Brief Article
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World J Gastroenterol. Apr 28, 2014; 20(16): 4737-4744
Published online Apr 28, 2014. doi: 10.3748/wjg.v20.i16.4737
Association between NOD2/CARD15 gene polymorphisms and Crohn's disease in Chinese Zhuang patients
Wei-Yan Long, Lan Chen, Cui-Liang Zhang, Rong-Mao Nong, Mei-Jiao Lin, Ling-Ling Zhan, Xiao-Ping Lv
Wei-Yan Long, Lan Chen, Cui-Liang Zhang, Rong-Mao Nong, Mei-Jiao Lin, Xiao-Ping Lv, Department of Gastroenterology, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi Zhuang Autonomous Region, China
Ling-Ling Zhan, Department of Clinical Experimental Medicine, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi Zhuang Autonomous Region, China
Author contributions: Long WY performed the experiments and wrote the manuscript; Zhang CL, Nong RM and Lin MJ collected samples; Chen L and Zhan LL analyzed the data and revised the manuscript; Lv XP designed the research and revised the paper.
Supported by Guangxi Graduate Education Innovation Project Fund, No.YCSZ2012035; the Natural Science Foundation of Guangxi Zhuang Autonomous Region, No. 0832009, No. 2012GXNSFAA053143; and Traditional Chinese Medicine Science Fund of Guangxi Zhuang Autonomous Region, China, No. GZPT1238
Correspondence to: Xiao-Ping Lv, Professor, Department of Gastroenterology, the First Affiliated Hospital of Guangxi Medical University, No. 6 Shuangyong Road, Nanning 530021, Guangxi Zhuang Autonomous Region, China. lxxp58@hotmail.com
Telephone: +86-771-3277211 Fax: +86-771-3277285
Received: November 2, 2013
Revised: January 6, 2014
Accepted: January 20, 2014
Published online: April 28, 2014
Abstract

AIM: To assess the relationship between the P268S, JW1 and N852S polymorphisms and Crohn’s disease (CD) susceptibility in Zhuang patients in Guangxi, China.

METHODS: Intestinal tissues from 102 Zhuang [48 CD and 54 ulcerative colitis (UC)] and 100 Han (50 CD and 50 UC) unrelated patients with inflammatory bowel disease and 72 Zhuang and 78 Han unrelated healthy individuals were collected in the Guangxi Zhuang Autonomous Region from January 2009 to March 2013. Genomic DNA was extracted using the phenol chloroform method. The P268S, JW1 and N852S polymorphisms were amplified using polymerase chain reaction (PCR), detected by restriction fragment length polymorphism (RFLP), and verified by gene sequencing.

RESULTS: Heterozygous mutation of P268S in the NOD2/CARD15 gene was detected in 10 CD cases (six Zhuang and four Han), two Han UC cases, and one Zhuang healthy control, and P268S was strongly associated with the Chinese Zhuang and Han CD populations (P = 0.016 and 0.022, respectively). No homozygous mutant P268S was detected in any of the groups. No significant difference was found in P268S genotype and allele frequencies between UC and control groups (P > 0.05). Patients with CD who carried P268S were likely to be ≤ 40 years of age (P = 0.040), but were not significantly different with regard to race, lesion site, complications, and other clinical features (P > 0.05). Neither JW1 nor N852S polymorphisms of the NOD2/CARD15 gene were found in any of the subjects (P > 0.05).

CONCLUSION: P268S polymorphism may be associated with CD susceptibility in the Zhuang population in the Guangxi Zhuang Autonomous Region, China. In contrast, JW1 and N852S polymorphisms may not be related to CD susceptibility in these patients.

Keywords: Crohn’s disease, NOD2/CARD15, Single nucleotide polymorphisms

Core tip: In this study, P268S, JW1 and N852S polymorphisms of the NOD2/CARD15 gene were genotyped using the PCR-RFLP method and gene sequencing, and the presence of P268S in Guangxi Zhuang Crohn’s disease patients was identified. However, no JW1 or N852S mutants were found in this cohort.