Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran ; Department of Neurogenetics, Iranian Center of Neurological Research , Tehran University of Medical Sciences, Tehran, Iran.
Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Cell J. 2014 Summer;16(2):171-8. Epub 2014 May 25.
Celiac disease (CD) is developed via autoimmune reactions against gluten which is mainly found in grains. Although HLA DQB1 locus is the most important genetic susceptibility to CD, some other variants such as A49G and G1359T of CTLA4 and CD14 genes respectively have been proposed as CD predisposing genetic factors in many vari- ous studies. We aimed to assess possible roles of A49G and G1359T polymorphisms in CD susceptibility in the Iranian population.
In this case-control, one hundred CD patients and 100 healthy matched controls with average age of 30-33 years were selected. They were genotyped for both A49G and G1359T polymorphisms using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
There was no association between genotypes of A49G variant of CTLA4 and risk of CD (p<0.05). The G1359T polymorphism of CD14 gene also did not show any significant association with risk of CD among the studied population. However, patients with CD14 T/T genotype were more classified in the severe form (Marsh III) of CD, showing border line significance (p<0.05).
No association was identified between the combination of 1359T and A49G alleles with risk of CD. These lacks of association could be due to small sample size and considering further studies in various populations and ethnicities seems to be required.
乳糜泻（CD）是通过针对主要存在于谷物中的麸质的自身免疫反应而发展的。虽然 HLA DQB1 基因座是 CD 的最重要遗传易感性，但在许多不同的研究中，已提出 CTLA4 和 CD14 基因的 A49G 和 G1359T 等其他变体分别为 CD 易感性遗传因素。我们旨在评估 A49G 和 G1359T 多态性在伊朗人群中对 CD 易感性的可能作用。
在这项病例对照研究中，选择了 100 名平均年龄为 30-33 岁的 CD 患者和 100 名健康匹配的对照者。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）对 CTLA4 的 A49G 和 G1359T 多态性进行了基因分型。
CTLA4 的 A49G 变体的基因型与 CD 的风险之间没有关联（p<0.05）。在研究人群中，CD14 基因的 G1359T 多态性也与 CD 的风险没有任何显著关联。然而，CD14 T/T 基因型的患者更倾向于被归类为 CD 的严重形式（Marsh III），具有边缘显著性（p<0.05）。
1359T 和 A49G 等位基因的组合与 CD 的风险之间没有关联。这些缺乏关联可能是由于样本量小，考虑在不同人群和种族中进行进一步研究似乎是必要的。
