Association Between Copy Number Variation Losses and Alcohol Dependence Across African American and European American Ethnic Groups

Abstract

Background-Copy number variations (CNVs) are structural genetic mutations consisting of segmental gains or losses in DNA sequence. Although CNVs contribute substantially to genomic variation, few genetic and imaging studies report association of CNVs with alcohol dependence (AD). Our purpose is to find evidence of this association across ethnic populations and genders. This work is the first AD-CNV study across ethnic groups and the first to include the African American population.

Homozygous deletions at 3p22, 5p14, 6q15, and 9p21 result in aberrant expression of tumor suppressor genes in gastric cancer

“…To identify large‐scale mutational signatures of GC cells, we analyzed a number of structural variations, including deletions, insertions, duplications, and chromosomal rearrangements, using whole‐genome sequencing of six GC cell lines (SNU‐1, SNU‐5, SNU‐16, SNU‐520, SNU‐638, and SNU‐668). We examined CNAs in GC cell line genomes by applying BIC‐seq (Xi, et al 2011; Ulloa et al, ). We used five normal Korean individuals' CNA data from the KPGP as controls (Supporting Information Table S1).…”

FTO gene variants and consumption of alcoholic beverages

“…FTO is expressed mainly in the hypothalamus and plays an important role in energy homeostasis management of body and the regulation of fat mass by influencing lipolysis and preadipocyte differentiation. However, the exact physiological function of this gene has not yet been fully understood [26][27][28][29][30][31][32][33][34] (Figure 1).…”

“…FTO ulega ekspresji głównie w podwzgórzu. Odgrywa ważną rolę w zarządzaniu energetyczną homeostazą organizmu oraz w regulacji masy tkanki tłuszczowej przez wpływ na lipolizę i różnicowanie preadipocytów, jednak dokładna funkcja fizjologiczna tego genu nie została jeszcze w pełni poznana [26][27][28][29][30][31][32][33][34] (ryc. 1).…”

Copy number variation and expression of exportin-4 associates with severity of fibrosis in metabolic associated fatty liver disease

“…Decreased XPO4 expression has been shown to associate with hepatocellular carcinoma [ 23 , 24 ]. Not surprisingly, similar to SNPs, CNVs exhibit substantial variability in both frequency and effect size across ethnicities [ 25 , 26 ]. Thus, it is crucial to investigate whether the effect of this CNV can be replicated to other populations and if so, to understand the underlying functional mechanism of action.…”