Polymorphisms in MC3R promoter and CTSZ 3'UTR are associated with tuberculosis susceptibility.

ABSTRACT: We have validated the association of two genes on chromosome 20q13.31-33 with tuberculosis susceptibility. A previous genome-wide linkage study performed by Cooke et al identified the genes melanocortin-3-receptor (MC3R) and cathepsin Z (CTSZ) as possible candidates in tuberculosis susceptibility. MC3R has been implicated in obesity studies and is known to play a role in many biological systems including the regulation of energy homeostasis and fat metabolism. CTSZ has been detected in immune cells, such as macrophages and monocytes, and it is hypothesized that the protein may play a role in the immune response. In our South African population a case-control study confirmed the previously reported association with a single-nucleotide polymorphism (SNP) in CTSZ and found an association in M

SUBMITTER: Adams LA 

PROVIDER: S-EPMC3110050 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature