Association of IL13 genetic polymorphisms with atopic dermatitis: Fine mapping and haplotype analysis

doi:10.1016/j.anai.2020.04.023

. 2020 Sep;125(3):287-293.

doi: 10.1016/j.anai.2020.04.023. Epub 2020 May 1.

Association of IL13 genetic polymorphisms with atopic dermatitis: Fine mapping and haplotype analysis

Eun Lee¹, Jeong-Hyun Kim², So-Yeon Lee³, Mi-Jin Kang⁴, Yoon Mee Park⁴, Min Jee Park³, Eun-Sang Rhee³, Kangmo Ahn⁵, Kyung Won Kim⁶, Youn Ho Shin⁷, Dong In Suh⁸, Soo-Jong Hong⁹

Affiliations

¹ Department of Pediatrics, Chonnam National University Hospital, Chonnam National University Medical School, Gwangju, Republic of Korea.
² Department of Medicine, University of Ulsan College of Medicine, Seoul, Republic of Korea.
³ Department of Pediatrics, Childhood Asthma Atopy Center, Environmental Health Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
⁴ Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Republic of Korea.
⁵ Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Environmental Health Center for Atopic Diseases, Seoul, Republic of Korea.
⁶ Department of Pediatrics, Yonsei University College of Medicine, Seoul, Republic of Korea.
⁷ Department of Pediatrics, CHA Gangnam Medical Center, CHA University School of Medicine, Seoul, Republic of Korea.
⁸ Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
⁹ 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: [email protected].

PMID: 32371243
DOI: 10.1016/j.anai.2020.04.023

Association of IL13 genetic polymorphisms with atopic dermatitis: Fine mapping and haplotype analysis

Eun Lee et al. Ann Allergy Asthma Immunol. 2020 Sep.

. 2020 Sep;125(3):287-293.

doi: 10.1016/j.anai.2020.04.023. Epub 2020 May 1.

Authors

Eun Lee¹, Jeong-Hyun Kim², So-Yeon Lee³, Mi-Jin Kang⁴, Yoon Mee Park⁴, Min Jee Park³, Eun-Sang Rhee³, Kangmo Ahn⁵, Kyung Won Kim⁶, Youn Ho Shin⁷, Dong In Suh⁸, Soo-Jong Hong⁹

Affiliations

¹ Department of Pediatrics, Chonnam National University Hospital, Chonnam National University Medical School, Gwangju, Republic of Korea.
² Department of Medicine, University of Ulsan College of Medicine, Seoul, Republic of Korea.
³ Department of Pediatrics, Childhood Asthma Atopy Center, Environmental Health Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
⁴ Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Republic of Korea.
⁵ Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Environmental Health Center for Atopic Diseases, Seoul, Republic of Korea.
⁶ Department of Pediatrics, Yonsei University College of Medicine, Seoul, Republic of Korea.
⁷ Department of Pediatrics, CHA Gangnam Medical Center, CHA University School of Medicine, Seoul, Republic of Korea.
⁸ Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
⁹ 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: [email protected].

PMID: 32371243
DOI: 10.1016/j.anai.2020.04.023

Abstract

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.

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Association of IL13 genetic polymorphisms with atopic dermatitis: Fine mapping and haplotype analysis

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Association of IL13 genetic polymorphisms with atopic dermatitis: Fine mapping and haplotype analysis

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