TABLE 1.
Characteristics of 8 MAT1A single nucleotide polymorphisms (SNPs) genotyped in the Boston Puerto Rican Health Study (BPRHS) and the Nutrition, Aging, and Memory in Elders (NAME) Study populations1
| SNP name2 | NCBI accession (rs no.) | HGVS name3 | Distance from TSS (bp) | Gene region | BPRHS: minor allele frequency (SE) | NAME: minor allele frequency (SE) |
| MAT1A_m1038 | rs7919385 | NT_030059.12g.798988A→G | −1038 | Upstream | 0.01 (0.01) | — |
| MAT1A_i1262 | rs9421467 | NM_000429.2c.346+916G→C | 1262 | Inron 1 | 0.07 (0.01) | — |
| MAT1A_A142A | rs1143694 | NM_000429.2c.681G→A | 9383 | Exon 5 | 0.19 (0.01) | — |
| MAT1A_i15173 | rs2994388 | NM_000429.2c.1340+14A→G | 15,173 | Intron 8 | 0.40 (0.02) | — |
| MAT1A_i15752 | rs4933327 | NM_000429.2c.1341–11G→A | 15,752 | Intron 8 | 0.20 (0.01) | — |
| MAT1A_3U1510 | rs7087728 | NM_000429.2c.1510G→A | 15,965 | 3′-UTR | 0.25 (0.01) | 0.22 (0.01) |
| MAT1A_d18777 | rs3851059 | NT_030059.12g.779174G→A | 18,777 | Downstream | 0.30 (0.02) | 0.26 (0.01) |
| MAT1A_d28866 | rs10887701 | NT_030059.12g.769085C→T | 28,866 | Downstream | 0.41 (0.02) | — |
1
bp, base pairs; TSS, transcription start site (distance in bp along the chromosome); NCBI, National Center for Biotechnology Information; UTR, untranslated region.
2
SNP name: m indicates that the SNP is located in the promoter or upstream of the gene, i is in the intron, and d is downstream or beyond the transcribed region.
3
HGVS names of SNPs are based on nomenclature recommendations of the Human Genome Variation Society (http://www.hgvs.org/rec.html).