Human Genetics

, 118:309 | Cite as

Genetic linkage of systemic lupus erythematosus to 13q32 in African American families with affected male members

  • Chao Xing
  • Courtney Gray-McGuire
  • Jennifer A. Kelly
  • Phillip Garriott
  • Hulya Bukulmez
  • John B. Harley
  • Jane M. Olson
Original Investigation


Systemic lupus erythematosus (SLE) is a complex autoimmune disorder involving genetic and environmental factors. Previously, our group showed that SLE females with affected male relatives have higher prevalence of renal disease than SLE females with no affected male relatives in a sample of 372 individuals from 159 families. By adding 392 individuals from 181 new families, we replicated this finding in the largest collection of families with affected males, confirming our hypothesis that multiplex SLE families with at least one affected male member (“male families”) comprise a distinct subpopulation of SLE multiplex families. We studied 64 male families by a genome-wide scan for SLE and found the largest signal (lod=3.08) at 13q32 in 18 African American male families using an affected-relative-pair model-free linkage method. Closer examination of IBD sharing at this region suggested a dominant mode of inheritance. Multipoint model-based linkage analysis generated a lod score of 3.13 in the same chromosomal region with a low-disease allele frequency of 0.0004 and a disease penetrance of 0.5 for the 18 African American male families. We performed fine mapping in these and three additional African American male families and the SLE predisposing locus was localized to a region tightly linked to the marker D13S892. We have therefore confirmed the linkage of SLE to 13q32, which was reported previously, and suggested that an SLE susceptibility gene in this region is specific to predisposition of African Americans to a specific form of SLE, with males at high risk.


Systemic Lupus Erythematosus Systemic Lupus Erythematosus Patient African American Family Systemic Lupus Erythematosus Susceptibility Average Marker Distance 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



We extend our thanks to all the patients and family members who participated in this study, as well as the many referring physicians and the US Department of Veterans Affairs. This work was supported by the National Institutes of Health [NIH] grants AI24717, AR42460, and RR03655-15. Some of the results of this paper were obtained by using the program package S.A.G.E., which is supported by a US Public Health Service Resource Grant (RR03655) from the National Center for Research Resources. One hundred and seventy-three pedigrees were obtained from the Lupus Multiplex Registry and Repository (supported by NIH grant N01 AR12253).


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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Chao Xing
    • 1
  • Courtney Gray-McGuire
    • 1
  • Jennifer A. Kelly
    • 2
  • Phillip Garriott
    • 2
  • Hulya Bukulmez
    • 1
  • John B. Harley
    • 2
  • Jane M. Olson
    • 1
  1. 1.Division of Genetic and Molecular Epidemiology, Department of Biostatistics and EpidemiologyCase Western Reserve UniversityClevelandUSA
  2. 2.Arthritis and Immunology ProgramOklahoma Medical Research FoundationOklahoma CityUSA

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