耳鼻咽喉科・頭頸部外科94巻12号

2022年11月発行

特集 この1冊でわかる遺伝学的検査—基礎知識と臨床応用

《臨床への応用》

アレルギー性鼻炎・慢性副鼻腔炎

著者： 木戸口正典¹

所属機関： ¹福井大学医学部耳鼻咽喉科・頭頸部外科

ページ範囲：P.1032 - P.1036

文献概要

POINT

●アレルギー性鼻炎や慢性副鼻腔炎などの多因子疾患は，遺伝的要因と環境的要因が複合的に関与する疾患である。

●アレルギー性鼻炎では，HLA-DPB1^＊05:01を有する人はスギ花粉に感作しやすく，舌下免疫療法の治療効果が低い人の割合が高い。

●鼻茸を伴う慢性副鼻腔炎や好酸球性副鼻腔炎では，NOS2プロモーター領域における反復配列の回数が少ないほど術後再発をきたしやすい。

●アレルギー性鼻炎や慢性副鼻腔炎の治療効果に関わる遺伝学的検査の臨床応用が期待される。

参考文献

1）Greiner AN, et al：Allergic rhinitis. Lancet 378：2112-2122, 2011

2）Tamari M, et al：Genome-wide association studies of allergic diseases. Allergol Int 62：21-28, 2013

3）Tomita K, et al：Variants in the 17q21 asthma susceptibility locus are associated with allergic rhinitis in the Japanese population. Allergy 68：92-100, 2013

4）Hirota T, et al：Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. Nat Genet 44：1222-1226, 2012

5）Noguchi E, et al：Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations. PLoS Genet 7：e1002170, 2011

6）Yatagai Y, et al：Genome-wide association study for levels of total serum IgE identifies HLA-C in a Japanese population. PLoS One 8：e80941, 2013

7）Choi BY, et al：Genetics and epigenetics in allergic rhinitis. Genes（Basel）12：2004, 2021

8）Bønnelykke K, et al：Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. Nat Genet 45：902-906, 2013

9）Waage J, et al：Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis. Nat Genet 50：1072-1080, 2018

10）Andiappan AK, et al：Genome-wide association study for atopy and allergic rhinitis in a Singapore Chinese population. PLoS One 6：e19719, 2011

11）Nilsson D, et al：Replication of genomewide associations with allergic sensitization and allergic rhinitis. Allergy 69：1506-1514, 2014

12）Hirata J, et al：Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population. Nat Genet 51：470-480, 2019

13）Kusano S, et al：Structural basis for the specific recognition of the major antigenic peptide from the Japanese cedar pollen allergen Cry j 1 by HLA-DP5. J Mol Biol 426：3016-3027, 2014

14）Morii W, et al：Association of Japanese cedar pollinosis and sensitization with HLA-DPB1 in the Japanese adolescent. Allergol Int 67：61-66, 2018

05：01 genotype is associated with poor response to sublingual immunotherapy for Japanese cedar pollinosis. Allergy 77：1633-1635, 2022

16）Kristjansson RP, et al：A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis. Nat Genet 51：267-276, 2019

17）Ninomiya T, et al：Periostin as a novel biomarker for postoperative recurrence of chronic rhinosinitis with nasal polyps. Sci Rep 8：11450, 2018

18）Imoto Y, et al：Enhanced 15-lipoxygenase 1 production is related to periostin expression and eosinophil recruitment in eosinophilic chronic rhinosinusitis. Biomolecules 10：1568, 2020

19）Gemayel R, et al：Variable tandem repeats accelerate evolution of coding and regulatory sequences. Annu Rev Genet 44：445-477, 2010

20）Ellegren H：Microsatellites：simple sequences with complex evolution. Nat Rev Genet 5：435-445, 2004

21）Fan H, et al：A brief review of short tandem repeat mutation. Genomics Proteomics Bioinformatics 5：7-14, 2007

22）Hannan AJ：Tandem repeat polymorphisms：modulators of disease susceptibility and candidates for ‘missing heritability’. Trends Genet 26：59-65, 2010

23）Suzuki H, et al；FANTOM Consortium：The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line. Nat Genet 41：553-562, 2009

24）Abba AA：Exhaled nitric oxide in diagnosis and management of respiratory diseases. Ann Thorac Med 4：173-181, 2009

25）Jorissen M, et al：Nasal nitric oxide. Allergy 56：1026-1033, 2001

26）Taruya T, et al：Comparison of arginase isoform expression in patients with different subtypes of chronic rhinosinusitis. J Laryngol Otol 129：1194-1200, 2015

27）Noda N, et al：Monitoring of oral and nasal exhaled nitric oxide in eosinophilic chronic rhinosinusitis：a prospective study. Am J Rhinol Allergy 26：255-259, 2012

28）Pascual M, et al：（CCTTT）n polymorphism of NOS2A in nasal polyposis and asthma：a case-control study. J Investig Allergol Clin Immunol 18：239-244, 2008

29）Hirai K, et al：Association between（CCTTT）n repeat polymorphism in NOS2 promoter and asthma exacerbations. J Allergy Clin Immunol 142：663-665. e3, 2018

30）Konno S, et al：（CCTTT）n repeat polymorphism in the NOS2 gene promoter is associated with atopy. J Allergy Clin Immunol 108：810-814, 2001

31）Hsu LA, et al：Association evidence of CCTTT repeat polymorphism in the iNOS promoter and the risk of atrial fibrillation in Taiwanese. Sci Rep 7：42388, 2017

32）Kidoguchi M, et al：Association between the NOS2 pentanucleotide repeat polymorphism and risk of postoperative recurrence of chronic rhinosinusitis with nasal polyps in a Japanese population. Allergol Int 69：619-621, 2020