Information and the primer sequences for the studied SNPs in the COL1A1 gene
| SNP | dbSNP* or reference | Polymorphism† | Frequency‡ | Location in gene§ | Primers (5′–3′) |
|---|---|---|---|---|---|
| *SNP ID in the database dbSNP, www.ncbi.nlm.nih.gov/SNP; †Bold-faced letters are the minor alleles; ‡Allele frequencies of the minor alleles; the T allele of SNP3 was not observed in our sample; §The numbers in parentheses are physical distances from the previous SNP in bp units; ¶The Sp1 polymorphism lies at position 1546 on the sequence AF017178 (GenBank accession number). | |||||
| PCOL2 | Garcia-Giralt et al19 | -1997 G/T | 0.152 | Promoter | F: GCACCCTGCCCTAGACCAC |
| R: CCTAGTGCCAGCGACTGCA | |||||
| Sp1¶ | Grant et al2 | 1546 G/T | 0.187 | Intron 1 (3543) | F: CCAATCAGCCGCTCCCATTC |
| R: CATCGGGAGGGCAGGCTC | |||||
| Gly19Cys | Lund et al18 | 3911 G/T | – | Exon 8 (2365) | F: GGAAGACTGGGATGAGGGCA |
| R: GGCTCGCCAGGCTCACC | |||||
| Ala897Thr | rs1800215 | 13 773 G/A | 0.019 | Exon 45 (9862) | F: CTCAGCCTTCCCTGGCCAA |
| R: AGGCGGAAGTTCCATTGGCATC | |||||