| Autor: |
Sima, C. S., Rascu, A. S. C., Radavoi, D. G., Badescu, D. L., Ursu, R., Iordache, P., Jinga, V. |
| Předmět: |
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| Zdroj: |
Romanian Journal of Urology; 2019, Vol. 18 Issue 4, p9-15, 7p |
| Abstrakt: |
Introduction and Objectives. Lithiasis is a name given to the pathology that brings together under its umbrella the bioumoral and local factors that lead to the appearance of urinary lithiasis. Regarding the applications of genetics in the field of nephrolithiasis, we can say that things have been set in motion a great deal after the introduction of the GWAS (genome-wide association studies). Material and methods. This study consists of 1988 hospital patients; 127 unrelated, confirmed nephrolithiasis cases, and 1861 controls, consisting of patients admitted for urological and surgical conditions other than nephrolithiasis. DNA was extracted from whole blood at deCODE Genetics (Reykjavik, Iceland) and genotyped using Infinium Omni- Express-24 bead chips. An association test was performed between the 8.5 million markers and a phenotype represented by the confirmed nephrolithiasis diagnostic. Results. To search for new susceptibility loci associated with nephrolithiasis, we tested a total of 8.5 million genetic variants in a Romanian cohort. No variants tested in the Romanian GWAS reached genome-wide significance (P-value lower than 5 × 10-8), while 14 markers showed association P-values <1 × 10-6. Conclusions. Despite the lack of replication, we strongly consider our results an important stepping-stone for the future development of genetic screening of renal lithiasis in the Romanian population. [ABSTRACT FROM AUTHOR] |
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