中国汉族人群中与白癜风相关的 10q22.1 编码变异的鉴定

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Genetic testing and molecular biomarkers Pub Date : 2024-03-01 DOI:10.1089/gtmb.2023.0027
Xianfa Tang, Hui Cheng, Lu Cheng, Bo Liang, Mengyun Chen, Xiaodong Zheng, Fengli Xiao
{"title":"中国汉族人群中与白癜风相关的 10q22.1 编码变异的鉴定","authors":"Xianfa Tang, Hui Cheng, Lu Cheng, Bo Liang, Mengyun Chen, Xiaodong Zheng, Fengli Xiao","doi":"10.1089/gtmb.2023.0027","DOIUrl":null,"url":null,"abstract":"<p><p><b><i>Objective:</i></b> This study aims to identify causal variants associated with vitiligo in an expanded region of 10q22.1. <b><i>Materials and Methods:</i></b> We conducted a fine-scale deep analysis of the expanded 10q22.1 region using in a large genome-wide association studies dataset consisting of 1117 cases and 1701 controls through imputation. We selected five nominal coding single nucleotide polymorphisms (SNPs) located in <i>SLC29A3</i> and <i>CDH23</i> and genotyped them in an independent cohort of 2479 cases and 2451 controls in a Chinese Han population cohort using the Sequenom MassArray iPLEX1 system. <b><i>Results:</i></b> A missense SNP in <i>SLC29A3</i>, rs2252996, showed strong evidence of association with vitiligo (<i>p</i> = 1.34 × 10<sup>-8</sup>, odds ratio [OR] = 0.82). Three synonymous SNPs (rs1084004 in <i>SLC29A3</i>; rs12218559 and rs10999978 in <i>CDH23</i>) provided suggestive evidence of association for vitiligo (<i>p</i> = 1.69 × 10<sup>-6</sup>, OR = 0.84; <i>p</i> = 9.47 × 10<sup>-5</sup>, OR = 1.18; <i>p</i> = 6.90 × 10<sup>-4</sup>, OR = 1.16, respectively). Stepwise conditional analyses identified two significant independent disease-associated signals from the four SNPs (both <i>p</i> < 0.05; both D' = 0.03; and <i>r<sup>2</sup></i> = 0.00). <b><i>Conclusion:</i></b> The study identifies four genetic coding variants in <i>SLC29A3</i> and <i>CDH23</i> on 10q22.1 that may contribute to vitiligo susceptibility with one missense variant affecting disease subphenotypes. The presence of multiple genetic variants underscores their significant role in the genetic pathogenesis of the disease.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":null,"pages":null},"PeriodicalIF":1.1000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population.\",\"authors\":\"Xianfa Tang, Hui Cheng, Lu Cheng, Bo Liang, Mengyun Chen, Xiaodong Zheng, Fengli Xiao\",\"doi\":\"10.1089/gtmb.2023.0027\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b><i>Objective:</i></b> This study aims to identify causal variants associated with vitiligo in an expanded region of 10q22.1. <b><i>Materials and Methods:</i></b> We conducted a fine-scale deep analysis of the expanded 10q22.1 region using in a large genome-wide association studies dataset consisting of 1117 cases and 1701 controls through imputation. We selected five nominal coding single nucleotide polymorphisms (SNPs) located in <i>SLC29A3</i> and <i>CDH23</i> and genotyped them in an independent cohort of 2479 cases and 2451 controls in a Chinese Han population cohort using the Sequenom MassArray iPLEX1 system. <b><i>Results:</i></b> A missense SNP in <i>SLC29A3</i>, rs2252996, showed strong evidence of association with vitiligo (<i>p</i> = 1.34 × 10<sup>-8</sup>, odds ratio [OR] = 0.82). Three synonymous SNPs (rs1084004 in <i>SLC29A3</i>; rs12218559 and rs10999978 in <i>CDH23</i>) provided suggestive evidence of association for vitiligo (<i>p</i> = 1.69 × 10<sup>-6</sup>, OR = 0.84; <i>p</i> = 9.47 × 10<sup>-5</sup>, OR = 1.18; <i>p</i> = 6.90 × 10<sup>-4</sup>, OR = 1.16, respectively). Stepwise conditional analyses identified two significant independent disease-associated signals from the four SNPs (both <i>p</i> < 0.05; both D' = 0.03; and <i>r<sup>2</sup></i> = 0.00). <b><i>Conclusion:</i></b> The study identifies four genetic coding variants in <i>SLC29A3</i> and <i>CDH23</i> on 10q22.1 that may contribute to vitiligo susceptibility with one missense variant affecting disease subphenotypes. The presence of multiple genetic variants underscores their significant role in the genetic pathogenesis of the disease.</p>\",\"PeriodicalId\":12603,\"journal\":{\"name\":\"Genetic testing and molecular biomarkers\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2024-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genetic testing and molecular biomarkers\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1089/gtmb.2023.0027\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetic testing and molecular biomarkers","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1089/gtmb.2023.0027","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

摘要

研究目的本研究旨在确定 10q22.1 扩增区域中与白癜风相关的因果变异。材料与方法:我们在一个由 1117 例病例和 1701 例对照组成的大型全基因组关联研究数据集中,通过估算对 10q22.1 扩增区域进行了精细的深度分析。我们选择了位于 SLC29A3 和 CDH23 中的五个标称编码单核苷酸多态性(SNPs),并使用 Sequenom MassArray iPLEX1 系统对中国汉族人群队列中的 2479 例病例和 2451 例对照进行了基因分型。结果显示SLC29A3中的一个错义SNP,rs2252996,显示了与白癜风相关的强有力证据(p = 1.34 × 10-8,几率比[OR] = 0.82)。三个同义 SNP(SLC29A3 中的 rs1084004;CDH23 中的 rs12218559 和 rs10999978)提供了与白癜风相关的提示性证据(分别为 p = 1.69 × 10-6,OR = 0.84;p = 9.47 × 10-5,OR = 1.18;p = 6.90 × 10-4,OR = 1.16)。逐步条件分析从四个 SNPs 中发现了两个显著的独立疾病相关信号(p r2 = 0.00)。结论该研究在 10q22.1 上的 SLC29A3 和 CDH23 中发现了四个可能导致白癜风易感性的基因编码变异,其中一个错义变异会影响疾病亚型。多种遗传变异的存在突显了它们在该病遗传发病机制中的重要作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population.

Objective: This study aims to identify causal variants associated with vitiligo in an expanded region of 10q22.1. Materials and Methods: We conducted a fine-scale deep analysis of the expanded 10q22.1 region using in a large genome-wide association studies dataset consisting of 1117 cases and 1701 controls through imputation. We selected five nominal coding single nucleotide polymorphisms (SNPs) located in SLC29A3 and CDH23 and genotyped them in an independent cohort of 2479 cases and 2451 controls in a Chinese Han population cohort using the Sequenom MassArray iPLEX1 system. Results: A missense SNP in SLC29A3, rs2252996, showed strong evidence of association with vitiligo (p = 1.34 × 10-8, odds ratio [OR] = 0.82). Three synonymous SNPs (rs1084004 in SLC29A3; rs12218559 and rs10999978 in CDH23) provided suggestive evidence of association for vitiligo (p = 1.69 × 10-6, OR = 0.84; p = 9.47 × 10-5, OR = 1.18; p = 6.90 × 10-4, OR = 1.16, respectively). Stepwise conditional analyses identified two significant independent disease-associated signals from the four SNPs (both p < 0.05; both D' = 0.03; and r2 = 0.00). Conclusion: The study identifies four genetic coding variants in SLC29A3 and CDH23 on 10q22.1 that may contribute to vitiligo susceptibility with one missense variant affecting disease subphenotypes. The presence of multiple genetic variants underscores their significant role in the genetic pathogenesis of the disease.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
期刊最新文献
Immune Regulatory Circular RNAs, circRasGEF1B and circHIPK3, Are Upregulated in Peripheral Blood Mononuclear Cells of COVID-19 Patients. Association of ANRIL Gene Polymorphisms with Gastric Cancer Risk: A Case-Control Study. Evaluation of Multigene Methylation for Blood-Based Detection of Colorectal Cancer. Human Leukocyte Antigen-G Gene Polymorphism in Peninsular Malaysia: A Preliminary Report. Analysis of ANO6, HAPLN1, and EDIL3 Polymorphisms in Patients with Ankylosing Spondylitis in a Chinese Han Population: A Case-Control Study.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1