Comprehensive epidemiological and genotype-phenotype analyses in a large European sample with idiopathic achalasia

Becker, Jessica; Niebisch, Stefan; Ricchiuto, Arcangelo; Schaich, Eva J; Lehmann, Gavin; Waltgenbach, Tobias; Schafft, Annette; Hess, Timo; Lenze, Frank; Venerito, Marino; Hüneburg, Robert; Lingohr, Philipp; Matthaei, Hanno; Seewald, Stefan; Scheuermann, Uwe; Kreuser, Nicole; Veits, Lothar; Wouters, Mira; Gockel, Henning R; Lang, Hauke; Vieth, Michael; Müller, Michaela; Eckardt, Alexander J; von Rahden, Burkhard HA; Knapp, Michael; Boeckxstaens, Guy; Fimmers, Rolf; Nöthen, Markus M; Schulz, Henning G; Gockel, Ines; Schumacher, Johannes

doi:10.1097/MEG.0000000000000602

Comprehensive epidemiological and genotype-phenotype analyses in a large European sample with idiopathic achalasia

Author:

Becker, Jessica

Niebisch, Stefan ; Ricchiuto, Arcangelo ; Schaich, Eva J ; Lehmann, Gavin ; Waltgenbach, Tobias ; Schafft, Annette ; Hess, Timo ; Lenze, Frank ; Venerito, Marino ; Hüneburg, Robert ; Lingohr, Philipp ; Matthaei, Hanno ; Seewald, Stefan ; Scheuermann, Uwe ; Kreuser, Nicole ; Veits, Lothar ; Wouters, Mira ; Gockel, Henning R ; Lang, Hauke ; Vieth, Michael ; Müller, Michaela ; Eckardt, Alexander J ; von Rahden, Burkhard HA ; Knapp, Michael ; Boeckxstaens, Guy ; Fimmers, Rolf ; Nöthen, Markus M ; Schulz, Henning G ; Gockel, Ines ; Schumacher, Johannes

Keywords:

Science & Technology, Life Sciences & Biomedicine, Gastroenterology & Hepatology, IMMUNE-MEDIATED DISEASES, VARICELLA-ZOSTER-VIRUS, RHEUMATOID-ARTHRITIS, PARKINSONS-DISEASE, ESOPHAGEAL ACHALASIA, AUTOIMMUNE-DISEASES, LEWY BODIES, MYENTERIC PLEXUS, MEASLES-VIRUS, ASSOCIATION, Adult, Alleles, Autoimmune Diseases, Case-Control Studies, Chickenpox, Comorbidity, Esophageal Achalasia, Europe, Family, Female, Genotype, HLA-DQ beta-Chains, Herpes Zoster, Herpesvirus 3, Human, Heterozygote, Humans, Hypersensitivity, Male, Middle Aged, Phenotype, Pregnancy, Pregnancy Complications, Psoriasis, Sjogren's Syndrome, Virus Diseases, White People, 1103 Clinical Sciences, 3202 Clinical sciences

Abstract:

Although an eight-residue insertion in HLA-DQβ1 has been recently identified as a genetic risk factor for idiopathic achalasia, other risk factors are still unknown. In the present study, we carried out an epidemiological survey and a genotype-phenotype (G×P) analysis to gain further insights into the etiology of achalasia.