Table 4. Details of sex-adjusted haplotype analysis for 3-SNP and 4-SNP windows showing the most significant results among the all possible sliding windows.a .
Group 1 | Group 2 | Combined | ||||||||||||||||
Haplotypes | Cases | Controls | OR | P asym | P emp | Cases | Controls | OR | P asym | P emp | Cases | Controls | OR | P asym | P emp | |||
rs3026393-rs1506-rs12421026 (S5-S6-S7) | ||||||||||||||||||
OMNIBUS | – | – | – | 5.48E-10 | 2.00E-05 | – | – | – | 7.93E-12* | 2.00E-05 | – | – | – | 6.28E-23* | 2.00E-05 | |||
TAG ( 111) | 0.4244 | 0.4690 | 0.781 | 0.0511 | 0.9950 | 0.4202 | 0.4852 | 0.757 | 0.0187 | 0.1811 | 0.4185 | 0.4753 | 0.767 | 0.0021 | 0.0315 | |||
TAA ( 112) | 0.0576 | 0.0062 | 12.7 | 6.40E-05 | 0.0045 | 0.1104 | 0.0114 | 20.8 | 3.60E-07 | 2.00E-05 | 0.0844 | 0.0096 | 16.8 | 6.87E-11 | 2.00E-05 | |||
TTG ( 121) | 0.0837 | 0.0612 | 1.38 | 0.1660 | 1.0000 | 0.0403 | 0.0643 | 0.601 | 0.0666 | 05290 | 0.0617 | 0.0627 | 0.989 | 0.9490 | 1.0000 | |||
GTG ( 221) | 0.0774 | 0.0088 | 10.3 | 1.98E-06 | 0.0001 | 0.1194 | 0.0141 | 11.4 | 2.15E-07 | 2.00E-05 | 0.0985 | 0.0122 | 10.7 | 2.22E-12 | 2.00E-05 | |||
GTA ( 222) | 0.3434 | 0.4447 | 0.618 | 0.0002 | 0.0127 | 0.2838 | 0.4005 | 0.592 | 3.14E-05 | 0.00014 | 0.3105 | 0.4209 | 0.606 | 2.29E-08 | 2.00E-05 | |||
rs2071754-rs3026393-rs1506-rs12421026 (S4-S5-S6-S7) | ||||||||||||||||||
OMNIBUS | – | – | – | 3.54E-10* | 2.00E-05 | – | – | – | 4.06E-11 | 2.00E-05 | – | – | – | 1.56E-18 | 2.00E-05 | |||
GTAG (1111) | 0.4173 | 0.4637 | 0.752 | 0.0227 | 0.8958 | 0.4335 | 0.4864 | 0.773 | 0.0301 | 0.2292 | 0.4273 | 0.4739 | 0.761 | 0.0015 | 0.0217 | |||
GTAA (1112) | 0.0518 | 0.0065 | 10.7 | 1.62E-04 | 0.0118 | 0.1123 | 0.0114 | 19.4 | 4.25E-05 | 2.00E-05 | 0.0832 | 0.0095 | 15.9 | 1.88E-10 | 2.00E-05 | |||
GTTG (1121) | 0.0628 | 0.0417 | 1.49 | 0.1620 | 1.0000 | 0.0207 | 0.0371 | 0.529 | 0.0920 | 0.6592 | 0.0419 | 0.0391 | 1.04 | 0.8680 | 1.0000 | |||
AGTG (2221) | 0.0654 | 0.0073 | 10.7 | 1.76E-05 | 0.0011 | 0.1199 | 0.0123 | 13.8 | 3.88E-07 | 2.00E-05 | 0.0939 | 0.0104 | 11.8 | 2.84E-11 | 2.00E-05 | |||
AGTA (2222) | 0.3179 | 0.4274 | 0.583 | 2.62E-05 | 0.0118 | 0.2912 | 0.4014 | 0.600 | 4.95E-05 | 0.0003 | 0.3058 | 0.4132 | 0.594 | 2.90E-09 | 2.00E-05 |
Haplotypes are indicated in both ACGT format and the 1–2 (major-minor allele) format. The 4-SNP haplotypes are arranged in the same order as their corresponding 3-SNP (S5-S6-S7) counterparts for the sake of easy comparison; and the 3′ most marker rs2071754 and its alleles are underlined for easy recognition. Only haplotypes with a frequency of 0.05 or above in either cases or controls are shown. The odds ratios (OR) are shown in boldface if their corresponding haplotypes are significantly associated with high myopia (P emp <0.05 obtained by 50,000 permutations for each group of subjects under study). Note that the minimum P value achievable with 50,000 permutations is 2.00×10−5. The most significant result (asymptotic P values, Wald test; P asym) among all possible sliding windows in each group of subjects is marked by an asterisk (*). All three sets of analysis were adjusted for sex while the combined analysis was also adjusted for subject group.