Candidate genes for age at menarche are associated with endometrial hyperplasia

Ponomarenko, Irina; Reshetnikov, Evgeny; Полоников, А. В.; Сорокина, И. Н.; Yermachenko, Anna; Dvornyk, Volodymyr; Чурносов, М. И.

doi:10.1016/j.gene.2020.144933

Cited by 38 publications

(39 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The observed allele and genotype frequencies were checked for the correspondence to the Hardy-Weinberg equilibrium using the chi-square test [ 31 ]. Associations of the SNPs with GU were analyzed using the logistic regression and assuming dominant, log-additive, and recessive genetic models [ 32 ]. The regression analysis was adjusted for covariates: BMI as a quantitative variable, whereas a family history of peptic ulcer, alcohol and tobacco consumption, stress, the presence of cardiovascular and endocrine pathology were applied as qualitative parameters ( Table 1 ).…”

Section: Methodsmentioning

confidence: 99%

Association of the functionally significant polymorphisms of the MMP9 gene with H. pylori-positive gastric ulcer in the Caucasian population of Central Russia

et al. 2021

Self Cite

View full text Add to dashboard Cite

Background and purpose The study analyzed the association of functionally significant polymorphisms of matrix metalloproteinases (MMPs) genes with the development of gastric ulcer (GU) in Caucasians from Central Russia. Methods The 781 participants, including 434 patients with GU (196 Helicobacter pylori (H. pylori)-positive and 238 H. pylori-negative) and 347 controls (all H. pylori-negative) were recruited for the study. Ten SNPs of the MMP1 (rs1799750), MMP2 (rs243865), MMP3 (rs679620), MMP8 (rs1940475), and MMP9 (rs3918242, rs3918249, rs3787268, rs17576, rs17577, and rs2250889) genes were considered for association with GU using multiple logistic regression. The SNPs associated with GU and loci linked (r2≥0.8) to them were analyzed in silico for their functional assignments. Results The SNPs of the MMP9 gene were associated with H. pylori-positive GU: alleles C of rs3918249 (OR = 2.02, pperm = 0.008) and A of rs3787268 (OR = 1.60–1.82, pperm ≤ 0.016), and eight haplotypes of all studied MMP9 gene SNPs (OR = 1.85–2.04, pperm ≤ 0.016) increased risk for H. pylori-positive GU. None of the analyzed SNPs was independently associated with GU and H. pylori-negative GU. Two haplotypes of the MMP9 gene (contributed by rs3918242, rs3918249, rs17576, and rs3787268) increased risk for GU (OR = 1.62–1.65, pperm ≤ 0.006). Six loci of the MMP9 gene, which are associated with H. pylori-positive GU, and 65 SNPs linked to them manifest significant epigenetic effects, have pronounced eQTL (17 genes) and sQTL (6 genes) values. Conclusion SNPs of the MMP9 were associated with H. pylori-positive GU but not with H. pylori-negative GU in Caucasians of Central Russia.

show abstract

Section: Methodsmentioning

confidence: 99%

Association of the functionally significant polymorphisms of the MMP9 gene with H. pylori-positive gastric ulcer in the Caucasian population of Central Russia

et al. 2021

Self Cite

View full text Add to dashboard Cite

show abstract

“…Associations of the SNPs with PUD were analyzed by logistic regression according to three main genetic models, additive, recessive, and dominant 41 . The regression analysis was adjusted for covariates: family history of peptic ulcer, alcohol and tobacco consumption, stress, the presence of cardiovascular pathology were used as qualitative variables (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Functionally significant polymorphisms of the MMP-9 gene are associated with peptic ulcer disease in the Caucasian population of Central Russia

Minyaylo

Ponomarenko

Reshetnikov

et al. 2021

Preprint

Self Cite

View full text Add to dashboard Cite

This study analyzed the association of functionally significant SNPs of matrix metalloproteinase (MMP) genes in the development of peptic ulcer disease (PUD) in Caucasians from Central Russia. Ten SNPs of the MMP-1, MMP-2, MMP-3, MMP-8, and MMP-9 genes were analyzed for association with PUD in a cohort of 798 patients with PUD (including 404 H. pylori-positive and 394 H. pylori-negative) and 347 H. pylori-negative controls using logistic regression and assuming the additive, recessive, and dominant genetic models. Allele G of the rs17576 MMP9 locus conferred a higher risk for PUD (ORadj = 1.31, pperm=0.016), haplotype AACG of loci rs17576-rs3787268-rs2250889-rs17577 of the MMP9 gene decreased risk for PUD (ORadj=0.17, pperm=0.003). Also, allele C of rs3918249, allele G of rs17576 and haplotype CG of rs3918249-rs17576 of the MMP9 gene increased risk for H. pylori-positive PUD (ORadj = 1.82, pperm=0.002; ORadj = 1.53–1.95 pperm=0.001–0.013 and ORadj = 1.49 pperm=0.009 respectively). The above loci and 50 linked to them possess significant regulatory effects and may affect the alternative splicing of four genes and the expression of 17 genes in various organs and tissues related to the PUD pathogenesis.

show abstract

“…The observed allele and genotype frequencies were assessed for correspondence to the Hardy–Weinberg equilibrium using the chi-square test 42 . Associations of the SNPs with PUD were analyzed by logistic regression according to three main genetic models, additive, recessive, and dominant 43 . The regression analysis was adjusted for covariates: family history of peptic ulcer, alcohol and tobacco consumption, stress, the presence of cardiovascular pathology were used as qualitative variables (Table 1 ).…”

Section: Methodsmentioning

confidence: 99%

Functionally significant polymorphisms of the MMP-9 gene are associated with peptic ulcer disease in the Caucasian population of Central Russia

Minyaylo

Ponomarenko

Reshetnikov

et al. 2021

Sci Rep

Self Cite

View full text Add to dashboard Cite

This study analyzed the association of functionally significant SNPs of matrix metalloproteinase (MMP) genes in the development of peptic ulcer disease (PUD) in Caucasians from Central Russia. Ten SNPs of the MMP-1, MMP-2, MMP-3, MMP-8, and MMP-9 genes were analyzed for association with PUD in a cohort of 798 patients with PUD (including 404 H. pylori-positive and 394 H. pylori-negative) and 347 H. pylori-negative controls using logistic regression and assuming the additive, recessive, and dominant genetic models. The variants of MMP-1, MMP-2, MMP-3, and MMP-8 did not manifest any significant associations with the diseases. Five SNPs of the MMP-9 gene demonstrated such association. Allele G of the rs17576 MMP-9 locus conferred a higher risk for PUD (ORadj = 1.31, pperm = 0.016), haplotype AACG of loci rs17576-rs3787268-rs2250889-rs17577 of the MMP-9 gene decreased risk for PUD (ORadj = 0.17, pperm = 0.003). Also, allele C of rs3918249, allele G of rs17576 and haplotype CG of rs3918249-rs17576 of the MMP-9 gene increased risk for H. pylori-positive PUD (ORadj = 1.82, pperm = 0.002; ORadj = 1.53–1.95 pperm = 0.001–0.013 and ORadj = 1.49 pperm = 0.009 respectively). The above loci and 50 linked to them possess significant regulatory effects and may affect the alternative splicing of four genes and the expression of 17 genes in various organs and tissues related to the PUD pathogenesis.

show abstract

Candidate genes for age at menarche are associated with endometrial hyperplasia

Cited by 38 publications

References 39 publications

Association of the functionally significant polymorphisms of the MMP9 gene with H. pylori-positive gastric ulcer in the Caucasian population of Central Russia

Association of the functionally significant polymorphisms of the MMP9 gene with H. pylori-positive gastric ulcer in the Caucasian population of Central Russia

Functionally significant polymorphisms of the MMP-9 gene are associated with peptic ulcer disease in the Caucasian population of Central Russia

Functionally significant polymorphisms of the MMP-9 gene are associated with peptic ulcer disease in the Caucasian population of Central Russia

Contact Info

Product

Resources

About