在土耳其患有乳糜泻的儿童和青少年中，HLA 组及其与临床特征的关系。

The HLA groups and their relationship with clinical features in Turkish children and adolescents with celiac disease.

机构信息

Divisions of Pediatric Gastroenterology, Hepatology and Nutrition, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Divisions of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

出版信息

Turk J Pediatr. 2021;63(1):118-125. doi: 10.24953/turkjped.2021.01.014.

DOI:10.24953/turkjped.2021.01.014

PMID:33686834

Abstract

BACKGROUND

We aimed to investigate the relationship between human leukocyte antigens (HLA)-groups and clinical features, and degree of intestinal injury in children with celiac disease (CD).

METHODS

Study group included 73 (50 females, 68.5%) children with CD. Demographic and clinical features, accompanying autoimmune diseases, family history for CD and degree of damage in small intestinal mucosa (according to Marsh classification) at the time of diagnosis were determined. Twenty-two siblings of celiac patients without CD (15 females, 65.2%) consisted control group 1, and 66 (40 females, 60.6%) people from the normal population consisted control group 2.

RESULTS

The allele frequencies of HLA B8, B50, C6, C7, DR3, DR7, DQ2, and DR3 homozygosity were higher in the patient group. HLA DQ2 positivity was 89% in the patient group, 73.9 and 45.5% in control groups 1 and 2, respectively (p < 0.0001). HLA A30, C14, DR11, DQ3 frequency were lower in patients compared to both control groups. HLA-DR15 alleles in patient and control group 1 was significantly lower compared to the general population (p < 0.05). Thirty (41.1%) patients had typical, 43 (58.9%) patients had atypical presentation. Thirteen (17.8%) patients had other autoimmune diseases. There was no association between coexisting autoimmune diseases and the HLA antigens. Fifteen patients (20.5%) had a positive family history for CD; patients with HLA A69, B41 and C12 alleles had a higher positive family history (p < 0.05). Intestinal mucosal damage was as follows: 5 patients (6.8%) had Marsh 2, 25 (34.3%) Marsh 3a, 28 (38.4%) Marsh 3b, 15 (20.5%) Marsh 3c. Patients with HLA-DR15 alleles had more frequent Marsh 3a lesions (p < 0.05).

CONCLUSIONS

B8, B50, C6, C7, DR3, DR7, DR3/DR3, DQ2 alleles were risk factors for CD in the Turkish population. HLA C14, DR11, DR15, and DQ3 alleles were found to have a protective role in the same population.

摘要

背景

本研究旨在探讨人类白细胞抗原（HLA）-组与儿童乳糜泻（CD）的临床特征和肠道损伤程度之间的关系。

方法

研究组纳入 73 例（50 名女性，68.5%）CD 患儿。确定诊断时的人口统计学和临床特征、伴发自身免疫性疾病、CD 家族史和小肠黏膜损伤程度（根据 Marsh 分类）。22 例 CD 患者的无 CD 同胞（15 名女性，65.2%）组成对照组 1，66 名（40 名女性，60.6%）正常人组成对照组 2。

结果

患者组 HLA B8、B50、C6、C7、DR3、DR7、DQ2 和 DR3 纯合子的等位基因频率较高。患者组 HLA DQ2 阳性率为 89%，对照组 1 为 73.9%，对照组 2 为 45.5%（p<0.0001）。与两组对照组相比，患者 HLA A30、C14、DR11、DQ3 频率较低。与一般人群相比，患者和对照组 1 的 HLA-DR15 等位基因明显较低（p<0.05）。30 例（41.1%）患者表现为典型，43 例（58.9%）患者表现为非典型。13 例（17.8%）患者伴有其他自身免疫性疾病。共存自身免疫性疾病与 HLA 抗原之间无相关性。15 例（20.5%）患者有 CD 阳性家族史；携带 HLA A69、B41 和 C12 等位基因的患者阳性家族史更高（p<0.05）。肠黏膜损伤如下：5 例（6.8%）为 Marsh 2 期，25 例（34.3%）为 Marsh 3a 期，28 例（38.4%）为 Marsh 3b 期，15 例（20.5%）为 Marsh 3c 期。携带 HLA-DR15 等位基因的患者更易出现 Marsh 3a 病变（p<0.05）。