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A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.
It is shown that the risk allele of a missense SNP in PTPN22 disrupts the P1 proline-rich motif that is important for interaction with Csk, potentially altering these proteins' normal function as negative regulators of T-cell activation.
Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
It is concluded that a small polyglutamine expansion in the human α1A calcium channel is most likely the cause of a newly classified autosomal dominant spinocerebellar ataxia, SCA6.
STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus.
- E. Remmers, R. Plenge, P. Gregersen
- Medicine, BiologyThe New England journal of medicine
- 6 September 2007
A haplotype of STAT4 is associated with increased risk for both rheumatoid arthritis and systemic lupus erythematosus, suggesting a shared pathway for these illnesses.
Functional variants of OCTN cation transporter genes are associated with Crohn disease
It is reported here that two variants in the organic cation transporter cluster at 5q31 (a missense substitution in SLC22A4 and a G→C transversion in the SLC 22A5 promoter) form a haplotype associated with susceptibility to Crohn disease.
Robust variance-components approach for assessing genetic linkage in pedigrees.
- C. Amos
- MathematicsAmerican journal of human genetics
- 1 March 1994
To assess evidence for genetic linkage from pedigrees, a limited variance-components approach is developed and it is shown that the size of likelihood-ratio tests was appropriate but that the monogenic component of variance was generally underestimated by the likelihood approach.
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
Seven new rheumatoid arthritis risk alleles were identified at genome-wide significance (P < 5 × 10−8) in an analysis of all 41,282 samples, and an additional 11 SNPs replicated at P < 0.05, suggesting that most represent genuine rhearatoid arthritisrisk alleles.
Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1
Two SNPs, rs1051730 and rs8034191, mapping to a region of strong linkage disequilibrium within 15q25.1 containing PSMA4 and the nicotinic acetylcholine receptor subunit genes CHRNA3 and CHRNA5, were significantly associated with risk in both replication sets.
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R/IL12RB2 regions associated with Behçet's disease
The known association of Behçet's disease with HLA-B*51 was confirmed and a second, independent association within the MHC Class I region was identified and the disease-associated IL10 variant was associated with diminished mRNA expression and low protein production.
Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients.
The results suggest that the two XPD polymorphisms have a modulating effect on DRC, especially in the cases, and the pattern was less evident among the controls, although there was a nonsignificant 41% increase in the risk of suboptimal DRC for controls who were homozygous at either locus.