Genetic polymorphisms of MUC22 gene and non-cystic fibrosis bronchiectasis in Asians

• Project/Area Number: 18K08163
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 53030:Respiratory medicine-related
• Research Institution: 公益財団法人結核予防会 結核研究所
• Principal Investigator: Hijikata Minako 公益財団法人結核予防会 結核研究所, 生体防御部, 部長 (90332387)
• Co-Investigator(Kenkyū-buntansha): 慶長 直人 公益財団法人結核予防会 結核研究所, 副所長, 副所長 (80332386)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Project Status: Completed (Fiscal Year 2020)
• Budget Amount: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000); Fiscal Year 2020: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000); Fiscal Year 2019: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000); Fiscal Year 2018: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
• Keywords: びまん性汎細気管支炎 / 副鼻腔気管支症候群 / ムチン遺伝子 / HLA領域 / 遺伝的多型 / 長鎖シークエンサー / 非嚢胞性肺線維症性気管支拡張症 / 遺伝バリアント / 非嚢胞性線維症性気管支拡張症 / PBMUCL1（MUC22) / 肺非結核性抗酸菌症

Outline of Final Research Achievements

Genetic polymorphisms in mucin/mucin-like genes in HLA region were analyzed in Japanese patients of diffuse panbronchiolitis and in Vietnamese patients of sinobronchial syndrome, using short reads from Illumina sequencer and long reads from Oxford Nanopore sequencer. Several genetic polymorphisms related to diffuse panbronchiolitis in Japanese patients were also found in Vietnamese patients of sinobronchial syndrome. Shared polymorphisms between the two Asian populations may be related to non-cystic fibrosis bronchiectasis in Asians.

Academic Significance and Societal Importance of the Research Achievements

ムチン遺伝子のリピート領域の配列は、従来のサンガーシークエンス法やIllumina型の短鎖シークエンサーでの解析が困難であったが、long PCRと長鎖シークエンサーを用いた方法で配列が決定できた。また、HLA領域のムチン・ムチン様遺伝子の遺伝的多型と疾患の関連解析は、HLA領域特有の長く続く連鎖不平衡状態のために絞り込みが難しいが、日本のびまん性汎細気管支炎症例とベトナムの副鼻腔気管支症候群で共通の遺伝的多型を探索することで、日本人集団での関連領域をさらに絞り込める可能性が示された。

Research Products

• [Journal Article] Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1?4 of DRC1 in Japanese patients with recurrent sinopulmonary infection (2019)
  • Author(s): Keicho Naoto、Hijikata Minako、Morimoto Kozo、Homma Sakae、Taguchi Yoshio、Azuma Arata、Kudoh Shoji
  • Journal Title: Molecular Genetics & Genomic Medicine Volume: 8 Issue: 1 Pages: 19-32
  • DOI: 10.1002/mgg3.1033
  • Peer Reviewed / Open Access / Int'l Joint Research