High frequency of the DRD2/ANKK1 A1 allele in Mexican Native Amerindians and Mestizos and its association with alcohol consumption

Panduro, Arturo; Ramos-López, Omar; Campollo, Octavio; Zepeda-Carrillo, Eloy Alfonso; González-Aldaco, Karina; Torres-Valadez, Rafael; Román, Sonia

doi:10.1016/j.drugalcdep.2016.12.006

Cited by 35 publications

(28 citation statements)

References 42 publications

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“…As described before, the pattern of alcohol consumption is habitually comprised of three consecutive stages of increasing alcohol intake. [4,7] This pattern of drinking may explain why the prevalence and mortality rate of cirrhosis due to ALD in Mexico have not significantly declined, remaining as the highest in Latin America. [2,10] Furthermore, these individuals commonly do not seek medical advice until the disease has reached advanced stages of clinical complications.…”

Section: Discussionmentioning

confidence: 99%

“…[4,7] Both chronic HCV and HBV infections were diagnosed by serological, molecular and clinical assessment, as previously reported. [8,18] Diagnosis of NASH was performed in individuals who were (1) negative for HCV and HBV and consumed less than 40 g/d of alcohol; and (2) had any of the following biochemical alterations: aspartate aminotransferase (AST) ≥ 54 IU/L, alanine aminotransferase (ALT) ≥ 42 IU/L, glucose ≥ 100 mg/dL, triglycerides (TG) ≥ 150 mg/dL or homeostasis model assessment of insulin resistance (HOMA) ≥ 2.5.…”

Section: Clinical Criteriamentioning

confidence: 99%

“…[3][4][5] Particularly in Mexico, LC is the fourth largest cause of mortality, causing more than 30,000 deaths per year, a rate that is considered as one of the highest in Latin America. [6] Also, nearly six million people have alcohol abuse, [4,7] more than two million are infected with HCV, [3] and HBV infection has been reported with high prevalence in vulnerable risk groups. [8] Furthermore, 70% of the adult population in the country have excessive weight, which is a known risk factor for chronic liver damage.…”

Section: Introductionmentioning

confidence: 99%

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Early detection of liver damage in Mexican patients with chronic liver disease

Torres-Valadez

Román

José-Ábrego

et al. 2017

Journal of Translational Internal Medicine

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Background and Objective: Liver cirrhosis is usually detected at the later stages of disease. This study is aimed to detect liver damage in patients with chronic liver disease using transitional elastography (TE) and to assess the biochemical parameters associated with liver damage. Methods: In 578 patients, chronic liver disease based on etiology was diagnosed by clinical and laboratory tests. Liver damage was evaluated with TE (FibroScan®), while its association with biochemical parameters was performed using the logistic regression tests. Results: Overall, the main etiologies of liver damage were hepatitis C virus (HCV) (37%), alcoholic liver disease (ALD) (33%) and non-alcoholic steatohepatitis (NASH) (26%). Patients were 40 to 50 years of age. ALD and hepatitis B prevailed in men, whereas HCV and NASH in women. The stages of fibrosis were F0 (n = 121, 21%), F1 (n = 122, 21%), F2 (n = 58, 10%), F3 (n = 46, 8%) and F4 (n = 87, 15%). In patients with liver cirrhosis, ALD (n = 96/217, 45%), HCV (n = 94/217, 43%) and NASH (n = 21/217, 10%) were the leading etiologies. Platelets count (OR=3.31, 95%CI 1.61-6.78), glucose (OR=3.07, 95%CI 1.50-6.26), gamma-glutamyltransferase (OR=3.60, 95%CI 1.79-7.25), albumin (OR=3.89, 95%CI 1.61-9.36), and total bilirubin (OR=3.93, 95%CI 1.41-10.91) were associated to advanced stages of fibrosis (F3-F4) regardless of etiology. The concordance and positive predictive values of these parameters were higher as compared to other scores. Conclusion: Asymptomatic liver disease due to HCV, ALD and NASH prevailed in young adults. Advanced liver damage assessed by TE was associated with five biochemical parameters. In conjunction, both methodologies may be useful for the early detection of fibrosis and cirrhosis in Latin America.

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Section: Discussionmentioning

confidence: 99%

Section: Clinical Criteriamentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Early detection of liver damage in Mexican patients with chronic liver disease

Torres-Valadez

Román

José-Ábrego

et al. 2017

Journal of Translational Internal Medicine

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“…Recent studies in the Mexican population have revealed a higher prevalence of risk alleles of sweet (TAS1R2)[107], fat (CD36)[108,109] and bitter (TAS2R38)[110] taste receptors, lipid-transporting proteins (APO e2 and e4, FABP2)[111], lactose intolerance (LCT-13910 C>T)[112] and neurotransmitter transporters (DRD2 Taq1)[113]. These alleles have been associated with metabolic abnormalities, obesity and alcohol abuse disorders, aggravated by the consumption of a hepatopathogenic and obesogenic diet[114].…”

Section: Genes-emotions-gut Microbiota Interaction: Regaining Health mentioning

confidence: 99%

Genes, emotions and gut microbiota: The next frontier for the gastroenterologist

Panduro¹,

Rivera-Iñiguez²,

Sepúlveda-Villegas³

et al. 2017

WJG

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Most medical specialties including the field of gastroenterology are mainly aimed at treating diseases rather than preventing them. Genomic medicine studies the health/disease process based on the interaction of the human genes with the environment. The gastrointestinal (GI) system is an ideal model to analyze the interaction between our genes, emotions and the gut microbiota. Based on the current knowledge, this mini-review aims to provide an integrated synopsis of this interaction to achieve a better understanding of the GI disorders related to bad eating habits and stress-related disease. Since human beings are the result of an evolutionary process, many biological processes such as instincts, emotions and behavior are interconnected to guarantee survival. Nourishment is a physiological need triggered by the instinct of survival to satisfy the body’s energy demands. The brain-gut axis comprises a tightly connected neural-neuroendocrine circuitry between the hunger-satiety center, the dopaminergic reward system involved in the pleasure of eating and the gut microbiota that regulates which food we eat and emotions. However, genetic variations and the consumption of high-sugar and high-fat diets have overridden this energy/pleasure neurocircuitry to the point of addiction of several foodstuffs. Consequently, a gut dysbiosis generates inflammation and a negative emotional state may lead to chronic diseases. Balancing this altered processes to regain health may involve personalized-medicine and genome-based strategies. Thus, an integrated approach based on the understanding of the gene-emotions-gut microbiota interaction is the next frontier that awaits the gastroenterologist to prevent and treat GI disorders associated with obesity and negative emotions.

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“…Dopaminergic neurons are present in VTA of midbrain, projected into nucleus accumbens and ventral striatum [1] All the genes, involved in regulating the assembly of this system in brain is of great interest and can be a suitable candidate for investigation of molecular basis of addiction and several other psychiatric disorders [2]. Among these, the gene of interest that effect the dopaminergic neurotransmission is the Dopamine D2 receptor (DRD2) gene that is located at chromosome 11q22-23 encoding a G-Protein coupled receptor (Giinhibitory G protein) in post synaptic neurons [3] performing dual function of inhibitory auto receptor and a post synaptic receptors [4].…”

Section: Introductionmentioning

confidence: 99%

DRD2 TaqI A polymorphism in Eastern Uttar Pradesh population

Chaudhary

Yadav

Kumar

et al. 2019

Preprint

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Dopamine receptor D2 (DRD2) encoded by DRD2 gene, is located on chromosome 11q22-23. Dopamine plays the central role in motivation, cognition, and reward seeking behaviour. Its dysfunction is implicated in numerous neurological and psychiatric disorders including drug abuse, schizophrenia, ADHD etc. The TaqI A polymorphism is localized 9.8 kb downstream from DRD2 gene in exon 8 of protein kinase gene (ANKK1). It is a SNP demonstrated to cause Glutamate to Lysine substitution at 713 amino acid residue in putative binding domain of ANKK1. Due to the central role of dopamine in reward seeking behavior, DRD2 TaqI A loci is a suitable candidate for investigation of molecular basis of addiction.The aim of the present study is to evaluate the frequency of DRD2 TaqI A polymorphism in Eastern Uttar Pradesh population.3ml blood samples were collected from 50 individuals randomly selected from Eastern UP.Written informed consent along with profile detail was taken from each subject prior to blood sample collection. DRD2 TaqI A polymorphism analysis was done by PCR-RFLP method.Genomic DNA was extracted from each collected blood samples and amplified using DRD2 Taq1 region specific primers. PCR amplification produced 310bp long amplicon which was digested with Taq I enzyme for polymorphism analysis. In case of A2 allele, Taq1 enzyme cleaved 310bp long fragment into two fragments of 180bp and 130bp. In case of A1 allele, a C to T substitution demolished the restriction site of Taq1, so amplicon of A1 allele remained uncut. In total 50 sample analyzed in present study, A2/A2, A2/A1 and A1/A1 genotype were found in 12, 32 and 06 samples respectively. The genotypic frequencies of mutant homozygous (A1/A1) is 0.12, heterozygous (A2/A1) is 0.64 and normal homozygous (A2/A2) is 0.24. The allelic frequency of A1 is 0.44 and of A2 is 0.56. In conclusion, the results of present study suggests that in TaqI A polymorphism of DRD2 gene, the frequency of allele A2 is higher than that of A1 allele in population of Eastern Uttar Pradesh.

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High frequency of the DRD2/ANKK1 A1 allele in Mexican Native Amerindians and Mestizos and its association with alcohol consumption

Cited by 35 publications

References 42 publications

Early detection of liver damage in Mexican patients with chronic liver disease

Early detection of liver damage in Mexican patients with chronic liver disease

Genes, emotions and gut microbiota: The next frontier for the gastroenterologist

DRD2 TaqI A polymorphism in Eastern Uttar Pradesh population

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