HLA and Disease Associations in Koreans

Abstract

The human leukocyte antigen (HLA), the major histocompatibility complex (MHC) in humans has been known to reside on chromosome 6 and encodes cell-surface antigen-presenting proteins and many other proteins related to immune system function. The HLA is highly polymorphic and the most genetically variable coding loci in humans. In addition to a critical role in transplantation medicine, HLA and disease associations have been widely studied across the populations world-wide and are found to be important in prediction of disease susceptibility, resistance and of evolutionary maintenance of genetic diversity. Because recently developed molecular based HLA typing has several advantages like improved specimen stability and increased resolution of HLA types, the association between HLA alleles and a given disease could be more accurately quantified. Here, in this review, we have collected HLA association data on some autoimmune diseases, infectious diseases, cancers, drug responsiveness and other diseases with unknown etiology in Koreans and attempt to summarize some remarkable HLA alleles related with specific diseases.

Construction and Application of a Korean Reference Panel for Imputing Classical Alleles and Amino Acids of Human Leukocyte Antigen Genes

“…There is a well-characterized high degree of genetic variability in human leukocyte antigen (HLA) genes located at the major histocompatibility complex (MHC) locus on chromosome 6 [1] . Although diverse genetic variations and heterozygosity of HLA molecules allow the immune system to defend against a wide range of foreign molecules and pathogens [2] , various classical alleles of HLA genes have been found to be associated with susceptibility to or prognosis of multiple inflammatory disorders and other complex traits [3] , [4] .…”

Association of HLA-B*51:01 with Papillary Thyroid Carcinoma in the Chinese Han Population of the Shandong Coastal Areas

“…It is responsible for the recognition and presentation of foreign antigens to the T lymphocytes and natural killer cells (NK), which is the starting point of the immune response (14). So far, it has been well documented that HLA participates, among others, in tumor immunity and transplant rejection (6). In recent years, the association of HLA with malignant disease has become a research focus.…”

“…However, only a few people fall ill when exposed to the same environment, so this phenomenon suggests that genetic susceptibility factors might play a more important role in tumorigenesis. The human leukocyte antigen (HLA) is the genetic system that has the most associations with diseases so far studied (5,6). HLA polymorphism determines the immune response and individual differences in disease susceptibility (5,6).…”

“…The human leukocyte antigen (HLA) is the genetic system that has the most associations with diseases so far studied (5,6). HLA polymorphism determines the immune response and individual differences in disease susceptibility (5,6). It has been reported that HLA plays a key role in tumor occurrence and development (7).…”

Dust Exposures, IgE Levels, History of Allergy, and Symptoms of Allergy in Poultry Workers

“…In this study most workers had high IgE levels as many as 28 people (84.8%). According to Ahn et al, (2011), allergic reactions occur when immune system misinterprets a normally harmless substance as an agent of the disease and produces a type of antibody, namely immunoglobulin E (IgE). House dust mites are a common cause of asthma and common allergic diseases.…”