Background The presence of genetic variants in the uric acid (UA) transporters can be associated with hyperuricemia, and therefore with an increased risk of monosodium urate (MSU) crystal precipitation. The inflammatory process triggered by these crystals lead to cartilage damage which, in turn, could promote knee osteoarthritis (KOA). Objective To determine whether genetic polymorphisms of the UA transporters and its interactions are associated with KOA. Materials and Methods Two hundred forty-three unrelated Mexican-mestizo individuals were recruited for this case control-study. Ninety-three of them were KOA patients but without gout, and one hundred and fifty healthy individuals with no symptoms or signs of KOA were recruited as controls. Forty-one single nucleotide polymorphisms (SNPs) involved in the UA transporters were genotyped with OpenArray technology in a QuantStudio 12K flex-System both cases and controls. Results After adjusting by age, gender, BMI and ancestry, significant associations were found for 8 SNPs: rs1260326 (GCKR), rs780093 (GCKR), rs17050272 (INHBB), rs1471633 (PDZK1), rs12129861 (PDZK1), rs7193778 (IGF1R), rs17786744 (STC1) and rs1106766 (R3HDM2). With respect to gene-gene interactions, the pairwise interactions of rs112129861 (PDZK1) and rs7193778 (IGF1R); rs17050272 (INHBB) and rs1106766 (R3HDM2); rs1106766 (R3HDM2) and rs780093 (GCKR); rs1260326 (GCKR) and rs17786744 (STC1); and rs17786744 (STC1) and rs1106766 (R3HDM2), make it possible to visualize the synergistic or antagonistic effect of their genotypes or alleles on KOA development. Conclusions Our preliminary results show that the common gene variants related with the UA transport are associated with KOA in the Mexican population. Further studies must be done to corroborate it.
Common gene variants interactions related to uric acid transport are associated with knee osteoarthritis susceptibility
Oliviero, Francesca;
2019
Abstract
Background The presence of genetic variants in the uric acid (UA) transporters can be associated with hyperuricemia, and therefore with an increased risk of monosodium urate (MSU) crystal precipitation. The inflammatory process triggered by these crystals lead to cartilage damage which, in turn, could promote knee osteoarthritis (KOA). Objective To determine whether genetic polymorphisms of the UA transporters and its interactions are associated with KOA. Materials and Methods Two hundred forty-three unrelated Mexican-mestizo individuals were recruited for this case control-study. Ninety-three of them were KOA patients but without gout, and one hundred and fifty healthy individuals with no symptoms or signs of KOA were recruited as controls. Forty-one single nucleotide polymorphisms (SNPs) involved in the UA transporters were genotyped with OpenArray technology in a QuantStudio 12K flex-System both cases and controls. Results After adjusting by age, gender, BMI and ancestry, significant associations were found for 8 SNPs: rs1260326 (GCKR), rs780093 (GCKR), rs17050272 (INHBB), rs1471633 (PDZK1), rs12129861 (PDZK1), rs7193778 (IGF1R), rs17786744 (STC1) and rs1106766 (R3HDM2). With respect to gene-gene interactions, the pairwise interactions of rs112129861 (PDZK1) and rs7193778 (IGF1R); rs17050272 (INHBB) and rs1106766 (R3HDM2); rs1106766 (R3HDM2) and rs780093 (GCKR); rs1260326 (GCKR) and rs17786744 (STC1); and rs17786744 (STC1) and rs1106766 (R3HDM2), make it possible to visualize the synergistic or antagonistic effect of their genotypes or alleles on KOA development. Conclusions Our preliminary results show that the common gene variants related with the UA transport are associated with KOA in the Mexican population. Further studies must be done to corroborate it.
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