Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases
-
Infect. Genet. Evol. · Dec 2013
Meta AnalysisReplication study in Chinese Han population and meta-analysis supports association between the MBL2 gene polymorphism and HIV-1 infection.
Mannose-binding lectin (MBL) plays an important role in immunity to HIV-1 infection. The exon1 coding polymorphisms of the MBL2 gene have been implicated in the susceptibility to HIV-1 infection, but the results were controversial. In the present study, a case-control study in a Chinese population was conducted to replicate the association, and then a meta-analysis combing our new data and published data was performed to clarify these findings. ⋯ A/A model (p<0.00001, 95% CI 1.40-2.38). In the subgroup analysis by ethnicity, significant elevated risks were found in Caucasians (recessive model: p<0.0001, 95% CI 1.36-2.51), but not in Asians (recessive model: p=0.10, 95% CI 0.91-2.77). Collectively, our findings from our case-control replication study and meta-analysis suggested that the MBL2 gene exon 1 coding variants were associated with hosts' susceptibility to HIV-1 infection, especially in Caucasians, but not in Asians.
-
Infect. Genet. Evol. · Dec 2013
Single nucleotide polymorphisms of ADRB2 gene and their association with susceptibility for Plasmodium falciparum malaria and asthma in an Indian population.
The essential route to blood parasitaemia in malaria, erythrocyte invasion is facilitated by activation of the G-protein coupled receptor signaling pathway mediated by the β2-adrenoreceptor as one of the proteins on the surface of red blood cells. The effectiveness of bronchodilators and inhaled corticosteroids in the clinical treatment for asthma patients also depend on polymorphisms in the β2-adrenoreceptor gene (ADRB2). In a case control study, individuals affected by Plasmodium falciparum malaria, asthma and controls were tested for association of six ADRB2 single nucleotide polymorphisms (SNPs) viz. rs1042711, rs1801704, rs1042713, rs1042714, rs1042717 and rs1042718, by direct DNA sequencing. ⋯ The pairwise linkage disequilibrium (LD) estimates showed a distinct LD block of all SNP loci (D'=1 or >0.8) in malaria patients. This characteristic haplotype block was disrupted in the controls due to non-significant pairwise LD of the SNP loci; and a more extensive disruption of the block was noted in asthma patients. The study provides evidence for the proposed role of β2-adrenoreceptor mediated molecular mechanisms in etiology of malaria, as well as asthma disease and drug response, for further clinical and therapeutic application studies.