Background
Methods
Study population
Biochemical analysis
Genotyping
Statistical analysis
Results
Subject population
Serum amidating activity
Enzyme | Mean | Standard error | Standard deviation | Variance | Skewedness | Kurtosis |
---|---|---|---|---|---|---|
PHM
| 5.51 | 0.10 | 1.11 | 1.24 | 0.24 ± 0.22 | 0.71 ± 0.43 |
PAL
| 19.1 | 0.4 | 4.5 | 20.3 | -0.08 ± 0.22 | 0.14 ± 0.43 |
PHM/PAL
| 0.30 | 0.01 | 0.78 | 0.01 | 0.92 ± 0.22 | 1.34 ± 0.43 |
Relationship with serum metals
SNP analysis
SNP | Ch5 position | Alleles | GERP | Location | MAF |
---|---|---|---|---|---|
rs32680
| 102191715 | C:T | -1.99 | 9.8 kb-5′ | 0.159 |
rs249496
| 102201590 | G:C | 3.31 | 5′UTR | 0.441 |
rs10038600
| 102238502 | G:T | -0.469 | IVS3 | 0.225 |
rs7733485
| 102279540 | A:G | 3.42 | IVS6 | 0.271 |
rs11952361
| 102287920 | A:G | -0.47 | IVS10 | 0.360 |
rs10515341
| 102317117 | G:A | -7.79 | IVS13 | 0.274 |
rs17296280
| 102360747 | A:C | -0.328 | IVS20 | 0.270 |
rs5855
| 102365186 | A:G | 5.93 | 3′UTR | 0.326 |
SNP | rs32680 | rs249496 | rs10038600 | rs7722485 | rs11952361 | rs10515341 | rs17296280 | rs5855 | ||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Geno-type
|
CC (73)
|
CT (39)
|
TT (8)
|
CC (18)
|
CG (48)
|
GG (54)
|
GG (50)
|
GT (52)
|
TT (18)
|
AA (64)
|
AG (43)
|
GG (13)
|
AA (60)
|
AG (45)
|
GG (15)
|
AA (13)
|
AG (46)
|
GG (61)
|
AA (61)
|
AC (47)
|
CC (12)
|
AA (60)
|
AG (47)
|
GG (13)
|
PHM
|
5.57±0.97§
|
5.69±1.25§
|
4.68±1.13§†‡
| 5.54±1.02 | 5.56±1.03 | 5.54±1.19 |
5.31±1.05†‡
|
5.78±1.14§
|
5.56±1.00
| 5.58±1.24 | 5.58±0.91 | 5.32±0.96 |
5.64±1.01
|
5.60±1.09
|
5.03±1.36‡
|
4.74±0.99§†‡
|
5.69±1.16§
|
5.62±1.00§
| 5.55±0.97 | 5.66±1.21 | 5.11±1.20 | 5.65±1.03 | 5.54±1.06 | 5.10±1.43 |
PAL
|
19.3±4.2§
|
19.7±4.6§
|
15.9±4.7§†‡
| 20.2±5.0 | 19.6±3.9 | 18.5±4.6 | 19.2±4.5 | 19.4±4.6 | 18.6±3.7 | 18.7±4.6 | 19.8±3.8 | 19.6±5.3 | 19.3±4.1 | 19.5±5.0 | 18.0±4.0 | 17.1±3.7 | 19.5±5.0 | 19.4±4.1 | 19.3±4.2 | 19.4±4.7 | 17.8±4.7 | 19.4±4.2 | 19.4±4.8 | 17.7±4.1 |
PHM/PAL
| 0.30±0.08 | 0.30±0.07 | 0.32±0.11 | 0.29±0.08 | 0.29±0.07 | 0.31±0.08 | 0.29±0.08 | 0.31±0.08 | 0.31±0.09 | 0.31±0.09 | 0.29±0.06 | 0.29±0.10 | 0.31±0.08 | 0.30±0.07 | 0.29±0.09 | 0.29±0.09 | 0.30±0.07 | 0.30±0.08 | 0.30±0.08 | 0.30±0.07 | 0.30±0.09 | 0.30±0.08 | 0.30±0.07 | 0.30±0.09 |
Cp
| 186±44 | 194±49 | 192±49 |
207±47§
|
195±43
|
178±46§‡
|
196±51§
|
192±41§
|
160±32§†‡
| 182±45 | 197±49 | 198±34 |
183±38†
|
202±51§
| 175±52 |
168±50†
|
198±48§
| 186±42 | 190±44 | 191±49 | 173±41 | 186±38 | 195±53 | 180±51 |
Cu
| 996±209 | 1013±256 | 975±302 |
1076±218§
|
1027±236
|
951±221§‡
|
1045±254§
|
984±223
|
921±144§‡
| 981±226 | 1020±248 | 1030±188 | 989±212 | 1020±225 | 986±314 | 946±308 | 1023±232 | 994±212 | 989±195 | 1020±267 | 980±256 | 998±210 | 1002±228 | 1003±330 |
Zn
| 846±284 | 911±263 | 828±199 | 879±273 | 853±283 | 872±268 | 903±305 | 834±237 | 853±274 | 871±250 | 866±321 | 839±213 | 840±228 | 894±339 | 884±216 | 885±233 | 899±332 | 837±229 | 822±225 | 909±331 | 921±217 | 842±227 | 885±336 | 906±213 |
Cu/Zn
| 1.26±0.36 | 1.17±0.37 | 1.18±0.23 | 1.31±0.39 | 1.26±0.29 | 1.17±0.40 | 1.23±0.35 | 1.24±0.37 | 1.16±0.37 | 1.19±0.38 | 1.26±0.36 | 1.27±0.24 | 1.22±0.30 | 1.25±0.44 | 1.14±0.32 | 1.09±0.29 | 1.24±0.42 | 1.24±0.32 | 1.26±0.34 | 1.20±0.39 | 1.09±0.29 | 1.23±0.30 | 1.24±0.43 | 1.13±0.34 |
Cu/Cp
| 5.51±1.17 | 5.31±0.89 | 5.08±1.00 | 5.33±1.05 | 5.38±1.05 | 5.48±1.12 |
5.43±0.97
|
5.22±1.05§
|
5.94±1.30†
| 5.51±1.05 | 5.32±1.19 | 5.25±0.75 | 5.54±1.17 | 5.160.89 | 5.701.09 | 5.70±1.17 | 5.24±0.88 | 5.50±1.18 | 5.36±1.14 | 5.43±1.00 | 5.71±1.02 | 5.50±1.17 | 5.27±0.95 | 5.57±1.07 |