Differential association for N-acetyltransferase 2 genotype and phenotype with bladder cancer risk in Chinese population.

Background: N-acetyltransferase 2 (NAT2) is involved in both carcinogen detoxification through hepatic N-acetylation and carcinogen activation through local O-acetylation. NAT2 slow acetylation status is significantly associated with increased bladder cancer risk among European populations, but its association in Asian populations is inconclusive.

Methods: NAT2 acetylation status was determined by both single nucleotide polymorphisms (SNPs) and caffeine metabolic ratio (CMR), in a population-based study of 494 bladder cancer patients and 507 control subjects in Shanghai, China.

The combined risks of reduced or increased function variants in cell death pathway genes differentially influence cervical cancer risk and herpes simplex virus type 2 infection among black Africans and the Mixed Ancestry population of South Africa.

Background: Cervical cancer is one of the most important cancers worldwide with a high incident and mortality rate and is caused by the human papilloma virus (HPV). Among sexually active women who get infected with human papillomavirus (HPV), a small fraction progresses to cervical cancer disease pointing to possible roles of additional risk factors in development of the disease which include host genetic factors and other infections such as HSV-2. Since cellular apoptosis plays a role in controlling the spread of virus-infections in cells, gene variants altering the function of proteins involved in cell death pathways might be associated with the clearing of virus infections.

A brief review on human mtDNA mutations and NRTI-associated mtDNA toxicity and mutations.

Mitochondrion is a cellular organelle that is present in most of the cells and is responsible for producing energy for the cell. Mitochondria have their own double-stranded DNA genome which is distinct from nuclear genome. The replication, recombination and repair of mtDNA are achieved by DNA polymerase-gamma which is encoded by POLG gene.

An investigation of Ph(1) chromosome in Chronic Myeloid Leukemia patients with different treatment modalities and hematological features.

Chronic myeloid leukemia (CML) is characterized by a Ph(1) chromosome that derives through a translocation between chromosomes 9 and 22, i.e., t (9;22).

The genetic factors influencing the development of trichotillomania.

Trichotillomania (TTM), an obsessive-compulsive spectrum disorder (OCSD), is a psychiatric condition characterized by repetitive hair pulling. Evidence from family and twin studies suggest a heritable link of TTM. Functional polymorphisms in genes involved in neuronal pathways might influence the susceptibility to TTM.

A comprehensive review on host genetic susceptibility to human papillomavirus infection and progression to cervical cancer.

Cervical cancer is the second most common cancer in women worldwide. This is caused by oncogenic types of human papillomavirus (HPV) infection. Although large numbers of young sexually active women get HPV-infected, only a small fraction develop cervical cancer.