title: The association between TNFα gene polymorphisms and susceptibility to rheumatoid arthritis in an ethnic Kashmiri population: relationship with disease activity and severity markers.
abstract: OBJECTIVE
  The aim of our study was to determine the genetic associations between polymorphisms of the TNFα gene (-308G/A and -238G/A) with disease susceptibility and severity in patients with rheumatoid arthritis (RA) in an ethnic Kashmiri population.
  
  
  METHODS
  Allele and genotype frequencies of TNFα-308G/A and TNFα-238G/A polymorphisms were compared between 150 RA patients and 200 healthy controls by using polymerase chain reaction - restriction fragment length polymorphism method. Demographic, clinical and serological data were prospectively evaluated. Disease activity score (DAS28) was also assessed.
  
  
  RESULTS
  We did not find any significant association between TNFα-308G/A and TNFα-238G/A polymorphism and RA risk (P > 0.05), but TNFα-308GG genotype was associated significantly with rheumatoid factor seropositivity (P < 0.01) and TNFα-238GA genotype was associated with swollen joint count < 5 (P = 0.04) as well as with less severe disease activity as measured by DAS28 score (P = 0.02).
  
  
  CONCLUSIONS
  Our findings suggest the possible roles of TNFα-308GG and TNFα-238GA as important determinants for the development of certain manifestations and disease severity in RA in ethnic Kashmiri population.
authors.affiliation: Department of Immunology and Molecular Medicine, Sher-I- Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India.
authors.forename: Syed
authors.initials: S
authors.lastname: Shafia
authors.affiliation: Division of Rheumatology, Department of General Medicine, Sher-I- Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India.
authors.forename: Fayaz A
authors.initials: FA
authors.lastname: Sofi
authors.affiliation: Department of Immunology and Molecular Medicine, Sher-I- Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India.
authors.lastname: Dilafroze
authors.affiliation: Department of Immunology and Molecular Medicine, Sher-I- Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India.
authors.forename: Roohi
authors.initials: R
authors.lastname: Rasool
authors.affiliation: Department of Physical Medicine and Rehabilitation, Sher-I- Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India.
authors.forename: Sheikh
authors.initials: S
authors.lastname: Javeed
authors.affiliation: Department of Immunology and Molecular Medicine, Sher-I- Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India.
authors.forename: Zafar A
authors.initials: ZA
authors.lastname: Shah
mesh_terms: D000328:Adult; D001172:Arthritis, Rheumatoid / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006305:Health Status Indicators; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D011446:Prospective Studies; D012307:Risk Factors; D012720:Severity of Illness Index; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D014409:Tumor Necrosis Factor-alpha
keywords: Kashmir; RFLP; TNFα; polymorphism; rheumatoid arthritis