Rheumatoid arthritis and genetic variations in cytokine genes: a population-based study in Kashmir Valley.
OBJECTIVE
The aim of our study was to determine the genetic associations between polymorphisms of the IL1β gene (-511C/T and +3953C/T) and IL6 gene (-174G/C) with disease susceptibility and severity in patients with rheumatoid arthritis (RA) in ethnic Kashmiri population.


METHODS
Allele and genotype frequencies of IL1β -511 C/T, IL1β +3953 C/T and IL6 -174 G/C polymorphisms were compared between 150 RA patients and 200 healthy controls by using PCR-RFLP method.


RESULTS
We did not find any significant association between IL1b +3953 C/T and IL6 -174 G/C polymorphism and Rheumatoid Arthritis risk (p>0.05), but IL1β +3953 CT genotype was associated significantly with increased SJC and ESR and IL6 -174 GG genotype was associated significantly with increased ESR. However IL1b -511C/T polymorphism was significantly associated with rheumatoid arthritis risk and the carriers of IL1β -511 'C' allele (CC and TC genotypes) appeared to have lower risk for RA development.


CONCLUSIONS
Our findings suggest that the IL1b -511 'C' allele has a protective role from disease development. Furthermore our results suggest a possible role of IL1b +3953 CT and IL6 -174 GG genotypes as disease activity markers of rheumatoid arthritis.
Department of Immunology and Molecular Medicine, Sher-I- Kashmir Institute of Medical Sciences , Soura, Srinagar, Kashmir , India .
Syed
S
Shafia
Dilafroze
Fayaz A
FA
Sofi
Roohi
R
Rasool
Sheikh
S
Javeed
Zafar Amin
ZA
Shah
D000328:Adult; D000368:Aged; D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D016207:Cytokines / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007194:India / Q000453:epidemiology; D053583:Interleukin-1beta / Q000235:genetics; D015850:Interleukin-6 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide
D016207:Cytokines; D053583:Interleukin-1beta; D015850:Interleukin-6