The human leukocyte antigen (HLA) system is the locus of genes that encode for proteins on the surface of cells that are responsible for regulation of the immune system in humans. (http://en.wikipedia.org/wiki/Human_leukocyte_antigen)

The HLA genes are the human versions of the Major histocompatibility complex (MHC) genes that are found in most vertebrates.

Human genome 6번 염색체에 흩어져 존재함(6p21.3). 100개 이상의 질병이 이 좌위와 연관되어 있음. 

• MHC class I
  • HLA-A
  • HLA-B
  • HLA-C
• MHC class II
  • HLA-DR: DRB1, DRB3, DRB4, DRB5
  • HLA-DQ: DQB1
  • HLA-DP: DPB1

HLA 검사 (HLA typing) #

조직형별 검사, 조직적합성 검사라고도 함. 200여개의 유전자가 군을 이루는 HLA의 haplotype을 확인함. 이 영역은 LD가 높아 보통 그대로 유전됨. 조혈모세포이식시, A, B, C, DR을 의미있게 여김. 이 4개가 모두 같아야 함. 형제가 같을 가능성은 25%, 부모자식의 경우 5%. 

보통 조직적합성 검사는 6개 항원을 모두 검사하여 일치 여부를 확인함. 모두 일치해야 하지만, 하나 틀린 경우도 이식 진행함. 

2자리, 혹은 4자리 검사가 있음

• 2자리: A03, A30, B08, B14, C03, C14, DR03, DR04,...
• 4자리: DR3011, DR0404,...

관련정보

• HLA검사 대한진단검사의학회:
• 人CoDOM: HLAtyping
• 분자유전학적 조직적합성항원 검사시약의 허가 심사 가이드라인 식품의약품안전평가원

관련정보 #

관련 데이터베이스

• IMGT-HLA
• dbMHC

관련논문

• Predicting HLA class II antigen presentation through integrated deep learning Nature Biotechnology 2019-10-14: Deep learning RNN을 이용하여, class 2 예측 AUC 0.89-0.92
• Human Leukocyte Antigen and Disease Associations: A Broader Perspective Clinics in Laboratory Medicine 2018-12-??     Human Leukocyte Antigen Typing by Next-Generation Sequencing Clinics in Laboratory Medicine 2018-12-??     Next-Generation Sequencing Based HLA Typing: Deciphering Immunogenetic Aspects of Sarcoidosis Frontiers in Genetics 2018-10-25      The Past, Present, and Future of HLA Typing in Transplantation Methods in Molecular Biology* 2018-06-02
• Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections Nature Communications 2017-09-19: 23andMe 23 GWAS와 HLA 세밀한 매핑으로 감염 감수성 확인
• MHC-I Genotype Restricts the Oncogenic Mutational Landscape Cell 2017-10-26
• Next-Generation Sequencing of the HLA locus: Methods and impacts on HLA typing, population genetics and disease association studies Human Immunology 2016-11-??
• The impact of next-generation sequencing technologies on HLA research Journal of Human Genetics 2015-08-27: HLA type이 각종 약 반응성과도 관련됨
• Development of a high-resolution NGS-based HLA-typing and analysis pipeline Nucleic Acids Research 2015-03-09: NGS 데이터로 HLA typing 하기
• HLA and Disease Associations in Koreans Immune network 2011-12-31: Korean의 HLA와 연관된 질병 현황

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