TABLE 2.
Candidate SNP markers of rheumatoid arthritis (RA) that are located near TBP-sites of human gene promoters as predicted in this work, in comparison with genome-wide patterns.
Data: GRCh38 (Zerbino et al., 2015) dbSNP build 151 (Day, 2010) | Result | Neutral drift (Haldane, 1957; Kimura, 1968; Kasowski et al., 2010) | H0: ↑↓-equivalence | |||||||
No. | SNPs | NG | NS | NR | N> | N< | p(H0: N> < N<) | N↑ | N↓ | p(H0: N↑≡N↓) |
1 | Whole-genome norm for SNPs of TBP-sites (The 1000 Genomes Project Consortium (GPC) et al., 2012) | 104 | 105 | 103 | 200 | 800 | >0.99 | – | – | – |
2 | Clinical SNP markers of diseases at TBP-sites (Ponomarenko et al., 2015) | 33 | 203 | 51 | 14 | 37 | >0.99 | – | – | – |
3 | Candidate SNP markers of RA near clinical SNP markers of diseases at TBP-sites (Chadaeva I. V. et al., 2019) | 18 | 225 | 42 | 12 | 30 | >0.99 | 32 | 10 | <10–4 |
4 | Candidate SNP markers of RA near clinical SNP markers of diseases at TBP-sites (this work) | 25 | 603 | 154 | 84 | 70 | >0.15 | 96 | 58 | <10–2 |
5 | Candidate SNP markers of RA near TBP-sites of the genes most often associated with RA (this work) | 10 | 466 | 69 | 46 | 23 | <10–2 | 42 | 27 | <0.05 |
6 | Candidate SNP markers of RA near TBP-sites of immunostimulatory genes (this work) | 8 | 479 | 114 | 71 | 43 | <0.01 | 71 | 43 | <10–2 |
7 | Candidate SNP markers of RA near TBP-sites of immunosuppressive genes (this work) | 25 | 928 | 179 | 104 | 75 | <0.025 | 70 | 109 | <10–2 |
8 | Total | 68 | 1896 | 516 | – | – | – | – | – | – |
Rheumatoid arthritis (RA): contribute to (↑) and relieve (↓). NG and NS: total numbers of the human genes and of their SNPs meeting the criteria of this study. NR: the total number of the candidate SNP markers increasing (N>) or decreasing (N<) the affinity of TATA-binding protein (TBP) for these promoters studied in this work. N]↑ and N↓: total numbers of the candidate SNP markers that can contribute to or relieve RA, respectively. P(H0): the estimate of probability for the acceptance of this H0 hypothesis, according to a binomial distribution. TBP-site: TBP-binding site.