RGD Reference Report - Replication of European rheumatoid arthritis loci in a Pakistani population. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Replication of European rheumatoid arthritis loci in a Pakistani population.

Authors: Jalil, Syed Fazal  Bhatti, Attya  Demirci, F Yesim  Wang, Xingbin  Ahmed, Iltaf  Ahmed, Mushtaq  Barmada, M Michael  Malik, Javaid M  John, Peter  Kamboh, M Ilyas 
Citation: Jalil SF, etal., J Rheumatol. 2013 Apr;40(4):401-7. doi: 10.3899/jrheum.121050. Epub 2013 Feb 1.
RGD ID: 12793072
Pubmed: PMID:23378462   (View Abstract at PubMed)
DOI: DOI:10.3899/jrheum.121050   (Journal Full-text)


OBJECTIVE: Genetic studies have identified several rheumatoid arthritis (RA) susceptibility loci in European-derived populations. The same biological pathways may be involved in determining the RA risk in different population groups. We sought to replicate the association of 33 single-nucleotide polymorphisms (SNP) from 31 RA susceptibility loci confirmed among Europeans in a unique Pakistani population.
METHODS: We genotyped 33 SNP in a sample of 366 Pakistanis that comprised related and unrelated cases and controls. Genotyping was performed using TaqMan assays and the results were analyzed with family case-control software.
RESULTS: Twelve of the 33 SNP were replicated in this sample with significant p values ranging from 7.05E-06 to 3.72E-02, the most significant being the KIF5A-PIP4K2C/rs1678542 SNP.
CONCLUSION: Our observations suggest that a number of RA susceptibility loci and related pathways are shared across different populations.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rheumatoid arthritis susceptibilityIAGP 12793072DNA:snp:intron:c.1717-152C>G (rs1678542) (human)RGD 
rheumatoid arthritis susceptibilityISOKIF5A (Homo sapiens)12793072; 12793072DNA:snp:intron:c.1717-152C>G (rs1678542) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Joint stiffness  IAGP 12793072DNA:snp:intron:c.1717-152C>G (rs1678542) RGD 
Soft tissue swelling of interphalangeal joints  IAGP 12793072DNA:snp:intron:c.1717-152C>G (rs1678542) RGD 
Swelling of proximal interphalangeal joints  IAGP 12793072DNA:snp:intron:c.1717-152C>G (rs1678542) RGD 
Objects Annotated

Genes (Rattus norvegicus)
Kif5a  (kinesin family member 5A)

Genes (Mus musculus)
Kif5a  (kinesin family member 5A)

Genes (Homo sapiens)
KIF5A  (kinesin family member 5A)


Additional Information