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佩特兹病中的骨骼重塑和骨骼结构基因:rs2073618 和 rs1800795 与墨西哥患者的高风险相关。

Bone Remodeling and Bone Structural Genes in Legg-Calvé-Perthes Disease: The rs2073618 and rs1800795 Are Associated with High Risk in Mexican Patients.

机构信息

Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Ciudad de México, México.

Medicina Genómica, Instituto Nacional de Rehabilitación, Ciudad de México, México.

出版信息

DNA Cell Biol. 2024 Jun;43(6):288-297. doi: 10.1089/dna.2023.0411. Epub 2024 Apr 22.

DOI:10.1089/dna.2023.0411
PMID:38648538
Abstract

Legg-Calve-Perthes disease (LCPD) is an idiopathic avascular necrosis of the pediatric femoral head. Bone remodeling and bone structural genes have the potential to contribute to the progression of LCPD when there is disequilibrium between bone resorption and bone formation. A case-control study was performed to search for associations of several common polymorphisms in the genes Receptor Activator for Nuclear Factor κappa B (), Receptor Activator for Nuclear Factor κappa B Ligand (), osteoprotegerin (), interleukin ()-, and type 1 collagen () with LCPD susceptibility in Mexican children. A total of 23 children with LCPD and 46 healthy controls were genotyped for seven polymorphisms (rs3018362, rs12585014, rs2073618, rs1800795, rs1800796, rs1800012, and rs2586498) in the , , , , and genes by real-time polymerase chain reaction with TaqMan probes. The variant allele (C) of rs1800795 was associated with increased risk of LCPD (odds ratio [OR]: 3.8, 95% confidence interval [CI]: [1.08-13.54],  = 0.033), adjusting data by body mass index (BMI) and coagulation factor V (FV), the association with increased risk remained (OR: 4.9, 95% CI: [1.14-21.04],  = 0.025). The polymorphism rs2073618, specifically GC-GG carriers, was associated with a more than fourfold increased risk of developing LCPD (OR: 4.34, 95% CI: [1.04-18.12],  = 0.033) when data were adjusted by BMI-FV. There was no significant association between rs3018362, rs12585014, rs1800796, rs1800012, and rs2586498 polymorphisms and LCPD in a sample of Mexican children. The rs1800975 and rs2037618 polymorphisms in the and genes, respectively, are informative markers of increased risk of LCPD in Mexican children.

摘要

Legg-Calve-Perthes 病(LCPD)是一种特发性儿童股骨头缺血性坏死。当骨吸收和骨形成之间失衡时,骨重塑和骨结构基因有可能导致 LCPD 的进展。进行了一项病例对照研究,以寻找核因子 κappa B 受体激活剂()、核因子 κappa B 受体激活剂配体()、骨保护素()、白细胞介素()-1 和 1 型胶原()等基因中的几个常见多态性与墨西哥儿童 LCPD 易感性的关联。对 23 名 LCPD 患儿和 46 名健康对照者进行了 7 个多态性(rs3018362、rs12585014、rs2073618、rs1800795、rs1800796、rs1800012 和 rs2586498)的基因分型,采用实时聚合酶链反应 TaqMan 探针法。在调整了体重指数(BMI)和凝血因子 V(FV)的数据后,多态性 rs1800795 的变体等位基因(C)与 LCPD 风险增加相关(比值比[OR]:3.8,95%置信区间[CI]:[1.08-13.54],=0.033)。多态性 rs2073618,特别是 GC-GG 携带者,与 LCPD 风险增加四倍以上相关(OR:4.34,95%CI:[1.04-18.12],=0.033),当数据调整为 BMI-FV 时。在墨西哥儿童样本中,基因的 rs3018362、rs12585014、rs1800796、rs1800012 和 rs2586498 多态性与 LCPD 之间无显著相关性。基因的 rs1800975 和 rs2037618 多态性分别是墨西哥儿童 LCPD 风险增加的信息标记物。

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