An African Ancestry-Specific Allele of CTLA4 Confers Protection against Rheumatoid Arthritis in African Americans
2009

CTLA4 Allele and Rheumatoid Arthritis in African Americans

Sample size: 1217 publication 10 minutes Evidence: high

Author Information

Author(s): Kelley James M., Hughes Laura B., Faggard Jeffrey D., Danila Maria I., Crawford Monica H., Edberg Yuanqing, Padilla Miguel A., Tiwari Hemant K., Westfall Andrew O., Alarcón Graciela S., Conn Doyt L., Jonas Beth L., Callahan Leigh F., Smith Edwin A., Brasington Richard D. Jr, Allison David B., Kimberly Robert P., Moreland Larry W.

Primary Institution: University of Alabama at Birmingham

Hypothesis

Are CTLA4 polymorphisms associated with rheumatoid arthritis in African Americans?

Conclusion

An African ancestry-specific genetic variant of CTLA4 is associated with protection from rheumatoid arthritis in African Americans.

Supporting Evidence

  • The G allele of rs231778 was found to be significantly less common in RA patients compared to controls.
  • The odds ratio for having RA with the G allele was 0.19, indicating a protective effect.
  • The study included a large sample size of 1217 participants, enhancing the reliability of the findings.
  • The association was independent of other known risk factors for RA.

Takeaway

A specific gene variant helps protect African Americans from rheumatoid arthritis, which is less common in their population.

Methodology

The study involved genotyping 12 haplotype tagging SNPs in 505 African American RA patients and 712 controls.

Potential Biases

Potential bias in sample collection and genotyping errors due to the minority focus.

Limitations

The study's sample size is limited due to its focus on a minority population, which may introduce bias.

Participant Demographics

Participants were self-identified African Americans with rheumatoid arthritis.

Statistical Information

P-Value

2.4×10−28

Confidence Interval

0.13–0.26

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pgen.1000424

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