TABLE 4.
Transmission of APOA1/C3/A4/A5 Haplotypes in Families with Familial Combined Hyperlipidemia
| Trios |
Discordant Siblings |
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Transmitted† |
Nontransmitted |
Affected‡ |
Unaffected |
||||||||
| Haplotype Architecture* | Haplotype No. | Frequencies, Probands/Spouses | % | n | % | n | % | n | % | n | P Values, Sum/Average |
| 11111 | 1 | 0.3699/0.4461 | 34.0 | 111 | 43.9 | 143 | 39.4 | 145 | 45.9 | 168 | 0.011/0.012 |
| 11121 | 8 | 0.0163/0.0219 | 3.1 | 10 | 2.1 | 7 | 3.3 | 12 | 1.6 | 6 | 0.518/0.462 |
| 11211 | 2 | 0.2276/0.2258 | 22.7 | 74 | 21.5 | 70 | 21.7 | 80 | 23.0 | 84 | 0.965/0.793 |
| 12111 | 4 | 0.0203/0.0158 | 5.2 | 17 | 2.8 | 9 | 5.2 | 19 | 2.5 | 9 | 0.023/0.009 |
| 12112 | 3 | 0.0854/0.0441 | 6.7 | 22 | 6.13 | 20 | 4.3 | 16 | 3.0 | 11 | 0.275/0.448 |
| 12121 | 5 | 0.0163/0.0078 | 1.5 | 5 | 0.0 | 0 | 1.4 | 5 | 0.3 | 1 | 0.056/0.047 |
| 12211 | 6 | 0.0000/0.0013 | 0.3 | 1 | 0.0 | 0 | 0.3 | 1 | 0.3 | 1 | 0.371/0.371 |
| 21121 | 7 | 0.0976/0.0642 | 11.7 | 38 | 8.9 | 29 | 8.7 | 32 | 6.8 | 25 | 0.109/0.034 |
| 21221 | 9 | 0.0041/0.0062 | 0.6 | 2 | 0.0 | 0 | 0.5 | 2 | 0.5 | 2 | 0.157/0.206 |
| 21122 | 10 | 0.0041/0.0014 | 0.0 | 0 | 0.3 | 1 | 0.3 | 1 | 0.5 | 2 | 0.317/0.317 |
Haplotypes defined by five SNPs at the APOA1/C3/A4/A5 genomic interval. Allele 1 refers to the common allele in the sequence APOA558,892C>T, APOA5c0.56C>G, APOA5−12,238T>C, APOC3c0.386C>G, and APOA1−3,031C>T, and 2 corresponds to the rare allele. Haplotypes shown in bold are discussed in the text.
Allele percentage transmitted to affected offspring calculated from total number of alleles (ie, major plus minor) transmitted to offspring. Conversely, percentage not transmitted to offspring calculated from the number of parental alleles not transmitted to offspring.
Allele percentage transmitted to affected and unaffected siblings calculated from total number of alleles (ie, major plus minor) in the discordant sibling pair data set.