Table 3. Association to the chromosome 5p13 region in Danish multiplex/simplex families, BDD cohort and the Swedish case-control material.
Marker name | Danish families | Swedish-Danish families | Swedish case-control | BDD cohort | MS controls | Pooling of data | |||||||
Patients | Controls | Patients | Controls | ||||||||||
n = 778 | n = 836 | n = 2700 | n = 527 | ||||||||||
Minor allele frequency | Call rate % | p-value | p-value | Genotypefrequency% AA/AB/BB | Genotypefrequency% AA/AB/BB | Call rate% | p-value | Genotypefrequency% AA/AB/BB | Call rate% | Genotypefrequency% AA/AB/BB | p-value | p-value | |
rs1364043 | 59.5/35.3/5.1 | 61.4/33.6/4.9 | 93 | 0.5 | |||||||||
rs878567 | 0.50 | 95 | 0.05 | 0.015 | 25.6/49.9/24.5 | 24.4/51.8/23.8 | 89 | 0.9 | |||||
rs6449693 | 0.50 | 93 | 0.06 | 0.04 | 25.6/50.2/24.1 | 25.9/49.6/24.4 | 81 | 0.9 | |||||
rs6295 | 0.50 | 92 | 0.04 | 0.003 | 27.5/50.9/21.6 | 26.6/49.6/23.8 | 89 | 0.4 | 27.2/50.0/22.9 | 95 | 26.6/50.1/23.4 | 0.4 | 0.01 |
rs1364041 | 77.7/20.6/1.7 | 78.2/19.7/2.0 | 83 | 0.8 | |||||||||
rs356562 | 37.5/49.3/13.3 | 37.3/47.2/15.5 | 94 | 0.5 | |||||||||
rs356570 | 0.38 | 95 | 0.001 | 8.5×10−5 | 38.8/48.6/12.6 | 39.5/46.5/14.0 | 94 | 0.8 | 40.8/45.3/13.9 | 97 | 41.5/44.4/14.1 | 0.6 | 0.003 |
rs12697015 | 73.1/25.3/1.6 | 71.9/26.0/2.2 | 93 | 0.5 | |||||||||
rs6880454 | 0.07 | 91 | 0.5 | 0.02 | 82.8/15.5/1.7 | 83.5/15.1/1.4 | 70 | 0.2 | 82.3/16.8/1.1 | 95 | 83.1/16.1/0.8 | 0.5 | 0.05 |
Allele frequencies and p-values for the Danish multiplex-simplex families and p-values for the Swedish cases-control and BDD studies were obtained from Unphased v. 3.0.6. P-values for the BDD cohort were obtained using controls from the Swedish MS case-control study.
Genotype frequencies and p-values for the genotype test were obtained by using chi2 test.