A Multilocus Genotyping Assay for Candidate Markers of Cardiovascular Disease Risk

Table 2.

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.

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  1. Genome Res. 9: 936-949

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