Research Topics
Genomes and Genes
| Swapan K NathSummaryAffiliation: Oklahoma Medical Research Foundation Country: USA Publications
| Collaborators
|
Detail Information
Publications
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other lociJohn B Harley
Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, Oklahoma 73104, USA
Nat Genet 40:204-10. 2008..Our results show that numerous genes, some with known immune-related functions, predispose to SLE...
Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant riskDharambir K Sanghera
Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA
BMC Med Genet 9:59. 2008....
A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosusSwapan K Nath
Genetic Epidemiology Unit, Oklahoma Medical Research Foundation, 825 NE 13th St, Oklahoma City, Oklahoma 73104, USA
Nat Genet 40:152-4. 2008..0002 and 0.003; overall meta-analysis P = 6.9 x 10(-22)). The genetic association between ITGAM and SLE implicates the alpha(M)beta2-integrin adhesion pathway in disease development...
Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patientsRyan Webb
Arthritis and Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA
Ann Rheum Dis 70:151-6. 2011..Systemic lupus erythematosus (SLE) is a chronic, multiorgan, autoimmune disease that affects people of all ages and ethnicities...
Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE)Shizhong Han
Genetic Epidemiology Unit, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA
Hum Mol Genet 18:1171-80. 2009..Taken together along with our earlier findings, these results demonstrate that the coding variant, rs1143679, best explains the ITGAM-SLE association, especially in European- and African-derived populations, but not in Asian populations...
Replication of association between a common variant near melanocortin-4 receptor gene and obesity-related traits in Asian SikhsLatonya F Been
Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
Obesity (Silver Spring) 18:425-9. 2010..These observations demonstrate that the genetic variation in MC4R locus can have a moderate contribution in the regional fat deposition and development of central obesity in Asian Indians...
Fine-mapping and transethnic genotyping establish IL2/IL21 genetic association with lupus and localize this genetic effect to IL21Travis Hughes
Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA
Arthritis Rheum 63:1689-97. 2011..This study was undertaken to determine whether this genetic effect could be localized, using a very large cohort of lupus patients and controls...
High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groupsBahram Namjou
Oklahoma Medical Research Foundation, Oklahoma City, USA
Arthritis Rheum 60:1085-95. 2009..STAT-1 and STAT-4 are transcription factors that play key roles in the interferon and Th1 signaling pathways, making them attractive candidates for involvement in SLE susceptibility...
Non-synonymous variant (Gly307Ser) in CD226 is associated with susceptibility to multiple autoimmune diseasesAmit K Maiti
Genetic Epidemiology Unit, Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA
Rheumatology (Oxford) 49:1239-44. 2010..However, shared autoimmunity with CD226 has not been evaluated in non-European populations. The aim of the present study is to assess the association of this single nucleotide polymorphism (SNP) with ADs in non-European populations...
Linkage at 5q14.3-15 in multiplex systemic lupus erythematosus pedigrees stratified by autoimmune thyroid diseaseBahram Namjou
Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, OK 73104, USA
Arthritis Rheum 52:3646-50. 2005..CONCLUSION: These results suggest that stratifying SLE pedigrees by the presence of other autoimmune disorders may facilitate the discovery of genes related to SLE and that 5q14.3-15 harbors a susceptibility gene shared by SLE and AITD...
Common variants within MECP2 confer risk of systemic lupus erythematosusAmr H Sawalha
Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
PLoS ONE 3:e1727. 2008..These findings are potentially related to the overexpression of methylation-sensitive genes in SLE...
ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus with European ancestryXana Kim-Howard
Genetic Epidemiology Unit, Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, OK 73104, USA
Ann Rheum Dis 69:1329-32. 2010..It was hypothesised that the coding variant (R77H), rs1143679, within ITGAM could predict specific clinical manifestations associated with systemic lupus erythematosus (SLE)...
Confirmation of an association between rs6822844 at the Il2-Il21 region and multiple autoimmune diseases: evidence of a general susceptibility locusAmit K Maiti
Oklahoma Medical Research Foundation, Oklahoma City, OK73104, USA
Arthritis Rheum 62:323-9. 2010....
A polymorphism within IL21R confers risk for systemic lupus erythematosusRyan Webb
Oklahoma Medical Research Foundation, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
Arthritis Rheum 60:2402-7. 2009..The aim of this study was to examine the genetic association between single-nucleotide polymorphisms (SNPs) within IL21R and SLE...
Evidence for a susceptibility gene (SLEH1) on chromosome 11q14 for systemic lupus erythematosus (SLE) families with hemolytic anemiaJennifer A Kelly
Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA
Proc Natl Acad Sci U S A 99:11766-71. 2002..Thus, we show strong evidence for an SLE susceptibility gene, SLEH1, near D11S2002 in African-American pedigrees multiplex for SLE that have at least one SLE-affected patient with hemolytic anemia...
Osteopontin and systemic lupus erythematosus association: a probable gene-gender interactionShizhong Han
Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, United States of America
PLoS ONE 3:e0001757. 2008..Our data suggest SPP1 is associated with SLE, and this association is especially stronger in males. To our knowledge, this report serves as the first association of a specific autosomal gene with human male lupus...
Stratification of pedigrees multiplex for systemic lupus erythematosus and for self-reported rheumatoid arthritis detects a systemic lupus erythematosus susceptibility gene (SLER1) at 5p15.3Bahram Namjou
Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, OK 73104, USA
Arthritis Rheum 46:2937-45. 2002..3 in European American pedigrees multiplex for SLE and for self-reported RA. This result predicts the presence of a gene at the top of chromosome 5 in this subset of patients that is important for the pathogenesis of SLE...
A candidate region on 11p13 for systemic lupus erythematosus: a linkage identified in African-American familiesSwapan K Nath
Genetic Epidemiology Unit, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma 73104, USA
J Investig Dermatol Symp Proc 9:64-7. 2004....
Thrombocytopenia identifies a severe familial phenotype of systemic lupus erythematosus and reveals genetic linkages at 1q22 and 11p13R Hal Scofield
Arthritis and Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, USA
Blood 101:992-7. 2003....
Mapping the systematic lupus erythematosus susceptibility genesSwapan K Nath
Arthritis and Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA
Methods Mol Med 102:11-29. 2004..SLE is a complex clinical illness, and investigation of the genetics of the illness based on clinical manifestations revealed linkages not found without consideration of the phenotype of the disease...
Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12-13 and evidence for genetic heterogeneitySwapan K Nath
Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma 73104, USA
Eur J Hum Genet 12:668-72. 2004..Therefore, independent published reports, together with our initial linkage with Hispanics and followed by significant evidence from group-2, provide a strong and confirmed evidence for an SLE susceptibility locus at 16q12-13...
Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican populationMariluz Gomez
Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, 975 NE, 10th Street, BRC458, Oklahoma City, OK 73104, USA
Genomics 84:779-84. 2004..This indicates that Friedreich ataxia in Mexican Mestizos is due to genetic admixture of European mutant FRDA genes in the Native American gene pool that existed prior to contact with Europeans...
Genome-wide association scan of Dupuytren's diseaseJoshua O Ojwang
Department of Arthritis and Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA
J Hand Surg Am 35:2039-45. 2010..The purpose of this study was to identify regions of the entire genome (chromosomes 1-23) associated with the disease by performing a genome-wide association scan on DD patients and controls...
CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysisYoung Ho Lee
Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, 825 N E 13th Street, Oklahoma City, OK 73104, USA
Hum Genet 116:361-7. 2005..978, 95% CI=0.833-1.148, P=0.780). In conclusion, this meta-analysis supports the CTLA-4 exon-1 +49 (A/G) polymorphism influencing the risk for developing SLE, especially in Asians...
Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: evidence for replication and gene-gene interactionHarshal A Deshmukh
Genetic Epidemiology Unit, Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, OK 73104, USA
J Rheumatol 38:1866-70. 2011....
Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysisSwapan K Nath
Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA
Hum Genet 118:225-34. 2005..G11 allele and SLE in whole populations and the association between promoter -A1082G polymorphism and SLE in Asians...
Linkage at 12q24 with systemic lupus erythematosus (SLE) is established and confirmed in Hispanic and European American familiesSwapan K Nath
Arthritis and Immunology Research Program and Genetic Epidemiology Unit, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA
Am J Hum Genet 74:73-82. 2004..017). Therefore, our results have detected, established, and confirmed the existence of a novel SLE susceptibility locus at 12q24 (designated "SLEB4") that may cause lupus, especially in Hispanic and European American families...
Genetics of human systemic lupus erythematosus: the emerging pictureSwapan K Nath
Arthritis and Immunology Program, Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, Oklahoma 73104, USA
Curr Opin Immunol 16:794-800. 2004..Many of the susceptibility effects have been confirmed by independent studies...
Current status of lupus geneticsAndrea L Sestak
Oklahoma Medical Research Foundation, Arthritis and Immunology Research Program, 825 NE 13th St, Oklahoma City, Oklahoma 73104, USA
Arthritis Res Ther 9:210. 2007..In this review we will present what is known, what is disputed, and what remains to be discovered in the world of lupus genetics...
Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody productionJulio E Molineros
Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, United States of America
PLoS Genet 9:e1003222. 2013..Together with molecular modeling, our results establish a distinct role for IFIH1 in apoptosis, inflammation, and autoantibody production, and explain the molecular basis of these three risk alleles for SLE pathogenesis...
Detection of catalase as a major protein target of the lipid peroxidation product 4-HNE and the lack of its genetic association as a risk factor in SLEAnil D'Souza
Department of Arthritis and Immunology, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA
BMC Med Genet 9:62. 2008..Hence we investigated the effects of a genetic polymorphism of catalase on risk and severity of SLE in 48 pedigrees with African American ancestry...
SLEB3 in systemic lupus erythematosus (SLE) is strongly related to SLE families ascertained through neuropsychiatric manifestationsSwapan K Nath
Genetic Epidemiology Unit, Oklahoma Medical Research Foundation, Oklahoma City, USA
Hum Genet 111:54-8. 2002..The results demonstrated a significant increase of LOD score to detect SLEB3 when the families were further ascertained through NP, compared with the analysis of all EA SLE families together...
Multiple Autoantibodies Display Association with Lymphopenia, Proteinuria, and Cellular Casts in a Large, Ethnically Diverse SLE Patient CohortRufei Lu
Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA Department of Medicine and Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
Autoimmune Dis 2012:819634. 2012....
Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis dataHarshal Deshmukh
Genetic Epidemiology Unit, Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, 825 Northeast 13th Street, Oklahoma City, Oklahoma 73104 USA
BMC Proc 3:S31. 2009..Because multiple autoimmune diseases share common genetic origin, these could be areas of immense interest for further genetic and clinical association studies...
Genetics of systemic lupus erythematosus: how far have we come?Andrea L Sestak
Department of Arthritis and Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK 73003, USA
Rheum Dis Clin North Am 31:223-44, v. 2005..These association studies are accumulating in greater numbers as the technology to determine the genotype at a given locus becomes more accessible. This article discusses the results of both types of studies...
Gene network analysis of small molecules with autoimmune disease associated genes predicts a novel strategy for drug efficacyAmit K Maiti
Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, 825 N E 13th Street, Oklahoma City, OK 73104, United States
Autoimmun Rev 12:510-22. 2013..Additionally, we have also identified several interlinking genes in the pathways that could be used for designing future association studies...
Segregation analysis of blood pressure and body mass index in a rural US communitySwapan K Nath
Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, USA
Hum Biol 74:11-23. 2002..Our analysis results support the segregation of a major gene for BMI, but not for SBP or DBP. A recessive locus effect provided the best explanation for BMI where approximately 43% of the variance of BMI was due to this gene...
Systemic lupus erythematosus susceptibility loci defined by genome scan meta-analysisYoung Ho Lee
Division of Rheumatology, Korea University, Seou, Korea
Hum Genet 118:434-43. 2005..1-3q25.33 (Psumrnk=0.01376) may be an ethnicity-specific SLE linkage. In summary, the present GSMA have identified two statistically significant genomic regions that reconfirmed the SLE linkage at chromosomes 6 and 16...
Meta-analysis of TNF-alpha promoter -308 A/G polymorphism and SLE susceptibilityYoung Ho Lee
Division of Rheumatology, Korea University, Seoul, Korea
Eur J Hum Genet 14:364-71. 2006..8-2.3, P=0.2) or African (OR=1.2, CI=0.6-2.5, P=0.59) populations. In summary, this meta-analysis demonstrates that the TNF-alpha promoter -308 A/G polymorphism may confer susceptibility to SLE, especially in European-derived population...
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysisMohammed Naveed
Center for Arab Genomic Studies (CAGS, Dubai, United Arab Emirates
Am J Med Genet A 140:1440-6. 2006..1. Two-point linkage and haplotype analyses did not show the involvement of the above regions in this family...
Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34Uppala Radhakrishna
Green Cross Blood Bank and Genetic Research Centre, Paldi, India
Am J Hum Genet 79:580-5. 2006..17 cM (7.42 Mb) between SNPs rs951095 and rs726455. Thus, we have identified a novel genomic region on 13q33.1-34 that harbors a high-risk variant for CL-P in these Indian families...
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1Mohammed Naveed
Center for Arab Genomic Studies CAGS, Dubai, United Arab Emirates
Am J Hum Genet 80:105-11. 2007..2-q43 and to a region of approximately 1.96 cM (4.1 Mb) between rs623155 and rs1547251 on 6q14.1. The study identified two novel loci for the SHFLD phenotype in this UAE family...
