Association of IL-23R rs1569922 with Legg-Calve-Perthes disease in Mexican patients and analysis of frequent etiological factors

Abstract

Abstract Background Legg-Calvé-Perthes disease (LCPD) is an idiopathic hip disorder that produces ischemic necrosis of the growing femoral head. LCPD is a complex illness; the lack of knowledge regarding its etiology is considered the main difficulty to its study. Various theories on the etiology of LCPD have been proposed, these include environmental, metabolic, and genetic factors. However, it has not been possible to reach a consensus on what triggers LCPD. The aim of this study was to determine if some genetic polymorphisms associated with pro-inflammatory and hypercoagulable states are involved in the appearance of LCPD. Results This is a comparative study, in which were included a total of 46 children: 23 with LCPD (cases) and 23 without the disease (controls). Hematologic and thrombotic analyses were performed as well as qPCR. Statistically significant differences were found in prothrombin time, Factor V and Factor IX activity, as well as homocysteine concentration, these values imply that there may be hypercoagulable states in patients, which can cause thrombotic events. on the other hand, significant differences were also found in neutrophil lymphocyte ratio and systemic immune inflammation index, showing mayor inflammation states at patients’ group, as well as statistically significant differences were found in the IL-23R rs1569922 polymorphism, it was found that carriers of the T/T and C/T genotypes have increased risk of developing LCPD. Conclusion Our results show a greater hemostatic activity and inflammation in the group of patients, supporting these various theories previously proposed. Therefore, we believe that LCPD is a multifactorial condition in which hemostatic, inflammatory, and genetic factors play a central and triggering role in the disease.