Table 2.
Characteristics of the 22 identified SNPs by re-sequencing the APOA5 gene locus in Kuwaiti Arabs (n = 100).
| SNP Ref. no. | Position on submitted sequence | Chromosomal position | Variant Type | Minor allele frequency |
|---|---|---|---|---|
| rs1729411** | g.4462C>T | g.116792959G>A | Upstream | 0.097 |
| rs34003087** | g.4541G>A | g.116792880C>T | Upstream | 0.051* |
| rs648450 | g. 937C>T | g.116662785G>A | Intron | 0.005* |
| rs651821∧ | g. 1143G>A | g.116661525C>T | 5′ UTR | 0.095 |
| rs367787801 | g. 1273G>C | g.116662449C>G | Intron | 0.015* |
| rs41416350 | g. 1281G>A | g.116662441C>T | Intron | 0.005* |
| rs3135506 | g. 1315C>G | g.116662407G>C | Missense (p.Ser19Trp) | 0.055* |
| rs12287066 | g. 1391C>A | g.116662331G>T | Synonymous (p.Ile44=) | 0.13 |
| rs36077557 | g. 1687delC | g.116662034delG | Intron | 0.31 |
| rs2072560 | g. 1896A>G | g.116661826T>C | Intron | 0.08 |
| Novel 1 | g. 2197G>A | g.116662127C>T | Synonymous (p.Val140 = ) | 0.005* |
| rs3135507** | g. 2234G>A | g.116661488C>T | Missense (p.Val153Met) | 0.045* |
| rs369952307 | g. 2813G>A | g.116660909C>T | Missense (p.Asp346Asn) | 0.005* |
| rs619054 | g. 2909C>T | g.116660813G>A | 3′ UTR | 0.26 |
| rs192708363 | g. 2937C>A | g.116660785G>T | 3′ UTR | 0.005* |
| rs34089864** | g. 2954C>T | g.116660768G>A | 3′ UTR | 0.015* |
| rs2266788 | g. 3036C>T | g.116660686G>A | 3′ UTR | 0.085* |
| rs148759216** | g. 3167insAG | g.116660554_116660555insCT | 3′ UTR | 0.004* |
| Novel 2 | g. 3222C>T | g.116660500G>A | 3′ UTR | 0.005* |
| rs33984246** | g. 3272T>C | g.116660450A>G | 3′ UTR | 0.04* |
| rs115102021 | g. 3650C>T | g.116660072G>A | Downstream | 0.005* |
| rs142958146** | g. 3714T>C | g.116660008A>G | Downstream | 0.04* |
- Chromosomal position is based on chromosome 11 published reference sequence (NC_000011.10) in the NCBI GeneBank database (based on genome assembly GRCh37/hg:19.- Location on the gene is based on the APOA5 published reference sequence (NT_033899.8) in the GeneBank data base.
*
Only heterozygotes identified with the rare allele.
**
MAF >0.05 reported in the 1,000 genome project and Gene Bank for other populations. All frequencies were found in HWE (p > 0.05) except for rs36077557. The highlighted are the variants further analyzed for association with lipid levels.