Table 1.
SFTPB polymorphic sites by race in the Missouri cohort
| Race | Private Variants | Promoter | Intron | Intron/exon junction | Exon (S/NS) | Total | SNPs/individual |
|---|---|---|---|---|---|---|---|
| African-America (N=197) | 18 | 12 | 38 | 7 | 10 (4/6) | 60 | 6.4±2.9 |
| European-American (N=875) | 24 | 11 | 44 | 5 | 11 (4/7) | 66 | 3.9±2.1 |
| Hispanic (N=34) | 2 | 5 | 16 | 1 | 4 (1/3) | 25 | 4.4±2.4 |
| Asian (N=5) | 0 | 1 | 4 | 0 | 1 (0/1) | 6 | 2.8±0.5 |
| Unknown (N=5) | 0 | 4 | 9 | 0 | 3 (1/2) | 16 | 5.5±3.4 |
| Total Cohort (N=1,116) | 44 | 14 | 59 | 7 | 13 (4/9) | 86 | 4.3±2.4 |
Race: based on birth certificate; N: number of individuals in each race; Private variants: only seen in that race; Promoter: promoter region; Intron: intronic region; Intron/exon junction: within 20 bps of intron/exon junction; Exon (S/NS): Exonic region (synonymous/nonsynonymous); SNPs/individual: average ± SD – significant differences in SNPs/individual include African-American vs. European-American (P<0.001), African-American vs. Hispanic (P<0.001), and African-American vs. Asian (P<0.01); no differences in European-American vs. Hispanic (P=0.2), European-American vs. Asian (P=0.3), or Hispanic vs. Asian (P=0.2) (intron/exon junction variants are also counted in the “Intron” variants column). The low number of variants in the Asian and Unknown populations is attributable to the low number of Asian and Unknown individuals in this cohort.