Variation in the ADH1B proximal promoter affects expression.

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Authors: Pochareddy, Sirisha; Edenberg, Howard J
Year: 2011
Journal: Chemico-biological interactions
PMID: 21168396
DOI: 10.1016/j.cbi.2010.12.007
PMCID: PMC3075324

#	Section	Preview
0	1. Introduction	Alcoholism is a complex disease affecting millions in the world. It is influenced by both genetic…
1	1. Introduction	Alcohol dehydrogenases metabolize alcohol to acetaldehyde in the first step of alcohol metabolism.…
2	1. Introduction	The rate of alcohol metabolism can also be affected by regulatory variations that influence the…
3	1. Introduction	Two SNPs in the ADH1B promoter region, rs1229982 and rs1159918, are associated with alcohol…
4	2. Materials and Methods — 2.1 Cloning of test fragments	The region extending to 1484 bp upstream of the start of the ADH1B coding sequence (+1 CDS) was…
5	2. Materials and Methods — 2.2 Transient transfections and Reporter gene assays	HepG2 human hepatoma cells (HB-8065; ATCC, Manassas, VA) were cultured in MEM (ATCC) with 10% FBS…
6	2. Materials and Methods — 2.2 Transient transfections and Reporter gene assays	by centrifugation and suspended in 100 μl of 1X Reporter lysis buffer (Promega, Madison, WI). Cell…
7	2. Materials and Methods — 2.2 Transient transfections and Reporter gene assays	All test constructs were transfected at least in triplicate in each individual experiment, with…
8	3. Results and Discussion	Two SNPs in the non-coding region of ADH1B have been associated with alcohol dependence [25]; both…
9	3. Results and Discussion	The effects of different alleles of rs1229982 and rs1159918, along with the other natural…
10	3. Results and Discussion	Five haplotypes were tested in HepG2 cells by transient transfections. The activity of each was…
11	3. Results and Discussion	Data from the different haplotypes were therefore grouped based on the allele of each SNP (e.g., the…
12	3. Results and Discussion	The ADH1B proximal promoter region extending to 270 bp upstream of the translational start site has…
13	3. Results and Discussion	The A allele of rs1229982 is found at a low frequency (0.2) in European Americans (CEU); it is at…
14	3. Results and Discussion	Because we did not detect a functional effect for rs1159918, its association with alcoholism could…
15	3. Results and Discussion	In summary, we have identified a functional effect of the variation rs1229982 in the ADH1B proximal…

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Title	Year	PMID
Alcohol-metabolizing genes and alcohol phenotypes in an Israeli household sample.	2013	23895337
Genes encoding enzymes involved in ethanol metabolism.	2012	23134050

Title	Authors	Journal	Year	Link
Alcohol Dehydrogenases, Aldehyde Dehydrogenases, and Alcohol Use Disorders: A Critical Review.	Edenberg HJ et al.	—	2018	→
Alcohol metabolism and oesophageal cancer: a systematic review of the evidence.	Matejcic M et al.	—	2017	→
A brief history of research on the genetics of alcohol and other drug use disorders.	Schuckit MA	—	2014	→
Alcohol-metabolizing genes and alcohol phenotypes in an Israeli household sample.	Meyers JL et al.	—	2013	→
Chronic alcohol exposure alters gene expression in HepG2 cells.	Pochareddy S et al.	—	2012	→
Genes encoding enzymes involved in ethanol metabolism.	Hurley TD et al.	—	2012	→
The impact of cis-acting polymorphisms on the human phenotype.	Jones BL et al.	—	2011	→

Variation in the ADH1B proximal promoter affects expression.

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