Genetic Variants in Complement Factor H and Related Genes Linked to Lupus
Author Information
Author(s): Zhao Jian, Wu Hui, Khosravi Melanie, Cui Huijuan, Qian Xiaoxia, Kelly Jennifer A., Kaufman Kenneth M., Langefeld Carl D., Williams Adrienne H., Comeau Mary E., Ziegler Julie T., Marion Miranda C., Adler Adam, Glenn Stuart B., Alarcón-Riquelme Marta E., Pons-Estel Bernardo A., Harley John B., Bae Sang-Cheol, Bang So-Young, Cho Soo-Kyung, Jacob Chaim O., Vyse Timothy J., Niewold Timothy B., Gaffney Patrick M., Moser Kathy L., Kimberly Robert P., Edberg Jeffrey C., Brown Elizabeth E., Alarcon Graciela S., Petri Michelle A., Ramsey-Goldman Rosalind, Vilá Luis M., Reveille John D., James Judith A., Gilkeson Gary S., Kamen Diane L., Freedman Barry I., Anaya Juan-Manuel, Merrill Joan T., Criswell Lindsey A., Scofield R. Hal, Stevens Anne M., Guthridge Joel M., Chang Deh-Ming, Song Yeong Wook, Park Ji Ah, Lee Eun Young, Boackle Susan A., Grossman Jennifer M., Hahn Bevra H., Goodship Timothy H. J., Cantor Rita M., Yu Chack-Yung, Shen Nan, Tsao Betty P.
Primary Institution: University of California Los Angeles
Hypothesis
Are genetic variants in the CFH and CFHRs region associated with systemic lupus erythematosus (SLE) susceptibility?
Conclusion
The study found that specific genetic variants in the CFH and CFHRs region are associated with an increased risk of developing systemic lupus erythematosus across multiple ethnic groups.
Supporting Evidence
- Significant allelic associations with SLE were detected in European Americans and African Americans.
- The deletion of CFHR3 and CFHR1 was identified as a likely causal variant for SLE.
- Homozygous deletion of CFHR3-1Δ conferred a higher risk of SLE than heterozygous deletion.
- Genetic variants in the CFH-CFHRs region were consistently associated with SLE across multiple ethnic groups.
Takeaway
Scientists looked at genes related to the immune system to see if they make people more likely to get lupus, and they found some that do.
Methodology
The study assessed 60 SNPs in the CFH-CFHRs region for association with SLE in a case-control study involving 15,864 subjects from four ethnic groups.
Limitations
The study did not address whether rare variants in the CFH-CFHRs region may contribute to the development of SLE.
Participant Demographics
Participants included European Americans, African Americans, Asians, and Hispanics.
Statistical Information
P-Value
6.6×10−8
Confidence Interval
1.18[1.11–1.26]
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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