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首页> 外文期刊>Cytokine >Association of interleukin-6 and transforming growth factor-beta1 gene polymorphisms with developmental hip dysplasia and severe adult hip osteoarthritis: a preliminary study.
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Association of interleukin-6 and transforming growth factor-beta1 gene polymorphisms with developmental hip dysplasia and severe adult hip osteoarthritis: a preliminary study.

机译：白细胞介素6和转化生长因子β1基因多态性与发育性髋关节发育不良和严重的成人髋骨关节炎的关联：一项初步研究。

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摘要

Developmental hip dysplasia (DDH) greatly contributes to occurrence of severe hip osteoarthritis (OA) in adulthood, but the association between the two is not a perfect one. Both conditions are known to have a strong genetic component. Transforming growth factor beta1 (TGF-beta1) and interleukin-6 (IL-6) are two pro-inflammatory cytokines included in pathogenesis of OA, bone remodeling and development of bone and joint tissues. TGF-beta1 gene has a polymorphic site in the signal sequence ((29)T-->C) and "C allele carriage" is associated with higher circulating TGF-beta1 levels. IL-6 gene has several polymorphic sites in the promoter region including -572T-->C transition associated with higher circulating IL-6 levels. As a preliminary investigation on possible association between these polymorphisms and severe adult hip OA secondary to DDH, 28 consecutive patients and 20 healthy controls were genotyped at these loci. With adjustment for sex, "C allele carriage" in the TGF-beta1 signal sequence and CC genotype ("transition homozygous") at locus -572 in the IL-6 promoter were each associated with severe OA secondary to DDH (OR=13.4, p=0.016 and OR=6.2, p=0.024, respectively). The combination of these genotypes was particularly strongly associated with the disease (OR=11.1, p<0.001). Data support feasibility of larger-scale studies on potential association between TGF-beta1 signal sequence and IL-6 promoter polymorphisms and occurrence of DDH and (un)related severe OA.
机译：发育性髋关节发育不良（DDH）在成年时期严重导致了严重的髋骨关节炎（OA）的发生，但是两者之间的联系并不是一个完美的例子。已知这两种情况都具有很强的遗传成分。转化生长因子beta1（TGF-beta1）和白介素6（IL-6）是OA发病机理，骨骼重塑以及骨骼和关节组织发育中包括的两种促炎细胞因子。 TGF-beta1基因在信号序列中有一个多态性位点（（29）T-> C），“ C等位基因携带”与更高的循环TGF-beta1水平相关。 IL-6基因在启动子区域具有多个多态性位点，包括-572T-> C跃迁，与更高的循环IL-6水平相关。为了初步研究这些多态性与继发于DDH的严重成人髋骨OA之间的关联，在这些基因座对28位连续患者和20位健康对照进行了基因分型。调整性别后，TGF-beta1信号序列中的“ C等位基因携带”和IL-6启动子中-572位点的CC基因型（“过渡纯合”）分别与DDH继发的严重OA相关（OR = 13.4， p = 0.016和OR = 6.2，p = 0.024）。这些基因型的组合与疾病特别相关（OR = 11.1，p <0.001）。数据支持大规模研究TGF-β1信号序列与IL-6启动子多态性之间潜在关联以及DDH和（非）相关严重OA发生的可行性。

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