An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians
2006

Chemokine Gene Variants and Multiple Sclerosis in Australians

Sample size: 373 publication Evidence: moderate

Author Information

Author(s): Bugeja Matthew J, Booth David, Bennetts Bruce, Heard Robert, Rubio Justin, Stewart Graeme

Primary Institution: The Institute for Immunology and Allergy Research, Westmead Millennium Institute, University of Sydney

Hypothesis

Are polymorphisms in the CC chemokine gene cluster associated with multiple sclerosis susceptibility in Australians?

Conclusion

The study suggests that several chemokines may be associated with susceptibility to multiple sclerosis, warranting further investigation.

Supporting Evidence

  • Four SNPs showed marginally significant transmission distortion.
  • Two independent cohorts were used to confirm findings.
  • 90% of MS patients were of northern European origin.

Takeaway

This study looked at specific genes to see if they are linked to multiple sclerosis in Australians. They found some genes that might be important for understanding the disease.

Methodology

A two-stage analysis involving sequencing of chemokine genes and genotyping of 12 candidate SNPs in MS trio families.

Limitations

The findings may not survive corrections for multiple comparisons, and the sample may not represent all populations.

Participant Demographics

Participants included 373 MS trio families, predominantly of northern European origin, with a female to male ratio of 4:1.

Statistical Information

P-Value

0.03

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-2350-7-64

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