Lio D, Scola L, Forte G I, Accomando S, Giacalone A, Crivello A, Cataldo F
Department of Biopathology and Biomedical Methodology, University of Palermo, Italy.
Dig Liver Dis. 2005 Oct;37(10):756-60. doi: 10.1016/j.dld.2005.04.027.
Coeliac disease is associated with DQ2 and DQ8 alleles, but other genes also confer an additional genetic risk.
Defining whether the genetic profiles of interleukin-10, tumour necrosis factor alpha and interferon gamma are associated with an increased coeliac disease risk.
The functionally gene polymorphisms of tumour necrosis factor alpha (-308G/A), interferon gamma (+874T/A) and interleukin-10 (-1082G/A) were typed using sequence specific primer-polymerase chain reaction in 110 Sicilian coeliac disease patients and in 220 Sicilian healthy controls.
No differences in genotype frequencies of interleukin-10 polymorphisms were found between coeliac disease patients and healthy controls. A significant increase of -308A (p<0.033; OR: 1.72; CI: 1.27-2.33) and of +874T (p: 0.0045; OR: 3.02; CI: 1.47-6.21) allele frequencies, both in hetero- and homozygosis, was observed in coeliac patients in comparison with healthy controls. In addition, simultaneous significant higher percentages of -308A and +874T alleles (p: 0.0066; OR: 2.33; CI: 1.42-3.82) as well as simultaneous significant lower percentages of -308A and +874T alleles (p: 0.003; OR: 0.23; CI: 0.10-0.60) were observed in coeliac patients compared with healthy controls.
Genetically determined higher frequencies of -308A tumour necrosis factor alpha and +874T interferon gamma alleles, both in hetero and in homozygosis and mostly whether simultaneous, may play a role in predisposing to gluten intolerance. Subjects positive for -308A tumour necrosis factor alpha and +874T interferon gamma alleles have an increased risk for coeliac disease.
乳糜泻与DQ2和DQ8等位基因相关,但其他基因也会带来额外的遗传风险。
确定白细胞介素-10、肿瘤坏死因子α和干扰素γ的基因谱是否与乳糜泻风险增加相关。
采用序列特异性引物-聚合酶链反应对110例西西里岛乳糜泻患者和220例西西里岛健康对照者进行肿瘤坏死因子α(-308G/A)、干扰素γ(+874T/A)和白细胞介素-10(-1082G/A)功能基因多态性分型。
乳糜泻患者与健康对照者白细胞介素-10多态性的基因型频率无差异。与健康对照者相比,乳糜泻患者杂合子和纯合子中-308A(p<0.033;比值比:1.72;可信区间:1.27-2.33)和+874T(p:0.0045;比值比:3.02;可信区间:1.47-6.21)等位基因频率均显著增加。此外,与健康对照者相比,乳糜泻患者中同时出现-308A和+874T等位基因的百分比显著更高(p:0.0066;比值比:2.33;可信区间:1.42-3.82),以及同时出现-308A和+874T等位基因的百分比显著更低(p:0.003;比值比:0.23;可信区间:0.10-0.60)。
遗传决定的-308A肿瘤坏死因子α和+874T干扰素γ等位基因频率在杂合子和纯合子中均较高,且大多是同时出现,可能在麸质不耐受易感性中起作用。-308A肿瘤坏死因子α和+874T干扰素γ等位基因呈阳性的个体患乳糜泻的风险增加。