GWAS Follow-up Study Discovers a Novel Genetic Signal on 10q21.2 for Atopic Dermatitis in Chinese Han Population
Atopic dermatitis (AD) is a common inflammatory skin disease with high heritability. Two susceptibility loci have been confirmed in our previous AD genome-wide association study (GWAS). To look for additional genetic factors in Chinese Han ethnicity, we performed a large-scale GWAS follow-up study....
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Frontiers Media S.A.
2019-03-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2019.00174/full |
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| author | Xin-Ying Cai Xin-Ying Cai Xin-Ying Cai Lu Cheng Lu Cheng Lu Cheng Chong-Xian Yu Chong-Xian Yu Chong-Xian Yu Yan-Yan Wu Yan-Yan Wu Yan-Yan Wu Ling Fang Ling Fang Ling Fang Xiao-Dong Zheng Xiao-Dong Zheng Xiao-Dong Zheng Fu-Sheng Zhou Fu-Sheng Zhou Fu-Sheng Zhou Yu-Jun Sheng Yu-Jun Sheng Yu-Jun Sheng Jun Zhu Jun Zhu Jun Zhu Jie Zheng Jie Zheng Jie Zheng Yuan-Yuan Wu Yuan-Yuan Wu Yuan-Yuan Wu Feng-Li Xiao Feng-Li Xiao Feng-Li Xiao |
| author_facet | Xin-Ying Cai Xin-Ying Cai Xin-Ying Cai Lu Cheng Lu Cheng Lu Cheng Chong-Xian Yu Chong-Xian Yu Chong-Xian Yu Yan-Yan Wu Yan-Yan Wu Yan-Yan Wu Ling Fang Ling Fang Ling Fang Xiao-Dong Zheng Xiao-Dong Zheng Xiao-Dong Zheng Fu-Sheng Zhou Fu-Sheng Zhou Fu-Sheng Zhou Yu-Jun Sheng Yu-Jun Sheng Yu-Jun Sheng Jun Zhu Jun Zhu Jun Zhu Jie Zheng Jie Zheng Jie Zheng Yuan-Yuan Wu Yuan-Yuan Wu Yuan-Yuan Wu Feng-Li Xiao Feng-Li Xiao Feng-Li Xiao |
| author_sort | Xin-Ying Cai |
| collection | DOAJ |
| description | Atopic dermatitis (AD) is a common inflammatory skin disease with high heritability. Two susceptibility loci have been confirmed in our previous AD genome-wide association study (GWAS). To look for additional genetic factors in Chinese Han ethnicity, we performed a large-scale GWAS follow-up study. Forty-nine top single nucleotide polymorphisms (SNPs) that had never been reported previously were genotyped using Sequenom Massarray system in an independent cohort, which consist of northern Chinese (1634 cases and 1263 controls) and southern Chinese (2985 cases and 9526 controls). Association analyses were performed using PLINK 2 software. Three SNPs in northern and ten SNPs in southern were found exhibiting association evidence with AD (P < 0.05). Finally, SNP rs224108 on 10q21.2 showed high significance for AD in joint analysis of GWAS and replication study (Pmeta = 4.55 × 10−9, OR = 1.21), and was confirmed as an independent genetic marker by Linkage disequilibrium calculation and conditional logistic regression analysis. Bioinformatics analysis strongly suggested that rs224108 may have the potential to alter the target gene expression through non-coding epigenetic regulation effects. Meanwhile, SNP rs11150780 on 17q25.3 was also found suggestive association with AD (Pmeta = 7.64 × 10−7, OR = 1.18). Our findings confirmed a novel susceptibility signal on 10q21.2 for AD in Chinese Han population and advanced the understanding of the genetic contribution to AD. |
| first_indexed | 2024-12-12T00:27:32Z |
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| id | doaj.art-86234bad9976417f95130a60ec191169 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-12T00:27:32Z |
| publishDate | 2019-03-01 |
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| series | Frontiers in Genetics |
| spelling | doaj.art-86234bad9976417f95130a60ec1911692022-12-22T00:44:35ZengFrontiers Media S.A.Frontiers in Genetics1664-80212019-03-011010.3389/fgene.2019.00174434117GWAS Follow-up Study Discovers a Novel Genetic Signal on 10q21.2 for Atopic Dermatitis in Chinese Han PopulationXin-Ying Cai0Xin-Ying Cai1Xin-Ying Cai2Lu Cheng3Lu Cheng4Lu Cheng5Chong-Xian Yu6Chong-Xian Yu7Chong-Xian Yu8Yan-Yan Wu9Yan-Yan Wu10Yan-Yan Wu11Ling Fang12Ling Fang13Ling Fang14Xiao-Dong Zheng15Xiao-Dong Zheng16Xiao-Dong Zheng17Fu-Sheng Zhou18Fu-Sheng Zhou19Fu-Sheng Zhou20Yu-Jun Sheng21Yu-Jun Sheng22Yu-Jun Sheng23Jun Zhu24Jun Zhu25Jun Zhu26Jie Zheng27Jie Zheng28Jie Zheng29Yuan-Yuan Wu30Yuan-Yuan Wu31Yuan-Yuan Wu32Feng-Li Xiao33Feng-Li Xiao34Feng-Li Xiao35Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaAtopic dermatitis (AD) is a common inflammatory skin disease with high heritability. Two susceptibility loci have been confirmed in our previous AD genome-wide association study (GWAS). To look for additional genetic factors in Chinese Han ethnicity, we performed a large-scale GWAS follow-up study. Forty-nine top single nucleotide polymorphisms (SNPs) that had never been reported previously were genotyped using Sequenom Massarray system in an independent cohort, which consist of northern Chinese (1634 cases and 1263 controls) and southern Chinese (2985 cases and 9526 controls). Association analyses were performed using PLINK 2 software. Three SNPs in northern and ten SNPs in southern were found exhibiting association evidence with AD (P < 0.05). Finally, SNP rs224108 on 10q21.2 showed high significance for AD in joint analysis of GWAS and replication study (Pmeta = 4.55 × 10−9, OR = 1.21), and was confirmed as an independent genetic marker by Linkage disequilibrium calculation and conditional logistic regression analysis. Bioinformatics analysis strongly suggested that rs224108 may have the potential to alter the target gene expression through non-coding epigenetic regulation effects. Meanwhile, SNP rs11150780 on 17q25.3 was also found suggestive association with AD (Pmeta = 7.64 × 10−7, OR = 1.18). Our findings confirmed a novel susceptibility signal on 10q21.2 for AD in Chinese Han population and advanced the understanding of the genetic contribution to AD.https://www.frontiersin.org/article/10.3389/fgene.2019.00174/fullatopic dermatitissingle-nucleotide polymorphismsusceptibility locigenome-wide association studyfollow-up study |
| spellingShingle | Xin-Ying Cai Xin-Ying Cai Xin-Ying Cai Lu Cheng Lu Cheng Lu Cheng Chong-Xian Yu Chong-Xian Yu Chong-Xian Yu Yan-Yan Wu Yan-Yan Wu Yan-Yan Wu Ling Fang Ling Fang Ling Fang Xiao-Dong Zheng Xiao-Dong Zheng Xiao-Dong Zheng Fu-Sheng Zhou Fu-Sheng Zhou Fu-Sheng Zhou Yu-Jun Sheng Yu-Jun Sheng Yu-Jun Sheng Jun Zhu Jun Zhu Jun Zhu Jie Zheng Jie Zheng Jie Zheng Yuan-Yuan Wu Yuan-Yuan Wu Yuan-Yuan Wu Feng-Li Xiao Feng-Li Xiao Feng-Li Xiao GWAS Follow-up Study Discovers a Novel Genetic Signal on 10q21.2 for Atopic Dermatitis in Chinese Han Population Frontiers in Genetics atopic dermatitis single-nucleotide polymorphism susceptibility loci genome-wide association study follow-up study |
| title | GWAS Follow-up Study Discovers a Novel Genetic Signal on 10q21.2 for Atopic Dermatitis in Chinese Han Population |
| title_full | GWAS Follow-up Study Discovers a Novel Genetic Signal on 10q21.2 for Atopic Dermatitis in Chinese Han Population |
| title_fullStr | GWAS Follow-up Study Discovers a Novel Genetic Signal on 10q21.2 for Atopic Dermatitis in Chinese Han Population |
| title_full_unstemmed | GWAS Follow-up Study Discovers a Novel Genetic Signal on 10q21.2 for Atopic Dermatitis in Chinese Han Population |
| title_short | GWAS Follow-up Study Discovers a Novel Genetic Signal on 10q21.2 for Atopic Dermatitis in Chinese Han Population |
| title_sort | gwas follow up study discovers a novel genetic signal on 10q21 2 for atopic dermatitis in chinese han population |
| topic | atopic dermatitis single-nucleotide polymorphism susceptibility loci genome-wide association study follow-up study |
| url | https://www.frontiersin.org/article/10.3389/fgene.2019.00174/full |
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