科威特克罗恩病患者中的多态性（P268S、IVS8、G908R、L1007fs、R702W）：一项病例对照研究。
polymorphisms (P268S, IVS8, G908R, L1007fs, R702W) among Kuwaiti patients with Crohn's disease: A case-control study.
机构信息
Department of Endemic and Infectious Diseases, Suez Canal University, Ismailia, Egypt; Department of Internal Medicine, Division of Gastroenterology, Al Sabah Hospital, Ministry of Health, Kuwait.
Inserm U1256 « Nutrition - Genetics and Exposure to Environmental Risks - NGERE », University of Lorraine, Vandoeuvre-les-Nancy, France.
出版信息
Saudi J Gastroenterol. 2021 Jul-Aug;27(4):249-256. doi: 10.4103/sjg.sjg_613_20.
BACKGROUND
Nucleotide-binding oligomerization domain-containing two (NOD2/CARD15) gene polymorphisms are implicated in the pathogenesis of Crohn's disease (CD).
AIM
To describe the allelic frequency of NOD2/CARD15 gene variants among Kuwaiti patients with CD and investigate potential genotype/phenotype associations.
METHODS
Adult Kuwaiti citizens with an established diagnosis of CD and healthy controls were enrolled from October 2018 to May 2020. Three common NOD2/CARD15 polymorphisms (R702W, G908R, and L1007fs) and P268S and IVS8 polymorphisms were screened by polymerase chain reaction/restriction analysis length polymorphism (PCR/RFLP).
RESULTS
Ninety adult Kuwaiti patients with CD and 210 healthy subjects (as controls) were recruited. P268S, IVS8, G908R, and R702W minor alleles were identified in 38.9%, 21.1%, 12.2%, and 4.4% of CD patients, respectively. NOD2/CARD15 polymorphisms coexisted in 35 healthy controls (16.7%) and 21 CD patients (23.3%). Individuals with either a single or multiple polymorphism were approximately two times more likely to have CD than those with no polymorphism. Patients with multiple polymorphisms had significantly more stricturing and penetrating disease.
CONCLUSION
NOD2/CARD15 gene polymorphisms were significantly associated with an increased risk of disease and aggressive phenotypes among the Kuwaiti CD population.
背景
核苷酸结合寡聚化结构域 2（NOD2/CARD15）基因多态性与克罗恩病（CD）的发病机制有关。
目的
描述科威特 CD 患者 NOD2/CARD15 基因变异的等位基因频率，并探讨潜在的基因型/表型相关性。
方法
2018 年 10 月至 2020 年 5 月，招募了成年科威特公民，他们被确诊为 CD，并招募了健康对照者。通过聚合酶链反应/限制性分析长度多态性（PCR/RFLP）筛选三种常见的 NOD2/CARD15 多态性（R702W、G908R 和 L1007fs）和 P268S 和 IVS8 多态性。
结果
共招募了 90 名成年科威特 CD 患者和 210 名健康受试者（作为对照）。在 CD 患者中，分别发现了 P268S、IVS8、G908R 和 R702W 等位基因，其频率分别为 38.9%、21.1%、12.2%和 4.4%。NOD2/CARD15 多态性在 35 名健康对照者（16.7%）和 21 名 CD 患者（23.3%）中共同存在。与无多态性者相比，单一或多种多态性者患 CD 的可能性约为两倍。具有多种多态性的患者发生狭窄和穿透性疾病的风险显著增加。
结论
NOD2/CARD15 基因多态性与科威特 CD 人群疾病风险增加和侵袭性表型显著相关。
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