Association of MTHFR rs1801133 and homocysteine with Legg-Calve-Perthes disease in Mexican patients.

ABSTRACT:

Background

Legg-Calvé-Perthes disease (LCPD) is the avascular osteonecrosis of the proximal femoral epiphysis. It is a rare disease of unclear etiology in children, although alterations in coagulation or the collagen gene have been described and could be associated with its etiology. Our objective was to evaluate the following alterations: COL1A1 (rs1107946, rs2412298), COL2A1 (rs121912891 and rs387106558), MTHFR rs1801133, CBS rs115742905, and PT rs1799963 and their relationship with LCPD.

Methods

DNA was obtained and genotyped by real-time PCR with TaqMan probes. Prothrombin (FII) and homocysteine (Hcy) were determined by a coagulometric method. The variables were described as mean and standard deviation or percentages, and genotypic and allelic distributions were analyzed

SUBMITTER: Buendia-Pazaran JG 

PROVIDER: S-EPMC8905721 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature