TABLE 1.
Minor allele frequency (%)d
|
Previously studied SNPs in LPLe |
||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Namea | In gene | SNPb | Amino Acidc |
nt position (chromosome 8) RefSeq Build 34 |
Japanese | African Americans |
Caucasians | dbSNP ID | JSNP ID | Templeton et al. (2000a) | Morabia et al. (2003) |
SNP1f,g | Intron 1 | G/A | — | 19,809,412 | 0.0 | 11.2 | 23.2 | — | — | — | — |
SNP2f | Intron 1 | C/T | — | 19,812,675 | 88.5 | 18.5 | 52.0 | rs10104051 | — | — | — |
SNP3 | Intron 3 | C/A | — | 19,821,060 | 10.6 | 5.9 | 6.6 | rs343 | — | 1 | — |
SNP4f | Exon 4 | G/A | I/I | 19,821,099 | 0.0 | 4.5 | 7.5 | rs248 | — | 3 | Exon 4_b.6 |
SNP5 | Intron 4 | T/C | — | 19,821,279 | 6.3 | 10.2 | 9.6 | rs249 | — | 4 | — |
SNP6 | Intron 5 | C/G | — | 19,822,170 | 16.4 | 20.4 | 14.4 | rs254 | — | 9 | — |
SNP7 | Intron 6 | T/G | — | 19,823,940 | 18.5 | 41.6 | 17.4 | rs269 | IMS-JST003328 | 19 | Exon 6_+73 |
SNP8 | Intron 6 | C/A | — | 19,823,949 | 6.3 | 9.9 | 20.4 | rs270 | — | 20 | Exon 6_+82 |
SNP9 | Intron 6 | T/C | — | 19,826,644 | 18.3 | 34.4 | 23.2 | rs297 | — | 43 | |
SNP10 | Intron 7 | T/C | — | 19,827,207 | 15.0 | 33.0 | 23.5 | rs301 | IMS-JST185262 | 44 | — |
SNP11 | Intron 7 | G/C | — | 19,828,270 | 7.7 | 27.3 | 11.2 | rs312 | — | 51 | |
SNP12 | Exon 8 | C/A | T/T | 19,828,709 | 6.3 | 24.7 | 11.2 | rs316 | — | 55 | Exon 8_b.25 |
SNP13f | Intron 8 | A/G | — | 19,829,712 | 18.5 | 58.0 | 30.3 | rs326 | IMS-JST089898 | 65 | — |
SNP14 | Intron 8 | T/G | — | 19,829,809 | 15.6 | 46.3 | 29.2 | rs327 | IMS-JST089899 | 66 | Exon 9_-90 |
SNP15 | Exon 9 | C/G | S/X | 19,829,997 | 9.6 | 7.2 | 9.2 | rs328 | IMS-JST089900 | — | Exon 9_b.99 |
SNP16 | Intron 9 | C/T | — | 19,833,083 | 9.5 | 7.7 | 10.5 | rs11570891 | — | — | Exon 10_-11 |
SNP17 | Exon 10 | G/A | — | 19,833,103 | 6.3 | 13.8 | 16.0 | rs4922115 | — | — | Exon 10_b.10 |
SNP18 | Exon 10 | A/G | — | 19,833,890 | 5.8 | 29.3 | 15.7 | rs11570892 | — | — | — |
SNP19 | Exon 10 | A/T | — | 19,833,921 | 14.7 | 55.6 | 28.6 | rs3208305 | — | — | — |
SNP20 | Exon 10 | C/T | — | 19,834,236 | 6.2 | 12.1 | 13.5 | rs1059507 | IMS-JST089901 | — | — |
SNP21 | Exon 10 | C/A | — | 19,834,318 | 9.4 | 7.1 | 10.7 | rs3735964 | IMS-JST089902 | — | — |
SNP22 | Exon 10 | T/C | — | 19,834,765 | 15.5 | 53.2 | 29.1 | rs13702 | — | — | — |
SNP23 | Exon 10 | C/A | — | 19,834,942 | 6.6 | 22.0 | 16.0 | rs3866471 | — | — | — |
SNP24 | 3′-flanking | T/G | — | 19,835,169 | 22.3 | 8.0 | 29.0 | rs9644636 | — | — | — |
SNP25f | 3′-flanking | C/T | — | 19,841,194 | 10.9 | 44.4 | 12.0 | rs10096633 | — | — | — |
The number of an SNP corresponds with the location order in the LPL gene. Among them, SNP1 and SNP4 were not informative in the Japanese.
The nucleotide to the left of the slash was the more frequent allele.
X denotes a stop codon.
Individual SNPs were characterized in 113 Japanese, 100 African Americans, and 100 Caucasians as described in materials and methods.
When applicable, the identity of SNPs previously studied by two other groups of researchers is shown for the relevant SNPs characterized in this study.
SNPs derived from Assays-on-Demand (Applied Biosystems).
Assays-on-Demand ID was C_9642874_10.