PMID- 32371243 OWN - NLM STAT- MEDLINE DCOM- 20200925 LR - 20200925 IS - 1534-4436 (Electronic) IS - 1081-1206 (Linking) VI - 125 IP - 3 DP - 2020 Sep TI - Association of IL13 genetic polymorphisms with atopic dermatitis: Fine mapping and haplotype analysis. PG - 287-293 LID - S1081-1206(20)30271-4 [pii] LID - 10.1016/j.anai.2020.04.023 [doi] AB - BACKGROUND: Although previous studies had reported an important role of interleukin 13 (IL13) and its genetic polymorphisms in atopic dermatitis (AD), many of these previous reports focused on the missense variant rs20541 (Gln144Arg) without fine mapping of the gene region. OBJECTIVE: To analyze the potential associations of other IL13 variants and their haplotypes with AD and assess total serum immunoglobulin E (IgE) levels. METHODS: We performed fine mapping of single-nucleotide polymorphisms (SNPs) within the IL13 gene in a pilot study of 495 children with AD and 444 healthy controls. Then, we conducted a replication study of 757 children with AD and 1620 healthy controls to evaluate the association between the rs20541 variant of IL13 and AD. RESULTS: In the pilot study, the rs20541 and rs1295685 SNPs in the 3'-untranslated region of IL13 had significant associations with AD (P < .001 and .01, respectively). In addition, 2 haplotypes (BL2_ht1 and BL2_ht2), which harbored the significant rs20541 and rs1295685 SNPs, had an association with AD (minimum P = .006). BL2_ht1 and BL2_ht2 had nominal signals associated with the total serum IgE levels (P < .05) but not with the severity of AD (P > .05). In the replication study, rs20541 was associated with the total serum IgE levels but not with the severity of AD. CONCLUSION: An additional IL13 gene SNP, rs1295685, has a strong linkage disequilibrium with rs20541, and its haplotypes are associated with AD and the total serum IgE levels. CI - Copyright (c) 2020 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved. FAU - Lee, Eun AU - Lee E AD - Department of Pediatrics, Chonnam National University Hospital, Chonnam National University Medical School, Gwangju, Republic of Korea. FAU - Kim, Jeong-Hyun AU - Kim JH AD - Department of Medicine, University of Ulsan College of Medicine, Seoul, Republic of Korea. FAU - Lee, So-Yeon AU - Lee SY AD - Department of Pediatrics, Childhood Asthma Atopy Center, Environmental Health Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea. FAU - Kang, Mi-Jin AU - Kang MJ AD - Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Republic of Korea. FAU - Park, Yoon Mee AU - Park YM AD - Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Republic of Korea. FAU - Park, Min Jee AU - Park MJ AD - Department of Pediatrics, Childhood Asthma Atopy Center, Environmental Health Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea. FAU - Rhee, Eun-Sang AU - Rhee ES AD - Department of Pediatrics, Childhood Asthma Atopy Center, Environmental Health Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea. FAU - Ahn, Kangmo AU - Ahn K AD - Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Environmental Health Center for Atopic Diseases, Seoul, Republic of Korea. FAU - Kim, Kyung Won AU - Kim KW AD - Department of Pediatrics, Yonsei University College of Medicine, Seoul, Republic of Korea. FAU - Shin, Youn Ho AU - Shin YH AD - Department of Pediatrics, CHA Gangnam Medical Center, CHA University School of Medicine, Seoul, Republic of Korea. FAU - Suh, Dong In AU - Suh DI AD - Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea. FAU - Hong, Soo-Jong AU - Hong SJ AD - Department of Pediatrics, Childhood Asthma Atopy Center, Environmental Health Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea. Electronic address: sjhong@amc.seoul.kr. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20200501 PL - United States TA - Ann Allergy Asthma Immunol JT - Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology JID - 9503580 RN - 0 (Interleukin-13) RN - 37341-29-0 (Immunoglobulin E) SB - IM MH - Case-Control Studies MH - Child MH - Dermatitis, Atopic/blood/*genetics MH - Female MH - Genetic Predisposition to Disease/*genetics MH - Haplotypes/*genetics MH - Humans MH - Immunoglobulin E/blood MH - Interleukin-13/*genetics MH - Male MH - Pilot Projects MH - Polymorphism, Single Nucleotide/*genetics EDAT- 2020/05/07 06:00 MHDA- 2020/09/26 06:00 CRDT- 2020/05/07 06:00 PHST- 2020/03/05 00:00 [received] PHST- 2020/04/16 00:00 [revised] PHST- 2020/04/22 00:00 [accepted] PHST- 2020/05/07 06:00 [pubmed] PHST- 2020/09/26 06:00 [medline] PHST- 2020/05/07 06:00 [entrez] AID - S1081-1206(20)30271-4 [pii] AID - 10.1016/j.anai.2020.04.023 [doi] PST - ppublish SO - Ann Allergy Asthma Immunol. 2020 Sep;125(3):287-293. doi: 10.1016/j.anai.2020.04.023. Epub 2020 May 1.