A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese
2008

Haplotype Variation of hMYH and Colorectal Cancer Risk in Chinese

Sample size: 481 publication Evidence: moderate

Author Information

Author(s): Chen Huimei, Xu Lizhi, Qi Qiufeng, Yao Yanweng, Zhu Ming, Wang Yaping

Primary Institution: Nanjing University

Hypothesis

The haplotype T/A variation of hMYH is related to colorectal carcinogenesis in Chinese.

Conclusion

The haplotype variant allele of hMYH may increase susceptibility to colorectal cancer in the Chinese population.

Supporting Evidence

  • The frequency of the haplotype variant allele was statistically higher in CRC patients than in controls.
  • The heterozygous frequencies of the hMYH mutation were detected at 4.35% in CRC group and 0.87% in control.
  • Immunofluorescence analysis showed that hMYH protein with haplotype T/A variation presented in both nucleus and mitochondria.

Takeaway

Some people have a change in a gene that might make them more likely to get colon cancer. This study looked at that change in Chinese people.

Methodology

A case-control study with 138 colorectal cancer patients and 343 healthy controls was conducted, analyzing genetic variations and protein localization.

Potential Biases

Selection bias could not be excluded due to the low frequency of the variant allele.

Limitations

The study had a limited sample size and did not investigate the glycosylase activity of the mutants in mitochondria.

Participant Demographics

138 Chinese patients with sporadic colorectal cancer and 343 healthy controls.

Statistical Information

P-Value

0.02

Confidence Interval

1.26 – 20.4

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-2407-8-269

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