pubmed > ESR1 > rs9340799 > rs9340799 gene
Association of ESR1 (rs2234693 and rs9340799), CETP (rs708272), MTHFR (rs1801133 and rs2274976) and MS (rs185087) polymorphisms with Coronary Artery Disease (CAD).
Coronary artery disease (CAD) is a complex disease resulting from the cumulative and interactive effects of large number of genes along with environmental exposure. Therefore, the present study was envisaged as an effort to study the association of candidate genes ESR1 (rs2234693 and rs9340799), CETP (rs708272), MTHFR (rs1801133 and rs2274976) and MS (rs185087) polymorphisms with the risk of CAD, targeting the populations of Jammu (JandK).
A total of 400 confirmed CAD patients and 400 healthy controls were enrolled for the present study. Genotyping was done by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP).
ESR1 gene (rs9340799) polymorphism was found to be associated with CAD in all the genetic models. The haplotype analysis of ESR1 (rs2234693 and rs9340799) gene revealed that C-G haplotype was conferring approximately 5-fold risk and T-A haplotype was adding 1.4-fold risk towards the disease. 'T' allele of MTHFR rs1801133 SNP was observed to be responsible for development of CAD in our study population (p < 0.0001). In case of MTHFR (rs1801133 and rs2274976) gene, the haplotype T-G was observed to confer 4.7-fold risk towards CAD whereas haplotype C-G provided nearly a 1.7 fold protection towards development of CAD. For MS gene, rs185087 was also found to be associated with CAD in a co-dominant (p = 0.003 and p = 0.03), dominant (p = 0.001) and allelic models (p = 0.001). The gene-gene interaction revealed strong epistasis between single nucleotide polymorphisms (SNPs), ESR1 rs9340799 and MTHFR rs2274976. Furthermore, the dendrogram for gene-environment dataset indicated moderately synergistic interaction between CETP rs708272 and physical inactivity.
In the study under reference, a significant association of ESR1-XbaI (rs9340799), MTHFR C677T (rs1801133) and MS A2756G (rs185087) gene polymorphisms with the susceptibility of CAD in the population of Jammu region (JandK) has been observed.
Publication Date: 2020-07-20
Journal: BMC cardiovascular disorders
Association between rankl [RS9594759] and IL10 [RS1800896] Genes polymorphism and deciduous tooth eruption terms in Ukrainians born macrosomic.
The aim: The article deals with analyzing the influence of polymorphic variants of CYP19A1 [rs2414096, rs936306], ESR1 [rs2234693, rs9340799], IL1 [rs1143627], IL6 [rs1800796], IL10 [rs1800896] and RANKL [rs959389] genes on deciduous tooth eruption terms in individuals born macrosomic.
Materials and methods: 171 individuals participated in the multi-stage study (144 macosomic-at-birth individuals and 27 normosomic-at-birth persons). This study included only persons who have preserved information about the timing of deciduous tooth eruption - 159 persons (aged from 4 to 55 years), male and female (male / female ratio was 1.5 / 1).
Results and conclusions: The presence of the G allele in CYP19A1 [rs2414096] gene and the -351 A allele in ESR1 [rs9340799] gene were found to be risk factors for fetal macrosomia formation. The research revealed an association of RANKL [rs9594759] gene variants which is a multiplicative model of inheritance and IL-10 [rs1800896], an overdominant model of inheritance, with an increased risk of tooth delay. Besides the variants of RANKL [rs9594759] and IL-10 [rs1800896] genes a multidirectional modifying effect on the timing of tooth eruption in macrosomic-at-birth individuals made the variant of CYP19A1 [rs2414096] gene - a significant dominant and over-dominant model of inheritance. Further analysis of intergenic interactions will facilitate the application of the obtained results in clinical practice by creating a molecular profile of individuals with deviations in the tooth eruption timing.
Publication Date: 2020-04-06
Journal: Wiadomosci lekarskie (Warsaw, Poland : 1960)