Mitochondrial control region alterations and breast cancer risk: a study in South Indian population.

ABSTRACT:

Background

Mitochondrial displacement loop (D-loop) is the hot spot for mitochondrial DNA (mtDNA) alterations which influence the generation of cellular reactive oxygen species (ROS). Association of D-loop alterations with breast cancer has been reported in few ethnic groups; however none of the reports were documented from Indian subcontinent.

Methodology

We screened the entire mitochondrial D-loop region (1124 bp) of breast cancer patients (n = 213) and controls (n = 207) of south Indian origin by PCR-sequencing analysis. Haplotype frequencies for significant loci, the standardized disequilibrium coefficient (D') for pair-wise linkage disequilibrium (LD) were assessed by Haploview Software.

Principal findings

We identified 7 novel mutations and 170 reported polymorp

SUBMITTER: Tipirisetti NR 

PROVIDER: S-EPMC3907410 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature