Willeke P, Gaubitz M, Schotte H, Becker H, Domschke W, Schlüter B
Department of Medicine B, Muenster University Hospital, Muenster, Germany.
Scand J Rheumatol. 2008 Jul-Aug;37(4):293-9. doi: 10.1080/03009740801910353.
To determine the impact of a broad spectrum of different polymorphisms within the interleukin-10 (IL-10) promoter gene on disease susceptibility to primary Sjogren's syndrome (pSS), clinical manifestations, and autoantibody production.
We genotyped 111 unrelated German Caucasian patients with pSS and 145 healthy controls for the single nucleotide polymorphisms (SNPs) at positions -2849, -2776, -2769, -2763, -1349, -1082, -851, -819, -657, and -592 and for the microsatellites IL10.R and IL10.G. Allele and haplotype distributions were compared between patients and controls and between subgroups of patients with different clinical and laboratory findings.
We found no significant differences in the allele or haplotype frequencies between pSS patients and healthy controls. After Bonferroni correction we found a significant association of the ACC haplotype (at the -1082, -819, and -592 loci) with immunoglobulin (Ig)A antibodies to anti-alpha-fodrin.
Overall we found no associations of IL-10 promoter polymorphisms with the susceptibility to pSS in our cohort. The finding that the production of IgA anti-alpha-fodrin antibodies is associated with polymorphisms within the IL-10 promoter region suggests a genetic contribution to the generation of these antibodies.
确定白细胞介素-10（IL-10）启动子基因内多种不同多态性对原发性干燥综合征（pSS）疾病易感性、临床表现及自身抗体产生的影响。
我们对111例无亲缘关系的德国白种人pSS患者和145例健康对照进行基因分型，检测-2849、-2776、-2769、-2763、-1349、-1082、-851、-819、-657和-592位点的单核苷酸多态性（SNP）以及微卫星IL10.R和IL10.G。比较患者与对照之间以及具有不同临床和实验室检查结果的患者亚组之间的等位基因和单倍型分布。
我们发现pSS患者与健康对照之间的等位基因或单倍型频率无显著差异。经Bonferroni校正后，我们发现ACC单倍型（在-1082、-819和-592位点）与抗α - fodrin免疫球蛋白（Ig）A抗体显著相关。
总体而言，我们在研究队列中未发现IL-10启动子多态性与pSS易感性之间存在关联。IL-10启动子区域内的多态性与IgA抗α - fodrin抗体产生相关这一发现表明，这些抗体的产生存在遗传因素。
