Table 1.
HPGDS variants identified by screening blood specimens from healthy individuals
| Carriera frequency | Allele frequency (95% CI) | ||||
|---|---|---|---|---|---|
| Variant | Gene region |
African Americans |
Whites | African Americans |
Whites |
| IVS2+11 A>C (dbSNP ID: rs2289186) | Intron 2 | 15/47b | 22/47b | 0.80 (0.70–0.87) | 0.64 (0.54–0.73) |
| IVS3+13 T>C (dbSNP ID: rs55672062) | Intron 3 | 3/47c | 1/47c | 0.032 (0.007–0.092) | 0.011 (0–0.047) |
| c.271 A>G (Ile91Val) (dbSNP ID: rs61752528) | Exon 4 | 12/398d | 4/147e | 0.015 (0.008–0.026) | 0.014 (0.004–0.036) |
| c.383 T>C (Met128Thr) (dbSNP ID: rs34124298) | Exon 5 | 4/398d | 3/147e | 0.005 (0.002–0.013) | 0.010 (0.002–0.031) |
| c.559 G>A (Val187Ile) (dbSNP ID: rs76328980) | Exon 6 | 100/1,193f | 3/147e | 0.044 (0.035–0.052) | 0.010 (0.002–0.031) |
| c.597 C>G (Leu199Leu) | Exon 6 | 0/47g | 2/47g | 0 (0–0.048) | 0.021 (0.001–0.080) |
Carrier frequency refers to the heterozygote frequency [or 2q(1-q), where q is the allele frequency]. (See also footnote f below.)
Data were from 47 specimens from the UCLA Tissue Typing Laboratory screened by heteroduplex analysis (primers L12 and R11). The “C” allele is more common than the “A” allele (frequencies, 0.80 and 0.20). Carrier and allele frequencies were calculated from heteroduplex analysis data on the 47 specimens, rather than from sequencing or allele-specific PCR data.
Data were from 47 specimens from the UCLA Tissue Typing Laboratory screened by heteroduplex analysis (primers L6 and R6). The allele frequency was estimated from heteroduplex analysis data on the 47 specimens, rather than sequencing or allele-specific PCR data.
Data were from 47 specimens from the UCLA Tissue Typing Laboratory screened by heteroduplex analysis and 351 specimens genotyped by allele-specific PCR (50 from the UCLA Tissue Typing Laboratory; 82 from our human study of genetic variants of prostaglandin metabolism; 121 controls from the University of Southern California/Kaiser study; 98 controls from the University of North Carolina DHS III study).
Data were from 147 specimens from the UCLA Tissue Typing Laboratory. Forty-seven were screened by heteroduplex analysis, and 100 were genotyped by allele-specific PCR.
Data were from the 398 specimens listed in footnote c in addition to 795 specimens genotyped by allele-specific PCR [255 controls from the Multiethnic Cohort Study; 147 controls from the Women’s Health Initiative observational study; and controls from the North Carolina Colorectal Cancer Study 1 (NCCCS1; 284 specimens) and Study 2 (109 specimens)]. Among the 1,193 individuals genotyped for Val187Ile, there were 100 heterozygotes (carriers) and 3 individuals homozygous for Val187Ile (2 from the Multiethnic Cohort Study and one from NCCCS1).
Data were from 47 specimens from the UCLA Tissue Typing Laboratory screened by heteroduplex analysis. The 2 c.597 C>G mutations occurred in specimens that also had c.559 G>A mutations, seen by DNA sequencing.