HLA-G 14 bp Deletion/Insertion Polymorphism in Celiac Disease

Abstract

Our results also indicate that the effect of the HLA-G D/I polymorphism is restricted for HLA-DQ2, and not simply due to the presence of linkage disequilibrium with the major known risk factor; moreover we found that the presence of the I allele confers an increased risk of CD in addition to the risk conferred by HLA-DQ2 alone and that subjects that carry both DQ2 and HLA-G I alleles have an increased risk of CD than subjects that carry DQ2 but not the I allele.

Serological testing for celiac disease in adults

“…Down syndrome or autoimmune thyroid disease, were observed while there was found low or negative values in CD patients on a gluten-free diet for more than five years. Fabris et al 29 confirmed the results of Torres et al Trynka et al recently found 13 new CD risk loci, bringing the number of known loci (including HLA) to 40. 36 …”

“…However, the possibility that these rare cases represent misdiagnosis must be considered. The connection between CD and HLA G 28,29 and its role in tissue typing in the clinic must be further investigated. It seems fair to conclude that if CD-like disease develops in HLA DQ2/DQ8-negative individuals, then it is very rare.…”

“…[28][29][30] In a study by Karell et al, 31 61/1008 CD patients were found to be missing HLA DQ2 and DQ8 hetero-dimers. Of these 61 patients, 57 patients expressed one of the alleles of the HLA DQ2 dimer.…”

Maternal homozygocity for a 14 base pair insertion in exon 8 of the HLA-G gene and carriage of HLA class II alleles restricting HY immunity predispose to unexplained secondary recurrent miscarriage and low birth weight in children born to these patients

“…There are indications that through its impact on sHLA-G secretion, the HLA-G14bp ins/del polymorphism may be clinically important. The G14bp ins/ins genotype has been reported to be associated with increased risk of coronary artery disease [11], invasive cancer of the uterine cervix [12], increased risk of celiac disease [13] and increased risk of acute kidney allograft rejection [14] whereas homozygosity for G14bp del has been associated with susceptibility to active cytomegalovirus infection [15] and a low risk of rejection of heart transplants [16].…”

Association between 14 bp insertion/deletion HLA‐G functional polymorphism and insulin resistance in a cohort of Italian children with obesity

“…The HLA‐G gene is located on 6p21.31 and shows a deletion/insertion (del/ins) polymorphism (rs16375) of a 14‐base‐pair sequence (14 bp) in the exon 8 at the 3′ untranslated region . The presence of the 14 bp insertion allele (+14 bp) has been associated to an unstable mRNA and to a lower soluble HLA‐G (sHLA‐G) protein production, suggesting a different ability to counteract inflammation between genotypes . In obese adult subjects, it has been found an association between impaired glucose metabolism and presence of sHLA‐G, but, so far, no studies have investigated the relationship between HLA‐G 14 bp del/ins polymorphism and metabolic features of obese children and adolescents.…”