Faculty of Medicine, Department of Medical Genetics, Umm Al-Qura University, Makkah, Saudi Arabia.
Faculty of Medicine, Biochemistry Department, Umm Al-Qura University, Saudi Arabia; Faculty of Medicine, AinShams University, Egypt.
J Infect Public Health. 2020 Jan;13(1):27-33. doi: 10.1016/j.jiph.2019.05.020. Epub 2019 Jun 15.
Eczema is also known as atopic dermatitis is well-known for the skin disease globally. In Saudi Arabia, exome sequencing studies have not been documented. The purpose of this study was to scrutinize the disease causing mutations in children affected with eczema with exome sequencing in the Saudi population.
We recruited randomly three sporadic cases of children diagnosed with eczema and simultaneously, three more cases were adopted for control samples. Exome sequencing was carried out by applying a pipeline that captures all the variants of concern related to the samples by using the Ion torrent.
In this study, we have documented 49 variants, among which 37 variants were confirmed through eczema children and remaining 30 variants through control children. However, from the analysis of the 6 samples, we have identified rs10192157 (1646C>T; Thr549Ile), rs2899642 (27C>G; Asn9Lys), chr1:152127950 (1625G>A; Gly542Asp) and chr1:152128041 (1534C>G; Gly512Arg) variants which are rarely linked to the disease eczema. In the rs10192157, we have documented these mutations in all three eczema children and one in the control; the rs2899642 mutation appeared in only a couple of eczema children, whereas the mutation in the chr1:152127950 regions appeared in only one eczema patient. However, the chr1:152128041 mutations appeared in only one case of eczema and also in two control children.
Our study revealed four mutations which had not previously been connected with eczema within the database. However, the rs10192157 and rs2899642 mutations were documented with asthma disease. The remaining mutations such as chr1:152127950 and chr1:152128041 have not been reported anywhere else. This study recommends screening these 4 mutations in eczema cases and their relevant controls to confirm the prevalence in the Saudi population. It is recommended that future studies examine the 4 mutations in detail.
湿疹也被称为特应性皮炎，是一种全球知名的皮肤病。在沙特阿拉伯，外显子组测序研究尚未有记录。本研究的目的是通过外显子组测序，在沙特人群中研究患有湿疹的儿童的致病突变。
我们随机招募了三名被诊断为湿疹的散发性儿童病例，同时还招募了另外三名儿童作为对照样本。通过应用 Ion torrent 捕获与样本相关的所有关注变体的管道进行外显子组测序。
在这项研究中，我们记录了 49 个变体，其中 37 个变体在湿疹儿童中得到证实，其余 30 个变体在对照儿童中得到证实。然而，通过对 6 个样本的分析，我们确定了 rs10192157(1646C>T;Thr549Ile)、rs2899642(27C>G;Asn9Lys)、chr1:152127950(1625G>A;Gly542Asp)和 chr1:152128041(1534C>G;Gly512Arg)变体，这些变体与湿疹疾病很少有关联。在 rs10192157 中，我们在所有 3 名湿疹儿童和 1 名对照儿童中记录了这些突变；rs2899642 突变仅出现在少数湿疹儿童中，而 chr1:152127950 区域的突变仅出现在 1 名湿疹患者中。然而，chr1:152128041 突变仅出现在 1 例湿疹和 2 例对照儿童中。
我们的研究揭示了四个以前与数据库中湿疹无关的突变。然而，rs10192157 和 rs2899642 突变与哮喘疾病有关。其余突变，如 chr1:152127950 和 chr1:152128041，尚未在其他地方报道。本研究建议在湿疹病例及其相关对照中筛查这 4 个突变，以确认其在沙特人群中的流行率。建议未来的研究详细研究这 4 个突变。
