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南印度本地人群中乳糜泻易感基因 HLA-DQ2 和 HLA-DQ8 的分布。

Distribution of celiac disease predisposing genes HLA-DQ2 and HLA-DQ8 in the native population of southern India.

机构信息

Celiac Disease Research Laboratory, Department of Pediatrics, Università Politecnica delle Marche, 60123, Ancona, Italy.

SRM Institute of Gastroenterology, Hepatobiliary Sciences and Transplantation, SIMS Hospital, Jawaharlal Nehru Road, Vadapalani, Chennai, 600 026, India.

出版信息

Indian J Gastroenterol. 2022 Jun;41(3):240-246. doi: 10.1007/s12664-022-01251-6. Epub 2022 Jun 29.

DOI:10.1007/s12664-022-01251-6
PMID:35767211
Abstract

BACKGROUND

Celiac disease (CD) is an intestinal inflammatory condition caused by the ingestion of gluten peptides in wheat and related grains in individuals carrying HLA-DQ2 and/or HLA-DQ8 genes. In comparison to HLA-DQ8, a higher HLA-DQ2 prevalence is reported in European population where wheat has been the staple food for thousands of years. In non-European population, this pattern of HLA-DQ CD-predisposing gene distribution has not always been found. The aim of this study was to evaluate the HLA-DQ2 and HLA-DQ8 distribution in the native low-gluten consuming southern Indian population.

METHODS

Overall, 211 dried blood spots (DBS) were collected from native southern Indian individuals. HLA-DQ characterization and the determination of homozygous/heterozygous status were performed using commercially available HLA-DQ typing kits.

RESULTS

Of 211 collected DBS, 88 (42%, 95% CI: 36-48) were positive for HLA-DQ2 and/or HLA-DQ8 heterodimers. Overall, 40 (19%, 95% CI: 14-24) samples typed positive for HLA-DQ2 and 48 (23%, 95% CI: 18-28) typed positive for HLA-DQ8 genotypes. Of 40 HLA-DQ2-positive individuals, only one subject tested homozygous for the DQB1*02 allele.

CONCLUSIONS

In the southern Indian native general population, the prevalence of HLA-DQ8 is higher in comparison to HLA-DQ2 prevalence. This finding could be related to the delayed introduction of wheat in the diet of the southern Indian population.

摘要

背景

乳糜泻(CD)是一种由携带 HLA-DQ2 和/或 HLA-DQ8 基因的个体摄入小麦和相关谷物中的麸质肽引起的肠道炎症性疾病。与 HLA-DQ8 相比,在数千年来一直以小麦为主食的欧洲人群中,HLA-DQ2 的流行率更高。在非欧洲人群中,这种 HLA-DQ 介导的 CD 易感性基因分布模式并非总是存在。本研究旨在评估原生低麸质摄入的印度南部人群中 HLA-DQ2 和 HLA-DQ8 的分布。

方法

共采集了 211 份来自印度南部原生个体的干血斑(DBS)。使用市售 HLA-DQ 分型试剂盒对 HLA-DQ 特征进行分析,并确定纯合/杂合状态。

结果

在采集的 211 份 DBS 中,88 份(42%,95%CI:36-48)为 HLA-DQ2 和/或 HLA-DQ8 异二聚体阳性。总体而言,40 份(19%,95%CI:14-24)样本检测出 HLA-DQ2 阳性,48 份(23%,95%CI:18-28)样本检测出 HLA-DQ8 基因型阳性。在 40 名 HLA-DQ2 阳性个体中,仅有 1 名个体的 DQB1*02 等位基因呈纯合状态。

结论

在印度南部原生一般人群中,HLA-DQ8 的流行率高于 HLA-DQ2。这一发现可能与小麦在印度南部人群饮食中的引入时间较晚有关。

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