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©2014 Baishideng Publishing Group Co.
World J Gastroenterol. Apr 28, 2014; 20(16): 4737-4744
Published online Apr 28, 2014. doi: 10.3748/wjg.v20.i16.4737
Published online Apr 28, 2014. doi: 10.3748/wjg.v20.i16.4737
Table 1 Polymerase chain reaction primers, annealing temperatures and polymerase chain reaction fragment sizes
Mutation | Primer | Annealing temperature (°C) | PCR fragment size (bp) |
P268S | F-TGCCTCTTCTTCTGCCTTCC | 60 | 422 |
R-AGTAGAGTCCGCACAGAGAG | |||
JW1 | F-TGCAGTTTTCTTGGGGAGAT | 59 | 220 |
R-TGTACCTGATCCAGCCCAAT | |||
N852S | F-CTGTTTGCATGATGGGGGG | 55 | 151 |
R-CAGCCGTCAGTCAATTTGTAG |
Table 2 Enzymes and gene polymorphism analysis
Mutation | Base change | Enzyme | Restriction fragment size (bp) | |
Wild-type | Mutant | |||
P268S | C→T | BamHI | 422 | Heterozygote 422 + 247 + 175 |
Homozygote 247 + 175 | ||||
JW1 | C→T | XhoI | 125 + 95 | Heterozygote 220 + 125 + 95 |
Homozygote 220 | ||||
N852S | A→G | AluI | 151 | Heterozygote 151 + 129 + 22 |
Homozygote 129 + 22 |
Table 3 Distribution of genotype and allele frequencies of mutations in Crohn’s disease and ulcerative colitis patients compared with healthy controls in the Guangxi Zhuang population n (%)
Mutant | Genotype | Allele | Control | CD | UC | ||
P value | P value | ||||||
P268S | aP1 | NS1 | |||||
CC | 71 (98.6) | 42 (87.5) | 54 (100.0) | ||||
CT | 1 (1.4) | 6 (12.5) | 0 (0.0) | ||||
TT | 0 (0.0) | 0 (0.0) | 0 (0.0) | ||||
T | 1 (0.7) | 6 (6.2) | cP2 | 0 (0.0) | NS2 | ||
JW1 | NS1 | NS1 | |||||
CC | 72 (100.0) | 48 (100.0) | 54 (100.0) | ||||
CT | 0 (0.0) | 0 (0.0) | 0 (0.0) | ||||
TT | 0 (0.0) | 0 (0.0) | 0 (0.0) | ||||
T | 0 (0.0) | 0 (0.0) | NS2 | 0 (0.0) | NS2 | ||
N852S | NS1 | NS1 | |||||
AA | 72 (100.0) | 48 (100.0) | 54 (100.0) | ||||
AG | 0 (0.0) | 0 (0.0) | 0 (0.0) | ||||
GG | 0 (0.0) | 0 (0.0) | 0 (0.0) | ||||
G | 0 (0.0) | 0 (0.0) | NS2 | 0 (0.0) | NS2 |
Table 4 Distribution of genotype and allele frequencies of mutations in Crohn’s disease and ulcerative colitis patients compared with healthy controls in the Guangxi Han population n (%)
Mutant | Genotype | Allele | Control | CD | UC | ||
P value | P value | ||||||
P268S | bP1 | NS1 | |||||
CC | 78 (100.0) | 46 (92.0) | 48 (96.0) | ||||
CT | 0 (0.0) | 4 (8.0) | 2 (4.0) | ||||
TT | 0 (0.0) | 0 (0.0) | 0 (0.0) | ||||
T | 0 (0.0) | 4 (4.0) | dP2 | 2 (2.0) | NS2 | ||
JW1 | NS1 | NS1 | |||||
CC | 78 (100.0) | 50 (100.0) | 50 (100.0) | ||||
CT | 0 (0.0) | 0 (0.0) | 0 (0.0) | ||||
TT | 0 (0.0) | 0 (0.0) | 0 (0.0) | ||||
T | 0 (0.0) | 0 (0.0) | NS2 | 0 (0.0) | NS2 | ||
N852S | NS1 | NS1 | |||||
AA | 78 (100.0) | 50 (100.0) | 50 (100.0) | ||||
AG | 0 (0.0) | 0 (0.0) | 0 (0.0) | ||||
GG | 0 (0.0) | 0 (0.0) | 0 (0.0) | ||||
G | 0 (0.0) | 0 (0.0) | NS2 | 0 (0.0) | NS2 |
Table 5 Clinical characteristics of Crohn’s disease patients in Guangxi with and without P268S mutations
Phenotype | n | P268S+ | P268S- | P value |
Age of onset | aP | |||
≤ 40 years | 45 | 8 (17.8) | 37 (82.2) | |
> 40 years | 53 | 2 (3.8) | 51 (96.2) | |
Location | NS | |||
Ileum | 58 | 6 (10.3) | 52 (89.7) | |
Colon/ileocolon | 40 | 4 (10.0) | 36 (90.0) | |
Gender | NS | |||
Male | 51 | 7 (13.7) | 44 (86.3) | |
Female | 47 | 3 (6.4) | 44 (93.6) | |
Ethnic groups | NS | |||
Han | 50 | 4 (8.0) | 46 (92.0) | |
Zhuang | 48 | 6 (12.5) | 42 (87.5) | |
Comorbidities | NS | |||
Luminal stenosis | 31 | 4 (12.9) | 27 (87.1) | |
No luminal stenosis | 67 | 6 (9.0) | 61 (91.0) | |
Severity | NS | |||
Severe | 42 | 3 (7.1) | 39 (92.9) | |
Mild-moderate | 56 | 7 (12.5) | 49 (87.5) |
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Citation: Long WY, Chen L, Zhang CL, Nong RM, Lin MJ, Zhan LL, Lv XP. Association between
NOD2/CARD15 gene polymorphisms and Crohn's disease in Chinese Zhuang patients. World J Gastroenterol 2014; 20(16): 4737-4744 - URL: https://www.wjgnet.com/1007-9327/full/v20/i16/4737.htm
- DOI: https://dx.doi.org/10.3748/wjg.v20.i16.4737