Association of mitochondrial displacement loop polymorphisms with risk of colorectal cancer in south Indian population

作者：Govatati Suresh; Saradamma Bulle; Malempati Sravanthi; Dasi Divyamaanasa; Thupurani Murali Krishna; Nagesh Narayana; Shivaji Sisinthy; Bhanoori Manjula; Tamanam Raghava Rao; Nallanchakravarthula Varadacharyulu; Pasupuleti Sreenivasa Rao^*

来源：Mitochondrial DNA Part A, 2017, 28(4-5): 632-637.

DOI：10.3109/24701394.2016.1160076

• Colorectal cancer
• d-loop
• haplotype
• mitochondria
• polymorphism

Mitochondrial displacement loop (D-loop) is the hot spot for mitochondrial DNA (mtDNA) alterations which influence the generation of cellular reactive oxygen species. In the present study, we sequenced the entire mitochondrial D-loop region (1124 bp) of colorectal cancer (CRC) patients (n=174) and controls (n=170) of south Indian origin to identify significant mutations/polymorphisms. Our results showed 152 polymorphisms in the D-loop region of patients and/or controls. Polymorphisms were predominantly located in hypervariable region I (54.6%) than in II (45.4%) of D-loop region. The frequencies of 310'C' insertion (p = 0.0078), T16189C (p = 0.0097) variants and 310'C'ins/16189C haplotype (p = 0.0029) were significantly higher in cases than in controls. Furthermore, strong linkage disequilibrium was observed between nucleotide position 310 and 16189 in cases (D'=0.68) as compared with controls (D'=0.27). In conclusion, mitochondrial D-loop sequence alterations may constitute inherent risk factor for

• 出版日期2017-9