The association between methionine synthase A2756G polymorphism and hematological cancer: A meta-analysis.

BACKGROUND: Numerous studies have focused on the association of methionine synthase (MS) A2756G polymorphism and acute hematological cancer risk. However, the results remain inconsistent. Therefore, a meta-analysis was performed to derive a more precise estimate of the association between them. METHODS: This meta-analysis involved 25 articles (26 studies) including 8641 hematological cancer patients and 15,498 controls. The pooled odds ratios (ORs) and their corresponding 95% confidence intervals (CIs) of the association between MS A2756G polymorphism and the risk of hematological cancer were calculated. RESULTS: Overall, no significant increased risks were found between MS A2756G polymorphism and hematological cancer risk under allelic homozygote (GA vs AA: OR = 0.98, 95% CI = 0.89-1.07, P = .62), heterozygote (GG vs AA: OR = 0.99, 95% CI = 0.85-1.15, P = .91), dominant (AG+GG vs AA: OR = 0.99, 95% CI = 0.90-1.08, P = .93), and recessive (GG vs AG+AA: OR = 1.00, 95% CI = 0.86-1.16, P = .97) models, respectively. In the stratified analyses by ethnicity and source of controls, there were still no significant associations between them in all genetic models. CONCLUSIONS: Therefore, these findings demonstrate that MS A2756G polymorphism may not be a risk factor for hematological cancer.

[Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta].

Osteogenesis imperfecta (OI) is heritable bone fragility,which is inherited as an autosomal dominant trait clinical presentation. Clinical symptom, in general, is dominantly inherited OI with blue sclerae, hearing loss and mild-moderate skeletal deformity. Genetic loci of OI have been mapped to17q21.31-q22 and 7q22.1, in which COL1A1 and COL1A2 are known to be the causal genes. In this work,we performed linkage analysis in a kindred with autosomal dominant hereditary OI. A tight linkage to the markers on chromosome 17q21.31-q22 (maximum two-point lod score: 9.31 at theta = .00) was observed. Sequence analysis of COL1A1 revealed a single-base mutation that converted the consensus sequence at the 5' end of intron 26 from GT to AT to form an abnormal splicing site leading to OI.