Table 3. Prevalence in the cohort of probands with atherogenic dyslipidemia of non-synonymous exonic variants in the LPL gene.
| Position | Variant name | Allele frequencies | Comparison in respect to controls without AD | Comparison in respect to other databases | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DNA level | Protein level a | SNP identifier | Probands with AD | Controls without AD | Other databases | P value | Odds ratio | 95% confidence interval | P value | Odds ratio | 95% confidence interval | |
| Exon 2 | c.106 G>A | p.Asp9Asn | rs1801177 | A = 0.009 (n = 1/110) | A = 0.020 (n = 7/348) | A = 0.013 b (n = 10/758) | P = 0.686 d | 0.447 | 0.054 to 3.675 | P = 1.000 d | 0.686 | 0.087 to 5.416 |
| Exon 2 | c.215 G>A | p.Ser45Asn | new # | A = 0.009 (n = 1/110) | A = 0 (n = 0/348) | — | P = 0.240 d | 9.548 | 0.386 to 236.3 | — | — | — |
| Exon 6 | c.953 A>G | p.Asn291Ser | rs268 | G = 0.045 (n = 5/110) | G = 0.006 (n = 2/348) | G = 0.016 b (n = 12/758) | *P = 0.010 d | 8.238 | 1.575 to 43.10 | P = 0.053 d | 2.960 | 1.022 to 8.573 |
| Exon 8 | c.1174 C>G | p.Leu365Val | rs118204078 | G = 0.009 (n = 1/110) | G = 0 (n = 0/348) | G = 0.0001 c (n = 1/8600) | P = 0.240 d | 9.548 | 0.386 to 236.3 | *P < 0.0001 e | 78.89 | 4.899 to 1270 |
| Exon 9 | c.1421 C>G | p.S447* | rs328 | G = 0.064 (n = 7/110) | G = 0.126 (n = 44/348) | G = 0.123 b (n = 93/758) | P = 0.082 d | 0.470 | 0.205 to 1.075 | P = 0.078 d | 0.486 | 0.219 to 1.077 |
aThe name at protein level is without the pro-peptide.
n = number of variant alleles / number of total alleles
bFrequency from database 1000 genomes EUR;
cFrequency from ESP6500:European_American, the only available for L365V SNP.
Depending on the sample size and absolute frequencies in the contingency table:
dFisher exact test or
eχ2 was applied.
# = annotations for the new variant are: NC_000008.11:g.19948306G>A; NG_008855.1:g.14236G>A; NM_000237.2:c.215G>A; NP_000228.1:p.Ser45Asn
* = statistically significant at indicated P level.