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首页> 外文期刊>World Journal of Gastroenterology >Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn's disease.
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Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn's disease.

机译：患有克罗恩病的希腊患者中OCTN1，OCTN2和DLG5基因的单核苷酸多态性。

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AIM: To validate novel single nucleotide polymorphisms (SNPs) in Greek patients with Crohn's disease (CD). METHODS: A total of 120 patients with CD, 85 patients with UC, and 100 unrelated healthy controls were genotyped. Genotyping was performed by allele-specific PCR or by PCR-RFLP analysis. RESULTS: Our results showed that the 1672T and -207C alleles were obviously over-represented in CD patients only (P<0.01 and P<0.05, respectively) compared to the control population. The G113A polymorphism was completely absent in our studied population. The odds ratio for the carriage of the TC haplotype was 2.21 for CD patients as compared with controls. Additionally, the frequency of the TC haplotype was increased in patients with ileocolitis or colitis, and was mainly associated with the fibrostenotic phenotype of the disease. Furthermore, when the TC haplotype was compared jointly with the carriage of at least one mutation of the NOD2/CARD15 gene, there was an increased risk for CD, but not for UC, compared to controls. Regarding the location of the disease, the concomitant presence of the TC haplotype and NOD2/CARD15 mutations was mainly associated with ileocolitis or ileitis. CONCLUSION: Collectively, our results suggest that the 1672T variant of the OCTN1 gene and the -207C variant of the OCTN2 gene represent risk factors for CD in the Greek population.
机译：目的：验证希腊克罗恩病（CD）患者的新型单核苷酸多态性（SNP）。方法：对120例CD患者，85例UC患者和100例无关健康对照者进行基因分型。通过等位基因特异性PCR或PCR-RFLP分析进行基因分型。结果：我们的结果显示，与对照组相比，仅CD患者中的1672T和-207C等位基因明显过高（分别为P <0.01和P <0.05）。在我们研究的人群中，G113A多态性是完全不存在的。与对照组相比，CD患者携带TC单倍型的优势比为2.21。另外，在患有回肠结肠炎或结肠炎的患者中，TC单倍型的频率增加，并且主要与该疾病的纤维狭窄表型有关。此外，将TC单倍型与携带至少一个NOD2 / CARD15基因突变进行比较时，与对照组相比，CD风险增加，而UC风险增加。关于疾病的位置，TC单倍型和NOD2 / CARD15突变的同时存在主要与回肠结肠炎或回肠炎有关。结论：总体而言，我们的结果表明，OCTN1基因的1672T变异体和OCTN2基因的-207C变异体是希腊人群CD的危险因素。

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