title: Association of mitochondrial displacement loop polymorphisms with risk of colorectal cancer in south Indian population.
abstract: 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 CRC.
authors.affiliation: a Department of Biochemistry , Sri Krishnadevaraya University , Anantapur , India.
authors.forename: Suresh
authors.initials: S
authors.lastname: Govatati
authors.affiliation: a Department of Biochemistry , Sri Krishnadevaraya University , Anantapur , India.
authors.forename: Bulle
authors.initials: B
authors.lastname: Saradamma
authors.affiliation: b Department of Biochemistry , DrMRAR PG Center, Krishna University , Nuzvid , India.
authors.forename: Sravanthi
authors.initials: S
authors.lastname: Malempati
authors.affiliation: c Gandhi Institute of Technology and Management Dental College , Visakhapatnam , India.
authors.forename: Divyamaanasa
authors.initials: D
authors.lastname: Dasi
authors.affiliation: d Department of Biotechnology , Chaitanya Postgraduate College , Hanamkonda , India.
authors.forename: Murali Krishna
authors.initials: MK
authors.lastname: Thupurani
authors.affiliation: e CSIR-Centre for Cellular and Molecular Biology , Hyderabad , India.
authors.forename: Narayana
authors.initials: N
authors.lastname: Nagesh
authors.affiliation: e CSIR-Centre for Cellular and Molecular Biology , Hyderabad , India.
authors.forename: Sisinthy
authors.initials: S
authors.lastname: Shivaji
authors.affiliation: f Department of Biochemistry , Osmania University , Hyderabad , India.
authors.forename: Manjula
authors.initials: M
authors.lastname: Bhanoori
authors.affiliation: g Department of Biochemistry , Andhra University , Visakhapatnam , India.
authors.forename: Raghava Rao
authors.initials: RR
authors.lastname: Tamanam
authors.affiliation: a Department of Biochemistry , Sri Krishnadevaraya University , Anantapur , India.
authors.forename: Varadacharyulu
authors.initials: V
authors.lastname: Nallanchakravarthula
authors.affiliation: h Department of Advanced Research Centre , Narayana Medical College & Hospitals , Nellore , India.
authors.forename: Sreenivasa Rao
authors.initials: SR
authors.lastname: Pasupuleti
mesh_terms: D015179:Colorectal Neoplasms / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D015810:Linkage Disequilibrium; D008297:Male; D008928:Mitochondria / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods*; D044465:White People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial
keywords: Colorectal cancer; d-loop; haplotype; mitochondria; polymorphism