Table 3. MYOC polymorphisms: summary of genetics data for parents and tests of association by family-based association testing under different genetic models in 162 nuclear families.
Marker |
rs2075537 |
NGA17 |
rs235920 |
rs7523603 |
||||||||||
Allele |
1 (G) |
2 (T) |
3 (13) |
4 (14) |
5 (15) |
6 (16) |
1 (T) |
2 (C) |
1 (A) |
2 (G) |
||||
Freq in parents |
0.5633 |
0.4367 |
0.5015 |
0.1836 |
0.3117 |
0.0031 |
0.5355 |
0.4645 |
0.7562 |
0.2438 |
||||
FBAT - Additive model | ||||||||||||||
No. of families |
125 |
125 |
123 |
74 |
107 |
2 |
121 |
121 |
91 |
91 |
||||
Z score |
-0.45 |
0.45 |
1.34 |
1.56 |
-2.59 |
- |
-1.09 |
1.09 |
1.21 |
-1.21 |
||||
p value |
0.6526 |
0.6526 |
0.1797 |
0.12 |
0.0097 |
- |
0.2774 |
0.2774 |
0.2283 |
0.2283 |
||||
Global stat. |
chi2(1)=0.203 |
chi2(3)=11.733 |
chi2(1)=1.180 |
chi2(1)=1.452 |
||||||||||
p=0.6526 |
p=0.0084 |
p=0.2774 |
p=0.2283 |
|||||||||||
FBAT - Dominant model | ||||||||||||||
No. of families |
70 |
95 |
82 |
73 |
94 |
2 |
79 |
88 |
32 |
78 |
||||
Z score |
-0.21 |
0.45 |
0.87 |
1.46 |
-2.47 |
- |
-0.97 |
0.7 |
1.65 |
-0.52 |
||||
p value |
0.8316 |
0.6528 |
0.3843 |
0.1455 |
0.01443 |
- |
0.3316 |
0.4838 |
0.09945 |
0.6004 |
||||
Global stat. |
chi2(2)=0.225 |
chi2(3)=7.366 |
chi2(2)=1.243 |
chi2(2)=2.85 |
||||||||||
p=0.8934 |
p=0.0611 |
p=0.5372 |
p=0.2405 |
|||||||||||
FBAT - Recessive model | ||||||||||||||
No. of families |
95 |
70 |
83 |
18 |
38 |
0 |
88 |
79 |
78 |
32 |
||||
Z score |
-0.45 |
0.21 |
1.17 |
0.76 |
-1.19 |
- |
-0.7 |
0.97 |
0.52 |
-1.65 |
||||
p value |
0.6528 |
0.8316 |
0.2438 |
0.4477 |
0.233 |
- |
0.4838 |
0.3316 |
0.6004 |
0.0995 |
||||
Global stat. |
chi2(2)=0.225 |
chi2(3)=3.212 |
chi2(2)=1.243 |
chi2(2)=2.85 |
||||||||||
p=0.8934 |
p=0.3601 |
p=0.5372 |
p=0.2405 |
|||||||||||
Marker |
NGA19 |
rs2421853 |
rs235858 |
|||||||||||
Allele |
1 (11) |
3 (13) |
4 (14) |
5 (15) |
6 (16) |
7 (17) |
1 (C) |
2 (T) |
1 (T) |
2 (C) |
||||
Freq in parents |
0.0015 |
0.2176 |
0.0077 |
0.7114 |
0.0602 |
0.0015 |
0.7299 |
0.2701 |
0.6003 |
0.3997 |
||||
FBAT - Additive model | ||||||||||||||
No. of families |
1 |
96 |
5 |
115 |
32 |
1 |
102 |
102 |
109 |
109 |
||||
Z score |
- |
-3.03 |
- |
2.1 |
1.13 |
- |
-3.32 |
3.32 |
4.6 |
-4.6 |
||||
p value |
- |
0.0024 |
- |
0.0353 |
0.2579 |
- |
0.0009 |
0.0009 |
0.000004 |
0.000004 |
||||
Global stat. |
chi2(3)=10.162 |
chi2(1)=11 |
chi2(1)=21.146 |
|||||||||||
p=0.0172 |
p=0.0009 |
p=4.0E-6 |
||||||||||||
FBAT - Dominant model | ||||||||||||||
No. of families |
1 |
91 |
5 |
42 |
32 |
1 |
26 |
95 |
54 |
87 |
||||
Z score |
- |
-2.28 |
- |
2.83 |
0.93 |
- |
-1.8 |
2.97 |
2.92 |
-3.9 |
||||
p value |
- |
0.0224 |
- |
0.0047 |
0.3519 |
- |
0.0725 |
0.003 |
0.0035 |
0.000096 |
||||
Global stat. |
chi2(3)=12.711 |
chi2(2)=11.011 |
chi2(2)=21.165 |
|||||||||||
p=0.0053 |
p=0.0041 |
p=2.5E-5 |
||||||||||||
FBAT - Recessive model | ||||||||||||||
No. of families |
0 |
28 |
0 |
107 |
1 |
0 |
95 |
26 |
87 |
54 |
||||
Z score |
- |
-2.53 |
- |
0.92 |
- |
- |
-2.97 |
1.8 |
3.9 |
-2.92 |
||||
p value |
- |
0.0113 |
- |
0.3576 |
- |
- |
0.003 |
0.0725 |
0.000096 |
0.0035 |
||||
Global stat. |
chi2(2)=6.837 |
chi2(2)=11.011 |
chi2(2)=21.165 |
|||||||||||
p=0.0328 | p=0.0041 | p=2.5E-5 |
The polymorphisms are shown in order from the 5' end to the 3' end of the MYOC gene: the first four markers in the top part and the last three markers in the bottom part (See Figure 1 for details). For single nucleotide polymorphisms, the major allele was designated as 1 and minor allele as 2, with the identities of the alleles shown within brackets. For microsatellites, four alleles were found for NGA17 and six alleles for NGA19, with the number of GT repeats shown within brackets. "No. of families" refers to the number of informative families in which there was at least one heterozygous parent while "-" indicates that the corresponding value was not calculated because the number of informative families was less than 10. The degree of freedom (n) is shown within brackets after chi2: χ2(n), where n=1, 2, or 3.