Gene "HLA"
Found 12 records
Gene information
Gene symbol:
HLA
See related:
Ensembl: , Gene ID:
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
12 
Disorder:
5 
Vriant:
12 
Reference:
5 
Effect type:
Penetrance(7) ,Expressivity(4) ,Pleiotropy(1)  
Modifier effect:
Altered incidence(7) ,Altered severity(2) ,Altered Pseudomonas aeruginosa colonization rate(1) ,Altered immune response(1) ,Risk factor(1)  
Details：
  • Variant 1:
    HLA:variant
    Gene:
    HLA
    Genomic location:
    dbSNP ID:
    Target disease:
    Cystic fibrosis(DOID_1485)
    Effect type:
    Pleiotropy 
    Modifier effect:
    Altered Pseudomonas aeruginosa colonization rate 
    Evidence:
    From review article 
    Effect:
    Higher frequency of DR4, DR7, and DR7/DQA0201 alleles in CF patients;Higher IgE and higher rate of Pseudomonas aeruginosa colonization associated with DR7+
    Reference:
    PMID16124861
    Title:
    Modifier genetics: cystic fibrosis.
    Species studied:
    Human
    Abstract:
    Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder in the Caucasian population, affecting about 30,000 individuals in the United States. The gene responsible for CF, the CF transmembrane conductance regulator (CFTR), was identified 15 years ago. Substantial variation in the many aspects of the CF phenotype among individuals with the same CFTR genotype demonstrates that factors independent of CFTR exert considerable influence on outcome in CF. To date, the majority of published studies investigating the cause of disease variability in CF report associations between candidate genes and some aspect of the CF phenotype. However, a definitive modifier gene for CF remains to be identified. Despite the challenges posed by searches for modifier effects, studies of affected twins and siblings indicate that genetic factors play a substantial role in intestinal manifestations. Identifying the factors contributing to variation in pulmonary disease, the primary cause of mortality, remains a challenge for CF research.
  • Variant 2:
    HLA:DRB1*0405-DQB1*0401
    Gene:
    HLA
    Genomic location:
    dbSNP ID:
    Target disease:
    Type 1 Diabetes Mellitus(DOID_9744)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Higher in groups a and b than in group c (P=0.021 and 0.0395, respectively) 
    Effect:
    The -1123G>C SNP in the PTPN22 gene promoter and HLA DRB1*0405-DQB1*0401 might influence the concurrence of systemic and organ-specific ADs in patients with type 1 diabetes
    Reference:
    PMID29762907
    Title:
    Genetic differences between type 1 diabetes with and without other autoimmune diseases.
    Species studied:
    Human
    Abstract:
    Clusters of autoimmune diseases (ADs) are present in some people with type 1 diabetes. This clustering suggests the existence of common genetic backgrounds for abnormal autoimmunity in these individuals. However, the genetic differences between type 1 diabetes patients with and without other ADs are not well known.
  • Variant 3:
    HLA:DR13allele
    Gene:
    HLA
    Genomic location:
    dbSNP ID:
    Target disease:
    Gaucher's Disease(DOID_1926)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.011 
    Effect:
    An association was found between DR11 (p=0.008) and DR13 (p=0.011) alleles and the severity of the disease. DR11 allele seems to be associated to neurologic compromise, while DR13 seems to be associated to osteonecrosis.
    Reference:
    PMID23158683
    Title:
    Human leukocyte antigens and Gaucher disease.
    Species studied:
    Human
    Abstract:
    Gaucher disease (GD) is caused by the reduced activity of lysosomal enzyme glucocerebrosidase, which leads to the accumulation of glucocerebroside in macrophages and a chronic stimulation of the immune system. GD is divided into 3 main types according to the presence or absence of neurological involvement and to its presentation (acute or chronic). Gaucher cells show an increase in their expression of HLA-DR antigens on their surface, and there is an increase in levels of antigen-presenting molecules. Over 100 diseases have already been associated to HLA antigens; however, this association has never been studied in GD.
  • Variant 4:
    HLA:DR11allele
    Gene:
    HLA
    Genomic location:
    dbSNP ID:
    Target disease:
    Gaucher's Disease(DOID_1926)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.008 
    Effect:
    An association was found between DR11 (p=0.008) and DR13 (p=0.011) alleles and the severity of the disease. DR11 allele seems to be associated to neurologic compromise, while DR13 seems to be associated to osteonecrosis.
    Reference:
    PMID23158683
    Title:
    Human leukocyte antigens and Gaucher disease.
    Species studied:
    Human
    Abstract:
    Gaucher disease (GD) is caused by the reduced activity of lysosomal enzyme glucocerebrosidase, which leads to the accumulation of glucocerebroside in macrophages and a chronic stimulation of the immune system. GD is divided into 3 main types according to the presence or absence of neurological involvement and to its presentation (acute or chronic). Gaucher cells show an increase in their expression of HLA-DR antigens on their surface, and there is an increase in levels of antigen-presenting molecules. Over 100 diseases have already been associated to HLA antigens; however, this association has never been studied in GD.
  • Variant 5:
    HLA:B35/Cw4
    Gene:
    HLA
    Genomic location:
    dbSNP ID:
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered immune response 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Genetic factors or an HLA-related altered immune response may contribute to the development of leg ulcers in sickle cell anemia.
    Reference:
    PMID3493733
    Title:
    Sickle cell leg ulcers are associated with HLA-B35 and Cw4.
    Species studied:
    Human
    Abstract:
    We determined the HLA-A, B, C, and DR types in nine patients with sickle cell anemia (SS) who had leg ulcers or a history of leg ulcers, and in 29 control patients with SS without leg ulcers. Six (67%) of the nine patients with leg ulcers had HLA-B35 and each of these six patients also had HLA-Cw4. In contrast, only eight (28%) of the 29 control patients with SS had HLA-B35 and only three (10%) of these patients had both HLA-B35 and Cw4. The relative risk for development of leg ulcers in patients with SS who had both HLA-B35 and Cw4 was 17 times greater than that of patients without these antigens or who had only one antigen. The frequency of HLA-B35 was also significantly higher in patients with SS and leg ulcers than in a reference population (31%) consisting of 68 healthy black persons. These results suggest that genetic factors or an HLA-related altered immune response may contribute to the development of leg ulcers in sickle cell anemia.
  • Variant 6:
    HLA:(DRB1*15:02)
    Gene:
    HLA
    Genomic location:
    dbSNP ID:
    Target disease:
    Familial Mediterranean Fever(DOID_2987)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    OR=0.45, P=0.00050 
    Effect:
    Affect penetrance of the MEFV mutations
    Reference:
    PMID25974247
    Title:
    Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever.
    Species studied:
    Human
    Abstract:
    The genotype-phenotype correlation of MEFV remains unclear for the familial Mediterranean fever (FMF) patients, especially without canonical MEFV mutations in exon 10. The risk of FMF appeared to be under the influence of other factors in this case. The contribution of HLA polymorphisms to the risk of FMF was examined as strong candidates of modifier genes.
  • Variant 7:
    HLA:(DRB1*08:02)
    Gene:
    HLA
    Genomic location:
    dbSNP ID:
    Target disease:
    Familial Mediterranean Fever(DOID_2987)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    OR=3.19, 95% CI: (1.53–6.66), P=0.0011 
    Effect:
    Affect penetrance of the MEFV mutations
    Reference:
    PMID25974247
    Title:
    Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever.
    Species studied:
    Human
    Abstract:
    The genotype-phenotype correlation of MEFV remains unclear for the familial Mediterranean fever (FMF) patients, especially without canonical MEFV mutations in exon 10. The risk of FMF appeared to be under the influence of other factors in this case. The contribution of HLA polymorphisms to the risk of FMF was examined as strong candidates of modifier genes.
  • Variant 8:
    HLA:(DRB1*04:03)
    Gene:
    HLA
    Genomic location:
    dbSNP ID:
    Target disease:
    Familial Mediterranean Fever(DOID_2987)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    OR= 3.43, 95% CI: (1.31–8.97), P=0.0075 
    Effect:
    Affect penetrance of the MEFV mutations
    Reference:
    PMID25974247
    Title:
    Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever.
    Species studied:
    Human
    Abstract:
    The genotype-phenotype correlation of MEFV remains unclear for the familial Mediterranean fever (FMF) patients, especially without canonical MEFV mutations in exon 10. The risk of FMF appeared to be under the influence of other factors in this case. The contribution of HLA polymorphisms to the risk of FMF was examined as strong candidates of modifier genes.
  • Variant 9:
    HLA:(B*52:01)
    Gene:
    HLA
    Genomic location:
    dbSNP ID:
    Target disease:
    Familial Mediterranean Fever(DOID_2987)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    OR=0.42, 95% CI: (0.25–0.73), P=0.0013 
    Effect:
    Affect penetrance of the MEFV mutations
    Reference:
    PMID25974247
    Title:
    Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever.
    Species studied:
    Human
    Abstract:
    The genotype-phenotype correlation of MEFV remains unclear for the familial Mediterranean fever (FMF) patients, especially without canonical MEFV mutations in exon 10. The risk of FMF appeared to be under the influence of other factors in this case. The contribution of HLA polymorphisms to the risk of FMF was examined as strong candidates of modifier genes.
  • Variant 10:
    HLA:(B*44:03)
    Gene:
    HLA
    Genomic location:
    dbSNP ID:
    Target disease:
    Familial Mediterranean Fever(DOID_2987)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    OR=0.63, 95% CI: (0.39– 1.00), P=0.047 
    Effect:
    Affect penetrance of the MEFV mutations
    Reference:
    PMID25974247
    Title:
    Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever.
    Species studied:
    Human
    Abstract:
    The genotype-phenotype correlation of MEFV remains unclear for the familial Mediterranean fever (FMF) patients, especially without canonical MEFV mutations in exon 10. The risk of FMF appeared to be under the influence of other factors in this case. The contribution of HLA polymorphisms to the risk of FMF was examined as strong candidates of modifier genes.
  • Variant 11:
    HLA:(B*40:01)
    Gene:
    HLA
    Genomic location:
    dbSNP ID:
    Target disease:
    Familial Mediterranean Fever(DOID_2987)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    OR=2.62, 95% CI:(1.38–4.94), P=0.0023 
    Effect:
    Affect penetrance of the MEFV mutations
    Reference:
    PMID25974247
    Title:
    Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever.
    Species studied:
    Human
    Abstract:
    The genotype-phenotype correlation of MEFV remains unclear for the familial Mediterranean fever (FMF) patients, especially without canonical MEFV mutations in exon 10. The risk of FMF appeared to be under the influence of other factors in this case. The contribution of HLA polymorphisms to the risk of FMF was examined as strong candidates of modifier genes.
  • Variant 12:
    HLA:(B*39:01)
    Gene:
    HLA
    Genomic location:
    dbSNP ID:
    Target disease:
    Familial Mediterranean Fever(DOID_2987)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    OR=3.25, P=0.0012 
    Effect:
    Affect penetrance of the MEFV mutations
    Reference:
    PMID25974247
    Title:
    Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever.
    Species studied:
    Human
    Abstract:
    The genotype-phenotype correlation of MEFV remains unclear for the familial Mediterranean fever (FMF) patients, especially without canonical MEFV mutations in exon 10. The risk of FMF appeared to be under the influence of other factors in this case. The contribution of HLA polymorphisms to the risk of FMF was examined as strong candidates of modifier genes.