Keshtkari Ali, Danaei Marzieh, Mollaali Milad
Department of Pediatrics, School of Medicine and Clinical Research Center, Emam Sajad Hospital Yasuj University of Medical Sciences Yasuj Iran.
Member of Iran High-Tech Laboratory Network Dana Gene Pajoohan Karmania Company Kerman Iran.
Health Sci Rep. 2024 Jul 14;7(7):e2242. doi: 10.1002/hsr2.2242. eCollection 2024 Jul.
Celiac disease (CD) has proinflammatory and pathogenic immune responses to gluten in intestinal tissue, leading to structural changes in the mucosa of the small intestine. The association of human leukocyte antigen (HLA)-DQ2 and DQ8 genotypes with CD has been previously reported. This test has a negative predictive value close to 100%, so its main purpose is to rule out the detection of CD completely or almost completely. There is limited information regarding HLA-DQ4/5 in CD. This study was conducted to determine the HLA-DQ4/5 genotypes in a group of Southwestern Iranian children with CD.
We conducted a case-control study in Southwest Iran involving 100 participants, employing a nonprobabilistic sampling method. Samples were taken from participants' oral buccal mucosa at Imam Sajjad Hospital of Yasuj, Iran. Then DNA was extracted from these samples and used to determine the frequency of HLA-DQ4/5 genotypes through Sequence-Specific Primer-Polymerase Chain Reaction assay. SPSS 20 was utilized for statistical analyses.
Fifty diagnosed patients with CD (high anti-tissue transglutaminase [tTG]-IgA level [upper limit of normal] with pathological findings of Marsh III) and 50 non-CD individuals (normal anti-tTG-IgA level and normal total IgA level) were enrolled in the study from August 5, 2022 to October 15, 2023. Findings showed that the DQ4a4b allele has the highest frequency in the CD samples (78%, < 0.01) followed by the DQ5a5b allele (12%, < 0.01). Additionally, there was a higher prevalence of DQ4/DQ5 in patients with CD compared to controls (odds ratio = 6.5, confidence interval = 0.84 to 69.46, < 0.01). Furthermore, a significant association was found among HLA DQ4/5 genotype, age (>9.5) ( < 0.01), and gender (female) ( < 0.05).
The observed significant differences among HLA-DQ4 and HLA-DQ5 in Iranian CD samples against controls and the high value of the relative risks showed the significant function of the studied alleles in the prevalence of CD in Iranian patients.
乳糜泻（CD）在肠道组织中对麸质有促炎和致病性免疫反应，导致小肠黏膜结构改变。先前已有关于人类白细胞抗原（HLA）-DQ2和DQ8基因型与乳糜泻关联的报道。该检测的阴性预测值接近100%，因此其主要目的是完全或几乎完全排除乳糜泻的检测。关于乳糜泻中HLA-DQ4/5的信息有限。本研究旨在确定一组伊朗西南部患有乳糜泻儿童的HLA-DQ4/5基因型。
我们在伊朗西南部进行了一项病例对照研究，涉及100名参与者，采用非概率抽样方法。样本取自伊朗亚苏杰伊玛目萨贾德医院参与者的口腔颊黏膜。然后从这些样本中提取DNA，并通过序列特异性引物-聚合酶链反应测定法确定HLA-DQ4/5基因型的频率。使用SPSS 20进行统计分析。
2022年8月5日至2023年10月15日，研究纳入了50例确诊的乳糜泻患者（抗组织转谷氨酰胺酶[tTG]-IgA水平高[正常上限]，伴有马什III级病理结果）和50例非乳糜泻个体（抗tTG-IgA水平正常且总IgA水平正常）。结果显示，DQ4a4b等位基因在乳糜泻样本中的频率最高（78%，<0.01），其次是DQ5a5b等位基因（12%，<0.01）。此外，与对照组相比，乳糜泻患者中DQ4/DQ5的患病率更高（优势比=6.5，置信区间=0.84至69.46，<0.01）。此外，还发现HLA DQ4/5基因型、年龄（>9.5岁）（<0.01）和性别（女性）（<0.05）之间存在显著关联。
在伊朗乳糜泻样本与对照组中观察到的HLA-DQ4和HLA-DQ5之间的显著差异以及相对风险的高值表明，所研究的等位基因在伊朗患者乳糜泻患病率中具有重要作用。
