Table 1.
Frequencies of heterozygotes for rs3840870 and rs3917 in different populations
| Population/ Ethnicity |
Contributing Alleles |
rs3840870 (COL1A1) Heterozygotes |
rs3917 (COL1A2) Heterozygotes |
|---|---|---|---|
| MrOS cohort | 192 | 52% | 46% |
| OI cohort | 192 | 52% | 48% |
| European origin° | 120 | 47% | 49% |
| Youruban Nigeria° | 120 | 50% | 17% |
| Chinese/Japanese° | 120 | 49% | 11% |
| Not stated 35 | 240 | 46% | N/A |
| European* | 200 | N/A | 49% |
| Amerind* | 50 | N/A | 49% |
| Japanese* | 50 | N/A | 35% |
| African* | 42 | N/A | 38% |
°= Data from 1000 Genomes Project (http://www.1000genomes.org/)
*= Data from NCBI dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP/)
Percentages of individuals with a heterozygous genotype of rs3840870 and rs3917 were genotyped in 96 Swedish healthy controls (subset of the MrOS cohort) and in 96 Swedish patients with OI and results are presented here. Allele frequencies for the indels in the National Centre for Biotechnology Information (NCBI) dbSNP database and the 1000 Genomes Project were extrapolated to heterozygous frequencies using the Hardy-Weinberg equilibrium. The number of contributing alleles is stated for each group and the specified ethnicity as stated in the respective submitting sources.