Pérez-Palma2019
Copy number variation (CNV) analysis in Gallstones disease (GSD)
We examined a sample of 4,778 individuals (1,929 GSD cases and 2,849 controls) including two European cohorts from Germany (n = 3,702) and one admixed Latin American cohort from Chile (n = 1,076). We detected 4,336 large and rare CNVs events (size &gt; 100 kb, frequency &lt; 1%). CNV burden analysis revealed a significant association of CNVs with GSD, with the strongest effect observed in men with CNVs overlapping lipid metabolism genes.
We examined a sample of 4,778 individuals (1,929 GSD cases and 2,849 controls) including two European cohorts from Germany (n = 3,702) and one admixed Latin American cohort from Chile (n = 1,076). We detected 4,336 large and rare CNVs events (size &gt; 100 kb, frequency &lt; 1%). CNV burden analysis revealed a significant association of CNVs with GSD, with the strongest effect observed in men with CNVs overlapping lipid metabolism genes.