OBJECTIVES: To evaluate the association between fibronectin gene (FN1) polymorphisms and calcium oxalate nephrolithiasis as a genetic risk factor. METHODS: Genomic DNA of 143 patients with calcium oxalate nephrolithiasis and 154 healthy controls were screened for polymorphisms (HaeIII b, MspI, and HindIII) of the FN1 gene, using polymerase chain reaction-restriction fragments length polymorphism method. Allele and genotype frequencies were compared between the groups. RESULTS: Although the observed differences between distribution of genotypes of AA, AB, and BB (for HaeIII b), as well as CC, CD, and DD (MspI) were not significant, FF genotype for HindIII showed significant difference when compared with both EF and EE + EF genotype (P = .00202 and P = .00203, respectively). CONCLUSIONS: The results of our study revealed that HindIII polymorphism of the FN1 gene is highly associated with calcium oxalate stone disease. This association makes FN a good candidate for further studies about the etiology of stone disease, and in the future it could be a candidate marker for evaluating the genetic risks in patients with nephrolithiasis.
OBJECTIVES: To evaluate the association between fibronectin gene (FN1) polymorphisms and calcium oxalate nephrolithiasis as a genetic risk factor. METHODS: Genomic DNA of 143 patients with calcium oxalate nephrolithiasis and 154 healthy controls were screened for polymorphisms (HaeIII b, MspI, and HindIII) of the FN1 gene, using polymerase chain reaction-restriction fragments length polymorphism method. Allele and genotype frequencies were compared between the groups. RESULTS: Although the observed differences between distribution of genotypes of AA, AB, and BB (for HaeIII b), as well as CC, CD, and DD (MspI) were not significant, FF genotype for HindIII showed significant difference when compared with both EF and EE + EF genotype (P = .00202 and P = .00203, respectively). CONCLUSIONS: The results of our study revealed that HindIII polymorphism of the FN1 gene is highly associated with calcium oxalate stone disease. This association makes FN a good candidate for further studies about the etiology of stone disease, and in the future it could be a candidate marker for evaluating the genetic risks in patients with nephrolithiasis.
Authors: Katarzyna Kosik; Anna Sowińska; Agnieszka Seremak-Mrozikiewicz; Jasmine A Abu-Amara; Salwan R Al-Saad; Lukasz M Karbowski; Katarzyna Gryczka; Grażyna Kurzawińska; Marta Szymankiewicz-Bręborowicz; Krzysztof Drews; Dawid Szpecht Journal: Mol Cell Biochem Date: 2022-03-01 Impact factor: 3.396
Authors: Dawid Szpecht; Salwan R Al-Saad; Lukasz M Karbowski; Katarzyna Kosik; Grażyna Kurzawińska; Marta Szymankiewicz; Krzysztof Drews; Agnieszka Seremak-Mrozikiewicz Journal: Childs Nerv Syst Date: 2020-04-13 Impact factor: 1.475