Glu504Lys Single Nucleotide Polymorphism of Aldehyde Dehydrogenase 2 Gene and the Risk of Human Diseases

Aldehyde dehydrogenase (ALDH) 2 is a mitochondrial enzyme that is known for its important role in oxidation and detoxification of ethanol metabolite acetaldehyde. ALDH2 also metabolizes other reactive aldehydes such as 4-hydroxy-2-nonenal and acrolein. The Glu504Lys single nucleotide polymorphism (SNP) ofALDH2gene, which is found in approximately 40% of the East Asian populations, causes defect in the enzyme activity of ALDH2, leading to alterations in acetaldehyde metabolism and alcohol-induced “flushing” syndrome. Evidence suggests thatALDH2Glu504Lys SNP is a potential candidate genetic risk factor for a variety of chronic diseases such as cardiovascular disease, cancer, and late-onset Alzheimer’s disease. In addition, the association betweenALDH2Glu504Lys SNP and the development of these chronic diseases appears to be affected by the interaction between the SNP and lifestyle factors such as alcohol consumption as well as by the presence of other genetic variations.

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Single nucleotide polymorphism genotyping of aldehyde dehydrogenase 2 gene using a single bacterial magnetic particle

Biosensors and Bioelectronics ◽

10.1016/s0956-5663(03)00018-6 ◽

2003 ◽

Vol 18 (5-6) ◽

pp. 661-666 ◽

Cited By ~ 22

Author(s):

Tomoko Yoshino ◽

Tsuyoshi Tanaka ◽

Haruko Takeyama ◽

Tadashi Matsunaga

Keyword(s):

Single Nucleotide Polymorphism ◽

Aldehyde Dehydrogenase ◽

Magnetic Particle ◽

Single Nucleotide Polymorphism Genotyping ◽

Nucleotide Polymorphism ◽

Aldehyde Dehydrogenase 2 ◽

Single Nucleotide ◽

Aldehyde Dehydrogenase 2 Gene

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Single Nucleotide Polymorphism Associated with Late-onset Alzheimer’s Disease

Journal of Medical Sciences(Faisalabad) ◽

10.3923/jms.2005.275.279 ◽

2005 ◽

Vol 5 (4) ◽

pp. 275-279 ◽

Cited By ~ 2

Author(s):

Abdulaziz Ali A. Al-Khedhai ◽

Misbahul Arfin . ◽

Bassam A. Alahmadi . ◽

Mohamed A. Al-Jumah .

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Single Nucleotide Polymorphism ◽

Late Onset ◽

Nucleotide Polymorphism ◽

Single Nucleotide

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Single nucleotide polymorphism rs7294919 on chromosome 12q24.22 is associated with late-onset Alzheimer's disease in Han Chinese

Neuroscience Letters ◽

10.1016/j.neulet.2013.12.022 ◽

2014 ◽

Vol 560 ◽

pp. 67-70 ◽

Cited By ~ 3

Author(s):

Ling-Li Ma ◽

Jiang-Rong Ou ◽

Wei Zhang ◽

Fu-Rong Sun ◽

Jin-Tai Yu ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Single Nucleotide Polymorphism ◽

Late Onset ◽

Han Chinese ◽

Nucleotide Polymorphism ◽

Single Nucleotide

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Polymorphism C/T-13910 of the LCT gene regulatory region and lactase deficiency in Eurasian populations

Ecological genetics ◽

10.17816/ecogen5325-34 ◽

2007 ◽

Vol 5 (3) ◽

pp. 25-34

Author(s):

Maria V Sokolova ◽

Eugene V Vasilyev ◽

Andrey I Kozlov ◽

Denis V Rebrikov ◽

Svetlana S Senkeeva ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Regulatory Region ◽

Recessive Trait ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Genetic Determination ◽

Asian Populations ◽

Genotype Frequencies ◽

European Part Of Russia ◽

Genetically Determined

Genetically determined deficiency of the lactase enzyme in adults (primary hypolactasia) is a recessive trait. As shown earlier, in some European populations primary hypolactasia is determined by carrying the CC genotype at the single-nucleotide polymorphism (SNP) LCT*С/T-13910. In this work allele and genotype frequencies were estimated for the single-nucleotide polymorphism (SNP) LCT*C/ T-13910 in 7 samples (346 individuals in total), representing Eurasian populations (Saami, Mari, Russians from the Volga-Ural Area, Kazakhs, Uyghurs, Buriats, Arabs). For part of these groups and for some of the earlier studied groups the frequencies of the CC genotype are similar to the epidemiological-clinical data on hypolactasia frequency reported for respective or closely located populations (in Russians, Ukrainians, Byelorussians, Kola Saami, Mari, Komi-Permyaks, Udmurts, Pamir Mountain dwellers, and in Chukchi, Iranians and Arabs). For the Asian populations, the data are contradictory, and evaluation of genetic determination of hypolactasia in these populations requires further studies of larger samples. Considering association of primary hypolactasia with CC genotype in the Russian sample found by us earlier, the obtained results point that the CC genotype at SNP LCT*C/ T-13910 is the main genetic determinant of primary hypolactasia for populations of the European part of Russia.

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