Table 4. Results of family-based and case/control haplotype association analyses for the most associated LD block.a .
Haplotype allele name | SNP allelesb | Extension family-based study (287 families 1,578 individuals, 668 SpA patients) | Pooled case/control study (371 SpA cases/312 controls) | ||||||||||
1 | 2 | 3 | 4 | 5 | 6 | Family frequency | Number of informative pedigrees | Z | FBAT P-value | Frequency | P-value | ||
Cases | Controls | ||||||||||||
- OMNIBUS - | / | 127 | 25.26 | 4.5×10−5 | / | / | 7.02×10−4 | ||||||
H1 | A | A | A | A | C | C | 0.714 | 116 | 4.45 | 8.81×10−6 | 0.75 | 0.71 | 0.095 |
H2 | C | G | G | G | G | T | 0.131 | 67 | −1.11 | 0.267 | 0.08 | 0.15 | 8.75×10−5 |
H3 | C | G | G | A | C | T | 0.094 | 67 | −3.15 | 0.002 | 0.10 | 0.09 | 0.613 |
H4 | A | G | A | A | C | C | 0.037 | 20 | −1.84 | 0.066 | 0.06 | 0.04 | 0.110 |
SNP: single nucleotide polymorphism.
The tested haplotype consisted of the 6 following SNPs: rs7849556 (1); rs10817669 (2); rs10759734 (3); rs6478105 (4); rs10982396 (5); rs10733612 (6).
Results are shown for the omnibus haplotype tests and for the four individual haplotypes called H1 to H4, with an allele frequency high enough to allow meaningful statistical tests. These represented 99% of the alleles. For the family-based study, the number of analyzed families, large sample FBAT statistic (Z), and the association P-value are shown. A positive Z means that the concerned allele was found as overtransmitted to affected offspring; a negative Z conversely indicates an undertransmission. When the omnibus haplotype association is concerned the “Z” symbolizes the chi-square statistic. For this type of test the number of degrees-of-freedom (df) was 4. For case/control analyses the frequency of each haplotype-allele in cases and in controls, as well as the association P-value are displayed. The number of df for the omnibus association was 3.