Dataset of allele and genotype frequencies of the three functionally significant polymorphisms of the MMP genes in Russian patients with primary open-angle glaucoma, essential hypertension and peptic ulcer.
PMID 32695863 | PMCID PMC7365972 | DOI 10.1016/j.dib.2020.106004 · Data in brief · 2020 · View on PubMed ↗
Data on the allele and genotype frequencies of the three functionally significant single nucleotide polymorphisms (SNPs) of the matrix metalloproteinases (MMP) genes (rs1799750 MMP1, rs3918242 and rs17576 MMP9) in Russian patients with primary open-angle glaucoma (POAG), essential hypertension (EH) and peptic ulcer (PU) are presented. Association studies identified these SNPs as possible significant markers associated with many multifactorial disorders, including POAG, EH, and PU. The frequencies of alleles and genotypes of the three SNPs in Russian patients with POAG, EH, and PU were presented separately for the entire study sample, females, and males, respectively. The data can be used as a reference for the Russian population.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MMP1 | “Data on the allele and genotype frequencies of the three functionally significant single nucleotide polymorphisms (SNPs) of the matrix metalloproteinases (MMP) genes (rs1799750 MMP1, rs3918242 and rs17576 MMP9) in Russian patients with primary open-angle glaucoma (POAG), essential hypertension (EH) and peptic ulcer (PU) are presented.” | 0.98 | hgnc_dict_v1 |
| gene | MMP9 | “Data on the allele and genotype frequencies of the three functionally significant single nucleotide polymorphisms (SNPs) of the matrix metalloproteinases (MMP) genes (rs1799750 MMP1, rs3918242 and rs17576 MMP9) in Russian patients with primary open-angle glaucoma (POAG), essential hypertension (EH) and peptic ulcer (PU) are presented.” | 0.98 | hgnc_dict_v1 |
| phenotype | hypertension | “Dataset of allele and genotype frequencies of the three functionally significant polymorphisms of the MMP genes in Russian patients with primary open-angle glaucoma, essential hypertension and peptic ulcer.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs1799750 | “Data on the allele and genotype frequencies of the three functionally significant single nucleotide polymorphisms (SNPs) of the matrix metalloproteinases (MMP) genes (rs1799750 MMP1, rs3918242 and rs17576 MMP9) in Russian patients with primary open-angle glaucoma (POAG), essential hypertension (EH) and peptic ulcer (PU) are presented.” | 0.90 | hgvs_regex_v1 |
| variant | rs3918242 | “Data on the allele and genotype frequencies of the three functionally significant single nucleotide polymorphisms (SNPs) of the matrix metalloproteinases (MMP) genes (rs1799750 MMP1, rs3918242 and rs17576 MMP9) in Russian patients with primary open-angle glaucoma (POAG), essential hypertension (EH) and peptic ulcer (PU) are presented.” | 0.90 | hgvs_regex_v1 |
| variant | rs17576 | “Data on the allele and genotype frequencies of the three functionally significant single nucleotide polymorphisms (SNPs) of the matrix metalloproteinases (MMP) genes (rs1799750 MMP1, rs3918242 and rs17576 MMP9) in Russian patients with primary open-angle glaucoma (POAG), essential hypertension (EH) and peptic ulcer (PU) are presented.” | 0.90 | hgvs_regex_v1 |