Table 2.
Genotyped Single Nucleotide Polymorphisms (SNPs) in Study Cohort
| Chromosome | Gene | SNP | Alleles |
|---|---|---|---|
| 8 | LPL | rs328 | S/X1 |
| 9 | ABCA1 | rs1800977 | C/T |
| 15 | LIPC | rs1800588 | C/T |
| 16 | CETP | rs708272 | B1/B22 |
| 17 | SHBG | rs1799941 | A/G |
| 17 | SHBG | rs6257 | C/T |
1
rs328 is an LPL gene stop codon SNP, S (serine amino acid) 447Ter (termination codon). LPL S447X (rs328) involves a C→G change at nucleotide 1595 of the LPL gene, which leads to a change in amino acid 447 from a serine (S) to a stop codon (X). Heterozygotes for the X447 allele are displayed as SX and S447 homozygotes are listed as SS.
2
rs708272 is a silent base change SNP; a base substitution from G (B1) to A (B2) in intron 1 of the CETP gene leads to 3 variants, B1B1, B1B2 or B2B2 at Taq1B site (5454G>A).