Gene-Gender Interaction in Systemic Lupus Erythematosus
Author Information
Author(s): Han Shizhong, Guthridge Joel M., Harley Isaac T. W., Sestak Andrea L., Kim-Howard Xana, Kaufman Kenneth M., Namjou Bahram, Deshmukh Harshal, Bruner Gail, Espinoza Luis R., Gilkeson Gary S., Harley John B., James Judith A., Nath Swapan K.
Primary Institution: Oklahoma Medical Research Foundation
Hypothesis
The study evaluates the association between SPP1 polymorphisms and systemic lupus erythematosus (SLE) in a large cohort.
Conclusion
The study suggests that SPP1 is associated with SLE, particularly in males.
Supporting Evidence
- The minor allele of SNPs rs1126616T and rs9138C is significantly associated with higher risk of SLE in males.
- Significant gene-gender interactions were detected for SNPs rs1126772 and rs9138.
- Haplotype analysis identified a significant association with SLE in males.
Takeaway
This study found that a gene called SPP1 is linked to a disease called lupus, especially in boys.
Methodology
Population-based case-control association analyses were performed using logistic regression and other statistical methods to control for population stratification.
Potential Biases
Potential for false positives due to multiple testing and small sample size in males.
Limitations
The sample size for male SLE patients is small, and further validation in an independent cohort is needed.
Participant Demographics
1141 unrelated SLE patients (707 European-American and 434 African-American) and 2009 unrelated controls (1309 EA and 700 AA).
Statistical Information
P-Value
0.0005
Confidence Interval
95% CI 1.28–2.33
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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