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. 2011 Nov 14;74(6):522–547. doi: 10.1111/j.1365-3083.2011.02602.x

Table 3.

 Details of polymorphism, other disease association, P‐values and OR, population type and case studies with references.

Polymorphism Disease associations/No associations (others) P‐values and OR Population Cases and controls (n) References
TNF, IFNA10, IFNA17, IFNG genes A statistically significant increase of CFTR mutation carriers in the population of patients with sarcoidosis versus the control population was found 6.1 × 10−8 Greek 89 Greek patients with sarcoidosis and 212 control Makrythanasis et al. [77]
rs1799724 Significant increase in rs1799724 CC genotype in ms. The rs1800629 and rs361525 Not associated with MS <0.001 Turkish 86 patients and 150 controls Akcali et al. [78]
rs1799964, rs1799724, rs1800750 Haplotype rs1799964 T/rs1800630 C/rs1799724 C/rs1800629 G increased the risk of susceptibility to AS compared to random controls P (corr) < 0.001, OR = 2.756 China 119 patients,95 healthy controls, and 135 random healthy controls Chung et al. [84]
rs1800629, rs361525, rs3093661 G‐alleles of rs361525 and rs3093661 SNPs have been associated with higher risk of Graves’ disease as compared with A‐alleles. No significant difference of rs1800629 allelic frequency OR = 2.385 Chinese 436 patients and 316 control subjects Gu et al. [86]
rs1800629 rs1800629 A‐allele is associated with overall susceptibility to asthma OR = 1.37, P = 0.04 China 2409 patients and 3266 controls Gao et al. [118]
rs1800629 A‐allele increases the production of TNF‐α. TNF2A allele frequency was elevated in patients with PBC OR = 1.21, P = 0.042 US and Canada 866 patients with PBC and 761 controls Juran et al. [119]
rs1799964 rs1799964 associated with bowel disease 0.00004 UK white Caucasoid 133 patients with IBD and 354 healthy controls Ahamad et al. [174]
rs1800629 rs1800629 and an atopic history impact the severity of irritation USA 68 healthcare workers with irritant hand dermatitis Davis et al. [121]
rs1800629, rs361525 Significantly increased risk was associated with the variant GA + AA genotypes of rs361525, compared with the GG genotype and significantly reduced psoriasis risk was associated with the variant GA + AA genotypes of the rs1800629, compared with the GG genotype OR = 2.60 Various ethnicities 997 cases, 943 control for rs361525 and 1156 cases, 1083 control for rs1800629 Li et al. [122]
rs1800630, rs1800629 Association between TNF haplotype and plasma levels of plasminogen activator factor inhibitor 1 (PAI‐1) Significant Swedish 1209 subjects with MI Mellick [62]
rs1800629 Cardiovascular risk factors did not differ between TNF‐alpha rs1800629 high‐/low‐producer genotype groups Turkish 102 non‐diabetic patients Yilmaz et al. [124]
rs1800630, rs1800629, rs1799964 SDICH risks were positively associated with the minor alleles rs1799964 C and – rs1800629 A in men but inversely associated with rs1800630 A in females (P = 0.03) P = 0.03 and P = 0.005, respectively Taiwan 260 SDICH patients and 368 controls Chen et al. [125]
rs1800629, rs361525 Association with homocysteine levels in patients with ischemic strokes and silent brain infarctions <0.05 Koreans 257 patients with SBIs, and 216 control Kim et al. [127]
rs1800629 A significantly increased risk of SAD was observed in the carriers of A‐allele OR = 2.635, P < 0.01 Southern China 112 patients and 121 controls Yang et al. [129]
rs1800630, rs1800629, rs1799964 No significant difference in genotype distribution of rs1800629 in AD was found and no association for rs1800630 and rs1799964. A significant association between −850 polymorphism and AD risk TT vs. TC + CC: pooled odds ratio [OR], 1.61; 1.08–2.29; P = 0.02 Caucasian Australians and Northern Europeans Meta analysis Di Bona et al. [130]
Promoter SNPs No positive associations were found with AD Italian cohort 253 patients with AD and 356 controls Tedde et al. [131]
rs1800629 Carriers of the A‐allele demonstrated better attentional processes as compared to G‐allele carriers. The distribution of rs1800629 genotypes did not significantly differ from the Hardy–Weinberg equilibrium 0.202 Caucasian 67 genetically unrelated healthy participants Beste et al. [136]
rs1800629 rs1800629 A‐allele was associated with worsened labile anger <0.05 USA 105 patients with hepatitis C Lotrich et al. [137]
rs361525 Associated with increased risk of new ICH 0.003 Northern California 280 patients Achrol et al. [139]
rs1799964 Variability of the rs1799964 polymorphism may be associated with susceptibility to endometriosis. The frequency of the rs1799964 C allele was significantly lower in stage IV endometriosis cases than controls P = 0.04; OR = 1.75, 1.019–3.01 Japanese 185 female neonates born at the Hayashi Clinic in Kobe, Japan Asghar et al. [5]
rs1799964, rs180063, rs1799724, rs1800629, rs361525 Alleles −1031 and −863, individually or in combination in the haplotype −1031C −863A −857C −308G 238G, were associated with lower muscle mass in men. Specifically, carriers of −1031C, compared with non‐carriers, exhibited lower arm muscle mass 0.01 European descent 1050. Most participants are of European descent Liu et al. [141]
rs361525, rs1800629 No association with Paget’s disease of bone ns Spanish patients 172 patients and 150 healthy controls Corral‐Gudino et al. [142]
rs2229094 of LTA Strong association between rs2229094 and development of Proliferative Vitreoretinopathy 0.0283 Spain 450 patients and 312 controls Rojas et al. [143]
rs1800629, rs361525, rs909253 The rs361525 and rs909253 but not rs1800629, polymorphic variants are associated with early RM. Haplotype rs1800629 G/rs361525 A/rs909253 G show association with RM Confirmed by regression analysis Tunisia 372 RM women and 274 age‐matched parous control women Zammiti et al. [145]

SAD, sporadic Alzheimer’s disease; ICH, intracranial haemorrhage; MS, multiple sclerosis; PBC, primary biliary cirrhosis; AD, Alzheimer’s disease; SDICH, spontaneous deep intracerebral hemorrhage; RM, recurrent miscarriage; CFTR, cystic fibrosis conductance regulator; ns, non‐significant; AS, ankylosing spondylitis; IBD, inflammatory bowel disease; MI, myocardial infarction; TNF, tumor necrosis factor.