Title |
CAG Repeat Variants in the POLG1 Gene Encoding mtDNA Polymerase-Gamma and Risk of Breast Cancer in African-American Women
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Published in |
PLOS ONE, January 2012
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DOI | 10.1371/journal.pone.0029548 |
Pubmed ID | |
Authors |
Sami Azrak, Vanniarajan Ayyasamy, Gary Zirpoli, Christine Ambrosone, Elisa V. Bandera, Dana H. Bovbjerg, Lina Jandorf, Gregory Ciupak, Warren Davis, Karen S. Pawlish, Ping Liang, Keshav Singh |
Abstract |
The DNA polymerase-gamma (POLG) gene, which encodes the catalytic subunit of enzyme responsible for directing mitochondrial DNA replication in humans, contains a polyglutamine tract encoded by CAG repeats of varying length. The length of the CAG repeat has been associated with the risk of testicular cancer, and other genomic variants that impact mitochondrial function have been linked to breast cancer risk in African-American (AA) women. We evaluated the potential role of germline POLG-CAG repeat variants in breast cancer risk in a sample of AA women (100 cases and 100 age-matched controls) who participated in the Women's Circle of Health Study, an ongoing multi-institutional, case-control study of breast cancer. Genotyping was done by fragment analysis in a blinded manner. Results from this small study suggest the possibility of an increased risk of breast cancer in women with minor CAG repeat variants of POLG, but no statistically significant differences in CAG repeat length were observed between cases and controls (multivariate-adjusted odds ratio 1.74; 95% CI, 0.49-6.21). Our study suggests that POLG-CAG repeat length is a potential risk factor for breast cancer that needs to be explored in larger population-based studies. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 1 | 3% |
Unknown | 31 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 6 | 19% |
Researcher | 4 | 13% |
Professor > Associate Professor | 4 | 13% |
Student > Bachelor | 3 | 9% |
Student > Master | 3 | 9% |
Other | 6 | 19% |
Unknown | 6 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 10 | 31% |
Biochemistry, Genetics and Molecular Biology | 6 | 19% |
Medicine and Dentistry | 5 | 16% |
Nursing and Health Professions | 1 | 3% |
Arts and Humanities | 1 | 3% |
Other | 2 | 6% |
Unknown | 7 | 22% |