatory bowel disease. Gut. 2006; 55(8):1114-23. PMC: 1856267. DOI: 10.1136/gut.2005.082107. View

Machida H, Tsukamoto K, Wen C, Narumi Y, Shikuwa S, Isomoto H . Association of polymorphic alleles of CTLA4 with inflammatory bowel disease in the Japanese. World J Gastroenterol. 2005; 11(27):4188-93. PMC: 4615440. DOI: 10.3748/wjg.v11.i27.4188. View

Leung E, Hong J, Fraser A, Merriman T, Vishnu P, Krissansen G . Polymorphisms in the organic cation transporter genes SLC22A4 and SLC22A5 and Crohn's disease in a New Zealand Caucasian cohort. Immunol Cell Biol. 2006; 84(2):233-6. DOI: 10.1111/j.1440-1711.2006.01423.x. View

Medici V, Mascheretti S, Croucher P, Stoll M, Hampe J, Grebe J . Extreme heterogeneity in CARD15 and DLG5 Crohn disease-associated polymorphisms between German and Norwegian populations. Eur J Hum Genet. 2006; 14(4):459-68. DOI: 10.1038/sj.ejhg.5201576. View

Urcelay E, Mendoza J, Martinez A, Fernandez L, Taxonera C, Diaz-Rubio M . IBD5 polymorphisms in inflammatory bowel disease: association with response to infliximab. World J Gastroenterol. 2005; 11(8):1187-92. PMC: 4250711. DOI: 10.3748/wjg.v11.i8.1187. View

10.

Palmieri O, Latiano A, Valvano R, DInca R, Vecchi M, Sturniolo G . Variants of OCTN1-2 cation transporter genes are associated with both Crohn's disease and ulcerative colitis. Aliment Pharmacol Ther. 2006; 23(4):497-506. DOI: 10.1111/j.1365-2036.2006.02780.x. View

11.

Bonen D, Cho J . The genetics of inflammatory bowel disease. Gastroenterology. 2003; 124(2):521-36. DOI: 10.1053/gast.2003.50045. View

12.

Mahid S, Minor K, Soto R, Hornung C, Galandiuk S . Smoking and inflammatory bowel disease: a meta-analysis. Mayo Clin Proc. 2006; 81(11):1462-71. DOI: 10.4065/81.11.1462. View

13.

Silverberg M . OCTNs: will the real IBD5 gene please stand up?. World J Gastroenterol. 2006; 12(23):3678-81. PMC: 4087460. DOI: 10.3748/wjg.v12.i23.3678. View

14.

Bene J, Komlosi K, Havasi V, Talian G, Gasztonyi B, Horvath K . Changes of plasma fasting carnitine ester profile in patients with ulcerative colitis. World J Gastroenterol. 2006; 12(1):110-3. PMC: 4077497. DOI: 10.3748/wjg.v12.i1.110. View

15.

Giallourakis C, Stoll M, Miller K, Hampe J, Lander E, Daly M . IBD5 is a general risk factor for inflammatory bowel disease: replication of association with Crohn disease and identification of a novel association with ulcerative colitis. Am J Hum Genet. 2003; 73(1):205-11. PMC: 1180582. DOI: 10.1086/376417. View

16.

Gazouli M, Mantzaris G, Archimandritis A, Nasioulas G, Anagnou N . Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn's disease. World J Gastroenterol. 2006; 11(47):7525-30. PMC: 4725165. DOI: 10.3748/wjg.v11.i47.7525. View

17.

Jantchou P, Monnet E, Carbonnel F . [Environmental risk factors in Crohn's disease and ulcerative colitis (excluding tobacco and appendicectomy)]. Gastroenterol Clin Biol. 2006; 30(6-7):859-67. DOI: 10.1016/s0399-8320(06)73333-4. View

18.

Noble C, Nimmo E, Drummond H, Ho G, Tenesa A, Smith L . The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease. Gastroenterology. 2005; 129(6):1854-64. DOI: 10.1053/j.gastro.2005.09.025. View

19.

Waller S, Tremelling M, Bredin F, Godfrey L, Howson J, Parkes M . Evidence for association of OCTN genes and IBD5 with ulcerative colitis. Gut. 2005; 55(6):809-14. PMC: 1856215. DOI: 10.1136/gut.2005.084574. View

20.

Martinez A, Del Carmen Martin M, Mendoza J, Taxonera C, Diaz-Rubio M, de la Concha E . Association of the organic cation transporter OCTN genes with Crohn's disease in the Spanish population. Eur J Hum Genet. 2005; 14(2):222-6. DOI: 10.1038/sj.ejhg.5201529. View