Variant mannose-binding lectin alleles are associated with celiac disease

被引：22

作者：

Boniotto, M

Braida, L

Spanò, A

Pirulli, D

Baldas, V

Trevisiol, C

Not, T

Tommasini, A

Amoroso, A

Crovella, S

机构：

[1] Univ Trieste, Dipartimento Sci Reprod & Sviluppo, Genet Sect, I-34137 Trieste, Italy

[2] Univ Trieste, Dipartimento Sci Reprod & Sviluppo, Pediat Unit, I-34137 Trieste, Italy

[3] Burlo Garofolo Childrens Hosp, I-34137 Trieste, Italy

来源：

IMMUNOGENETICS | 2002年 / 54卷 / 08期

关键词：

MBL2; polymorphisms; celiac disease; autoimmunity; apoptosis;

D O I：

10.1007/s00251-002-0504-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In this study, we investigated the role of mannose-binding lectin (MBL) in celiac disease, by performing genotype analysis for the three point mutations in the first exon of the gene in 117 Italian celiac patients (characterized by flat biopsy and positive for anti-endomysium antibody and human transglutaminase antibodies) and 130 pan-ethnic healthy controls. The frequency of homozygous mutant 0/0 was significantly higher in the 117 Italian celiac patients (0.13) than in the 130 pan-ethnic healthy controls (0.05; P=0.0405). An increased frequency of homozygous 0/0 allele was found among patients with celiac disease compared with controls. These results suggest an involvement of MBL in the pathophysiology of celiac disease.

引用

页码：596 / 598

页数：3

共 24 条

[1] The intestinal T cell response to α-gliadin in adult celiac disease is focused on a single deamidated glutamine targeted by tissue transglutaminase [J].