Entry - %609903 - SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5; SLEB5 - OMIM
% 609903

SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5; SLEB5


Cytogenetic location: 13q32 Genomic coordinates (GRCh38) : 13:94,400,001-101,100,000


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
13q32 {Systemic lupus erythematosus, susceptibility to, 5} 609903 2

TEXT

For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus, see 152700.


Mapping

Xing et al. (2005) performed a genomewide scan in 64 multiplex SLE families with at least 1 affected male member and found the largest signal (lod score = 3.08) at 13q32 in 18 African American families. Multipoint model-based linkage analysis generated a lod score of 3.13 in the same chromosomal region. Fine mapping in these 18 families and 3 additional African American families with an affected male member localized the locus to a region tightly linked to the marker D13S892.


REFERENCES

  1. Xing, C., Gray-McGuire, C., Kelly, J. A., Garriott, P., Bukulmez, H., Harley, J. B., Olson, J. M. Genetic linkage of systemic lupus erythematosus to 13q32 in African American families with affected male members. Hum. Genet. 118: 309-321, 2005. [PubMed: 16189706, related citations] [Full Text]


Creation Date:
Marla J. F. O'Neill : 2/20/2006
carol : 08/31/2012
alopez : 8/26/2008
carol : 6/2/2008
alopez : 4/19/2006
wwang : 2/21/2006

% 609903

SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5; SLEB5


DO: 9074;


Cytogenetic location: 13q32 Genomic coordinates (GRCh38) : 13:94,400,001-101,100,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
13q32 {Systemic lupus erythematosus, susceptibility to, 5} 609903 2

TEXT

For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus, see 152700.


Mapping

Xing et al. (2005) performed a genomewide scan in 64 multiplex SLE families with at least 1 affected male member and found the largest signal (lod score = 3.08) at 13q32 in 18 African American families. Multipoint model-based linkage analysis generated a lod score of 3.13 in the same chromosomal region. Fine mapping in these 18 families and 3 additional African American families with an affected male member localized the locus to a region tightly linked to the marker D13S892.


REFERENCES

  1. Xing, C., Gray-McGuire, C., Kelly, J. A., Garriott, P., Bukulmez, H., Harley, J. B., Olson, J. M. Genetic linkage of systemic lupus erythematosus to 13q32 in African American families with affected male members. Hum. Genet. 118: 309-321, 2005. [PubMed: 16189706] [Full Text: https://doi.org/10.1007/s00439-005-0061-5]


Creation Date:
Marla J. F. O'Neill : 2/20/2006

Edit History:
carol : 08/31/2012
alopez : 8/26/2008
carol : 6/2/2008
alopez : 4/19/2006
wwang : 2/21/2006



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: April 4, 2025

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