Morse J H, Fotino M, Zhang Y, Flaster E R, Peebles C L, Spiera H
Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
J Rheumatol. 1995 Oct;22(10):1872-5.
To determine whether women with scleroderma (systemic sclerosis, SSc) and silicone implants have the same or distinctive immunogenetic findings compared to those reported for idiopathic scleroderma.
In this case-control study, 9 Caucasian women with SSc and silicone implants (7 breast, 1 chin, 1 toe) and 128 healthy Caucasian controls were typed for HLA class II (DRB1,3,4,5, and DQB1) by DNA polymerase chain reaction (PCR) sequence specific oligonucleotide probes (SSOP).
All women with SSc had HLA-DQ5 or DQ7 (DQB1*0301). These 2 alleles have glycine (Gly) or tyrosine (Tyr), and not hydrophobic leucine (Leu), at position 26 in the 2nd hypervariable region of the DQB1 first domain. The increased frequency of at least one Leu 26 negative allele (Gly + or Tyr +) in the women with SSc (100%) compared with controls (73%) was not statistically significant. In contrast, the low frequency of one Leu 26+ allele in the patients (28 vs 57%, p = 0.03, RR = -3.3) and 2 Leu 26+ alleles (0 vs 35%, p = 0.03, RR = -10.4) was significant.
The presence of Gly 26 or Tyr 26 in the HLA-DQB1 first domain in our cases with SSc and silicone implants is consistent with immunogenetic findings reported in Caucasian with idiopathic SSc anticentromere autoantibodies. Whether all the immunogenetic features in SSc associated with silicone implants remain indistinguishable from those seen in idiopathic.
确定患有硬皮病（系统性硬化症，SSc）且植入硅胶的女性与特发性硬皮病患者相比，是否具有相同或独特的免疫遗传学特征。
在这项病例对照研究中，对9名患有SSc且植入硅胶的白种女性（7例乳房植入、1例下巴植入、1例脚趾植入）和128名健康白种对照者进行HLA II类基因（DRB1、3、4、5和DQB1）分型，采用DNA聚合酶链反应（PCR）序列特异性寡核苷酸探针（SSOP）技术。
所有患有SSc的女性均具有HLA-DQ5或DQ7（DQB1*0301）。这两个等位基因在DQB1第一结构域的第二个高变区第26位具有甘氨酸（Gly）或酪氨酸（Tyr），而非疏水性亮氨酸（Leu）。与对照组（73%）相比，患有SSc的女性中至少一个Leu 26阴性等位基因（Gly +或Tyr +）频率增加（100%），但差异无统计学意义。相比之下，患者中一个Leu 26+等位基因的低频率（28%对57%，p = 0.03，RR = -3.3）和两个Leu 26+等位基因的低频率（0对35%，p = 0.03，RR = -10.4）具有统计学意义。
在我们患有SSc且植入硅胶的病例中，HLA-DQB1第一结构域中存在Gly 26或Tyr 26与白种人特发性SSc抗着丝点自身抗体的免疫遗传学研究结果一致。与硅胶植入相关的SSc中所有免疫遗传学特征是否与特发性SSc中的特征仍无法区分。
