The Association Between Human Leukocyte Antigen Class II Genes and Susceptibility to Achalasia
| Researcher | Population | Methods | Gene | Results |
|---|---|---|---|---|
| Wong et al,41 1989 | Achalasia (n = 40) | HLA phenotyping | HLA-DQw1 | HLA-DQw1 heightened the risk of achalasia by 4.2 times in Caucasians and 3.6 times in blacks. |
| Control (n = 979) | ||||
| De la Concha et al,44 1998 | Achalasia (n = 40) | HLA phenotyping | HLA-DQA1*0101 |
Achalasia was most strongly associated with HLA-DQA1*0101 and 2 HLA-DQaP heterodimers. |
| Control (n = 275) | ||||
| Ruiz-de-León et al,42 2002 | Achalasia (n = 92) | HLA typing; autoantibodies determination | HLA-DQA1*0103 | The patients with achalasia showed a significantly higher frequency of HLA-DQA1*0103 and DQB1*0603, in which found greater prevalence of the antiplexus antibodies. |
| Control (n = 275) | HLA-DQB1*0603 | |||
| Gockel et al,45 2014 | Achalasia (n = 1068) | Genotyping performed on the immunochip; genetic association analysis | HLA-DQβ1 insertion | An eight-residue insertion at position 227-234 of HLA-DQβ1 showed the strongest association with achalasia. |
| Control (n = 4242) | ||||
| Becker et al,46 2016 | Multicenter study (Poland, Sweden, Central Europe, Spain, Italy) | Genotyping and imputation | HLA-DQβ1 insertion (rs28688207) | The HLA-DQβ1 insertion was a strong achalasia risk factor and displayed a geospatial north-south gradient among Europeans (lowest in the northern and highest in the southern). |
| Furuzawa-Carballeda et al,43 2018 | Achalasia (n = 91) | High-resolution HLA typing based on Sanger and NGS | HLA-DRB1*14:54 | The HLA class II alleles HLA-DRB1*14:54:01 and DQB1*05:03:01 and the extended haplotype were risk factors for achalasia in mixed-ancestry Mexican individuals. |
| Control (n = 234) | HLA-DQB1*05:03 | |||
| Vackova et al,47 2019 | Achalasia (n = 347) | genotype-phenotype analysis | HLA-DQβ1 insertion (rs28688207) | The frequency of the HLA-DQB1 insertion differed among achalasia subtypes, being most prevalent in type I (14.6%), followed by type II (9.5%) and III (6.3%). |
| I:II:III (89:210:48) | ||||
| Li et al,48 2021 | Achalasia (n = 330) | Whole-exome sequencing; array-based genome-wide association analysis | HLA-DPB1 missense variants (rs1126511) | Common missense variants rs1126511 (HLA-DPB1) were reproducibly associated with an increased risk of achalasia. |
| Control (n = 2073) |
HLA, human leukocyte antigen.