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.