Table 2. Selected single nucleotide variants of the candidate genes, their allele frequencies and Hardy–Weinberg equilibrium.
No. | CHR | Position GRCh37/hg19 | Gene | Region | SNV | Minor allele | Major allele | MAF % | HWE p value |
---|---|---|---|---|---|---|---|---|---|
1 | 1 | 161160872 | ADAMTS4 | 3’UTR | rs34884997 | C | T | 0.12 | 0.68 |
2 | 1 | 161161284 | ADAMTS4 | nonsynonymous | rs41270041 | C | G | 0.18 | 0.52 |
3 | 1 | 161163037 | ADAMTS4 | nonsynonymous | rs4233367 | T | C | 0.18 | 0.76 |
4 | 1 | 161168004 | ADAMTS4 | synonymous | rs33941127 | T | C | 0.40 | 0.85 |
5 | 1 | 161168189 | ADAMTS4 | nonsynonymous | rs34448954 | T | C | 0.13 | 0.42 |
6 | 2 | 113532083 | IL1A | 3’UTR | rs2856836 | G | A | 0.27 | 0.06 |
7 | 2 | 113532236 | IL1A | 3’UTR | rs1304037 | C | T | 0.28 | 0.06 |
8 | 2 | 113537223 | IL1A | nonsynonymous | rs17561 | A | C | 0.27 | 0.06 |
9 | 2 | 113542960 | IL1A | 5’UTR | rs1800587 | A | G | 0.27 | 0.06 |
10 | 2 | 113587121 | IL1B | downstream | rs2853550 | A | G | 0.29 | 0.65 |
11 | 2 | 113590390 | IL1B | synonymous | rs1143634 | A | G | 0.13 | 0.69 |
12 | 7 | 22766246 | IL6 | 5upstream | rs1800796 | C | G | 0.46 | 0.59 |
13 | 7 | 22766645 | IL6 | 5upstream | rs1800795 | C | G | 0.13 | 0.10 |
14 | 7 | 22771156 | IL6 | synonymous | rs2069849 | T | C | 0.05 | 1.00 |
15 | 11 | 102709425 | MMP3 | synonymous | rs520540 | A | G | 0.33 | 0.10 |
16 | 11 | 102713465 | MMP3 | synonymous | rs602128 | A | G | 0.33 | 0.10 |
17 | 11 | 102713620 | MMP3 | nonsynonymous | rs679620 | T | C | 0.33 | 0.21 |
18 | 15 | 89382027 | ACAN | synonymous | rs372041880 | C | A | 0.07 | 0.10 |
19 | 15 | 89382129 | ACAN | nonsynonymous | rs16942318 | A | C | 0.05 | 0.05 |
20 | 15 | 89386652 | ACAN | nonsynonymous | rs34949187 | A | G | 0.11 | 1.00 |
21 | 15 | 89388894 | ACAN | nonsynonymous | rs148070768 | G | A | 0.14 | 0.26 |
22 | 15 | 89388905 | ACAN | synonymous | rs16942341 | T | C | 0.07 | 1.00 |
23 | 15 | 89391160 | ACAN | synonymous | rs2272023 | C | A | 0.34 | 0.42 |
24 | 15 | 89392689 | ACAN | nonsynonymous | rs144501729 | A | C | 0.14 | 0.26 |
25 | 15 | 89398105 | ACAN | synonymous | rs2351491 | T | C | 0.37 | 0.84 |
26 | 15 | 89398553 | ACAN | nonsynonymous | rs35430524 | A | C | 0.05 | 0.05 |
27 | 15 | 89398553 | ACAN | nonsynonymous | rs3743399 | G | A | 0.28 | 0.65 |
28 | 15 | 89398631 | ACAN | nonsynonymous | rs938609 | A | T | 0.37 | 0.70 |
29 | 15 | 89400339 | ACAN | nonsynonymous | rs2882676 | A | C | 0.47 | 0.46 |
30 | 15 | 89400680 | ACAN | nonsynonymous | rs28407189 | G | A | 0.07 | 1.00 |
31 | 15 | 89400963 | ACAN | nonsynonymous | rs79925540 | T | G | 0.16 | 0.48 |
32 | 15 | 89401109 | ACAN | nonsynonymous | rs4932439 | A | G | 0.28 | 0.65 |
33 | 15 | 89401615 | ACAN | synonymous | rs3825994 | G | T | 0.44 | 0.85 |
34 | 15 | 89401616 | ACAN | nonsynonymous | rs76282091 | C | G | 0.16 | 0.48 |
35 | 15 | 89402051 | ACAN | nonsynonymous | rs1042630 | A | G | 0.41 | 0.45 |
36 | 15 | 89402239 | ACAN | synonymous | rs1042631 | T | C | 0.35 | 1.00 |
37 | 15 | 89402596 | ACAN | synonymous | rs698621 | G | T | 0.38 | 0.85 |
38 | 15 | 89415247 | ACAN | nonsynonymous | rs3817428 | G | C | 0.05 | 1.00 |
39 | 15 | 89417238 | ACAN | nonsynonymous | rs1126823 | G | A | 0.36 | 0.84 |
40 | 17 | 76867017 | TIMP2 | synonymous | rs2277698 | T | C | 0.24 | 0.80 |
41 | 21 | 28291455 | ADAMTS5 | 3’UTR | rs1444269 | G | A | 0.26 | 1.00 |
42 | 21 | 28291846 | ADAMTS5 | 3’UTR | rs2298657 | C | T | 0.05 | 1.00 |
43 | 21 | 28292581 | ADAMTS5 | 3’UTR | rs3746836 | A | G | 0.25 | 0.81 |
44 | 21 | 28293095 | ADAMTS5 | 3’UTR | rs229072 | T | A | 0.48 | 0.27 |
45 | 21 | 28293117 | ADAMTS5 | 3’UTR | rs229073 | G | A | 0.48 | 0.27 |
46 | 21 | 28293924 | ADAMTS5 | 3’UTR | rs11700721 | T | C | 0.12 | 1.00 |
47 | 21 | 28294090 | ADAMTS5 | 3’UTR | rs16979423 | G | T | 0.14 | 0.70 |
48 | 21 | 28294143 | ADAMTS5 | 3’UTR | rs9978597 | G | T | 0.04 | 1.00 |
49 | 21 | 28296135 | ADAMTS5 | 3’UTR | rs229078 | T | G | 0.22 | 1.00 |
50 | 21 | 28296324 | ADAMTS5 | 3’UTR | rs151065 | A | G | 0.19 | 0.56 |
51 | 21 | 28296389 | ADAMTS5 | synonymous | rs3746839 | G | A | 0.08 | 1.00 |
52 | 21 | 28302355 | ADAMTS5 | nonsynonymous | rs226794 | A | G | 0.10 | 0.60 |
53 | 21 | 28338298 | ADAMTS5 | nonsynonymous | rs457947 | G | C | 0.07 | 0.46 |
54 | 21 | 28338423 | ADAMTS5 | synonymous | rs55933916 | G | C | 0.08 | 0.50 |
55 | 22 | 33253280 | TIMP3 | synonymous | rs9862 | T | C | 0.50 | 0.46 |
56 | 22 | 33253292 | TIMP3 | synonymous | rs11547635 | T | C | 0.07 | 0.42 |
57 | 22 | 33257322 | TIMP3 | 3’UTR | rs1427384 | C | T | 0.19 | 0.53 |
58 | 22 | 33258050 | TIMP3 | 3’UTR | rs2267184 | T | C | 0.16 | 0.48 |
59 | 22 | 33258288 | TIMP3 | 3’UTR | rs1065314 | C | T | 0.17 | 0.32 |
60 | 23 | 47444879 | TIMP1 | nonsynonymous | rs5953060 | C | G | 0.43 | 0.66 |
61 | 23 | 47444985 | TIMP1 | synonymous | rs4898 | C | T | 0.43 | 0.66 |
62 | 23 | 47445286 | TIMP1 | nonsynonymous | rs6609533 | G | A | 0.43 | 0.66 |
CHR–chromosome number, SNV—single nucleotide variant, MAF–minor allele frequency, HWE—Hardy Weinberg equilibrium, UTR–untranslated region