Allele Frequencies (pA, pa) Observed among Unrelated Individuals within the Population-Based Stanislas Cohort
| Gene | Allele (A/a) | Stanislas (2n = 992) | UCSF (2n = 284) | Literature comparison | |
| p2 | p2 | p2 | |||
| apoE | e3/e2,4 | 0.101 | 0.060 | 0.08 | de Knijff et al. (1994) |
| p4 | p4 | p4 | |||
| 0.130 | 0.183 | 0.15 | |||
| pa | pa | pa | |||
| apoB | Thr-71/Ile | 0.307 | 0.324 | 0.36 | Young and Hubl (1989) |
| Arg-3500/Gln | 0 | 0.014 | 0.0015 | Humphries and Talmud (1995) | |
| apoCIII | (−625) T/del | 0.383 | 0.384 | 0.42 | Dammerman et al. (1993) |
| (−482) C/T | 0.257 | 0.261 | 0.24 | Dammerman et al. (1993) | |
| (−455) T/C | 0.370 | 0.380 | 0.42 | Dammerman et al. (1993) | |
| 1100 C/T | 0.247 | 0.317 | 0.21 | Xu et al. (1994) | |
| 3175 C/G | 0.080 | 0.116 | 0.07 | Ordovas et al. (1991) | |
| 3206 T/G | 0.352 | 0.444 | 0.35 | Xu et al. (1994) | |
| CETP | Ile-405/Val | 0.312 | 0.338 | 0.31 | Gudnason et al. (1997) |
| LPL | (−93) T/G | 0.020 | 0.035 | 0.02 | Ehrenborg et al. (1997) |
| Asp-9/Asn | 0.019 | 0.035 | 0.02 | Mailly et al. (1995) | |
| Asn-291/Ser | 0.015 | 0.011 | 0.02 | Reymer et al. (1995) | |
| Ser-447/term | 0.121 | 0.102 | 0.17 | Hata et al. (1990) | |
| PON | Gln-192/Arg | 0.274 | 0.324 | 0.31 | Serrato and Marian (1995) |
| ACE | intron 16 I/D | 0.534 | 0.511 | 0.54 | Ludwig et al. (1995) |
| ATIIR1 | 1166 A/C | 0.300 | 0.303 | 0.29 | Tiret et al. (1994) |
| AGT | Met-235/Thr | 0.403 | 0.412 | 0.36 | Jeunemaitre al. (1992) |
| CBS | Ile-278/Thr | 0.084 | 0.113 | 0.06 | Tsai et al. (1996) |
| 68-bp I | 0.084 | 0.109 | 0.06 | Tsai et al. (1996) | |
| Ala-114/Val | 0.001 | 0.000 | <0.1 | Sebastio et al. (1995) | |
| MTHFR | 677 C/T | 0.384 | 0.352 | 0.38 | Frosst et al. (1995) |
| GPIIIa | Leu-33/Pro | 0.157 | 0.141 | 0.10 | Weiss et al. (1996) |
| figrinogen | (−455) G/A | 0.199 | 0.229 | 0.22 | Humphries et al. (1995) |
| factor V | Arg-506/Gln | 0.026 | 0.014 | 0.03 | Ridker et al. (1995) |
| ELAM | 98 G/T | 0.087 | 0.099 | 0.11 | Wenzel et al. (1996) |
| Ser-128/Arg | 0.087 | 0.099 | 0.09 | Wenzel et al. (1996) | |
| Leu-554/Phe | 0.048 | 0.035 | 0.02 | Wenzel et al. (1996) | |
-
For apoE, p2 is the observed frequency of thee2 allele and p4 is the observed frequency of thee4 allele; the e3 allele frequency is not shown explicitly. For each biallelic marker, except for ACE, the alleles are written in the order of most frequent (alleleA)/least frequent (allele a). For ACE,the risk-associated D allele was designated the variant allele (a). Markers for which no variant alleles were detected are not listed [CETP442, LPL(−39), CBS125, CBS131, CBS307, andMTHFR692]. Representative allele frequencies reported previously are cited for comparison. Allele frequencies are also given for the smaller UCSF Cohort. Although the significance of comparing these values with those of the Stanislas Cohort is limited by the sample sizes, the lipid clinic-based UCSF Cohort showed an overall trend of increased frequencies for lipid metabolism-related alleles that have been implicated in disease.











