期刊论文详细信息
BMC Medical Genetics
Protective variant associated with alcohol dependence in a Mexican American cohort
Cindy L Ehlers4  Nicholas J Schork2  Kirk C Wilhelmsen3  Ian R Gizer1  Trina M Norden-Krichmar4 
[1] Department of Psychological Sciences, University of Missouri, Columbia 65211, MO, USA;Department of Human Biology, J. Craig Venter Institute, La Jolla 92037, CA, USA;Department of Genetics and Neurology, University of North Carolina, Chapel Hill 27599, NC, USA;Department of Molecular and Cellular Neuroscience, The Scripps Research Institute, La Jolla 92037, CA, USA
关键词: Mexican Americans;    ADH;    Alcohol dehydrogenase;    Alcohol dependence;   
Others  :  1090000
DOI  :  10.1186/s12881-014-0136-z
 received in 2014-07-18, accepted in 2014-12-08,  发布年份 2014
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【 摘 要 】

Background

Mexican Americans, particularly those born in the United States, are at greater risk for alcohol associated morbidity and mortality. The present study sought to investigate whether specific genetic variants may be associated with alcohol use disorder phenotypes in a select population of Mexican American young adults.

Methods

The study evaluated a cohort of 427 (age 18 – 30 years) Mexican American men (n = 171) and women (n = 256). Information on alcohol dependence was obtained through interview using the Semi-Structured Assessment for the Genetics of Alcoholism (SSAGA). For all subjects, DNA was extracted from blood samples, followed by genotyping using an Affymetrix Axiom Exome1A chip.

Results

A protective variant (rs991316) located downstream from the ADH7 (alcohol dehydrogenase 7) gene showed suggestive significance in association with alcohol dependence symptom counts derived from DSM-III-R and DSM-IV criteria, as well as to clustered alcohol dependence symptoms. Additional linkage analysis suggested that nearby variants in linkage disequilibrium with rs991316 were not responsible for the observed association with the alcohol dependence phenotypes in this study.

Conclusions

ADH7 has been shown to have a protective role against alcohol dependence in previous studies involving other ethnicities, but has not been reported for Mexican Americans. These results suggest that variants near ADH7 may play a role in protection from alcohol dependence in this Mexican American cohort.

【 授权许可】

   
2014 Norden-Krichmar et al.; licensee BioMed Central.

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【 参考文献 】
  • [1]Caetano R, Clark CL: Trends in alcohol consumption patterns among whites, blacks and Hispanics: 1984 and 1995. J Stud Alcohol 1998, 59(6):659-668.
  • [2]Caetano R, Clark CL: Trends in alcohol-related problems among whites, blacks, and Hispanics: 1984–1995. Alcohol Clin Exp Res 1998, 22(2):534-538.
  • [3]Lee DJ, Markides KS, Ray LA: Epidemiology of self-reported past heavy drinking in Hispanic adults. Ethn Health 1997, 2(1–2):77-88.
  • [4]Burnam MA: Prevalence of alcohol abuse and dependence among Mexican Americans and non-Hispanic Whites in the community. In NIAAA Research Monograph No 18, DHHS Publication No (ADM) 89–1435; Alcohol Use Among US Ethic Minorities: Proceedings on a Conference on the Epidemiology of Alcohol Use and Abuse among Ethnic Minority Groups. Edited by Speiger D, Tate D, Aitken S, Christian CM. U.S. Government Printing Office: USDHHS, SAMSHA, NIAAA, Rockville, MD, USA; 1989:163-177.
  • [5]Vega WA, Kolody B, Aguilar-Gaxiola S, Alderete E, Catalano R, Caraveo-Anduaga J: Lifetime prevalence of DSM-III-R psychiatric disorders among urban and rural Mexican Americans in California. Arch Gen Psychiatry 1998, 55(9):771-778.
  • [6]Caetano R, Ramisetty-Mikler S, Rodriguez LA: The Hispanic Americans Baseline Alcohol Survey (HABLAS): rates and predictors of DUI across Hispanic national groups. Accid Anal Prev 2008, 40(2):733-741.
  • [7]Caetano R, Ramisetty-Mikler S, Rodriguez LA: The Hispanic Americans Baseline Alcohol Survey (HABLAS): rates and predictors of alcohol abuse and dependence across Hispanic national groups. J Stud Alcohol Drugs 2008, 69(3):441-448.
  • [8]Caetano R, Vaeth PA, Ramisetty-Mikler S, Rodriguez LA: The Hispanic Americans baseline alcohol survey: alcoholic beverage preference across Hispanic national groups. Alcohol Clin Exp Res 2009, 33(1):150-159.
  • [9]Wall TL, Schoedel K, Ring HZ, Luczak SE, Katsuyoshi DM, Tyndale RF: Differences in pharmacogenetics of nicotine and alcohol metabolism: review and recommendations for future research. Nicotine Tob Res 2007, 9(Suppl 3):S459-S474.
  • [10]Edenberg HJ, Foroud T: Genetics and alcoholism. Nat Rev Gastroenterol Hepatol 2013, 10(8):487-494.
  • [11]Han Y, Gu S, Oota H, Osier MV, Pakstis AJ, Speed WC, Kidd JR, Kidd KK: Evidence of positive selection on a class I ADH locus. Am J Hum Genet 2007, 80(3):441-456.
  • [12]Edenberg HJ, Xuei X, Chen HJ, Tian H, Wetherill LF, Dick DM, Almasy L, Bierut L, Bucholz KK, Goate A, Hesselbrock V, Kuperman S, Nurnberger J, Porjesz B, Rice J, Schuckit M, Tischfield J, Begleiter H, Foroud T: Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis. Hum Mol Genet 2006, 15(9):1539-1549.
  • [13]Ehlers CL, Montane-Jaime K, Moore S, Shafe S, Joseph R, Carr LG: Association of the ADHIB*3 allele with alcohol-related phenotypes in Trinidad. Alcohol Clin Exp Res 2007, 31(2):216-220.
  • [14]Wan YJ, Poland RE, Lin KM: Genetic polymorphism of CYP2E1, ADH2, and ALDH2 in Mexican-Americans. Genet Test 1998, 2(1):79-83.
  • [15]Konishi T, Calvillo M, Leng AS, Feng J, Lee T, Lee H, Smith JL, Sial SH, Berman N, French S, Eysselein V, Lin KM, Wan YJ: The ADH3*2 and CYP2E1 c2 alleles increase the risk of alcoholism in Mexican American men. Exp Mol Pathol 2003, 74(2):183-189.
  • [16]Konishi T, Calvillo M, Leng AS, Lin KM, Wan YJ: Polymorphisms of the dopamine D2 receptor, serotonin transporter, and GABA(A) receptor beta(3) subunit genes and alcoholism in Mexican-Americans. Alcohol 2004, 32(1):45-52.
  • [17]Konishi T, Luo HR, Calvillo M, Mayo MS, Lin KM, Wan YJ: ADH1B*1, ADH1C*2, DRD2 (−141C Ins), and 5-HTTLPR are associated with alcoholism in Mexican American men living in Los Angeles. Alcohol Clin Exp Res 2004, 28(8):1145-1152.
  • [18]Ehlers CL, Liang T, Gizer IR: ADH and ALDH polymorphisms and alcohol dependence in Mexican and Native Americans. Am J Drug Alcohol Abuse 2012, 38(5):389-394.
  • [19]Bucholz KK, Cadoret R, Cloninger CR, Dinwiddie SH, Hesselbrock VM, Nurnberger JI Jr, Reich T, Schmidt I, Schuckit MA: A new, semi-structured psychiatric interview for use in genetic linkage studies: a report on the reliability of the SSAGA. J Stud Alcohol 1994, 55(2):149-158.
  • [20]Hesselbrock M, Easton C, Bucholz KK, Schuckit M, Hesselbrock V: A validity study of the SSAGA–a comparison with the SCAN. Addiction 1999, 94(9):1361-1370.
  • [21]Affymetrix: Affymetrix: Best Practice Supplement to Axiom Genotyping Solution Data Analysis User Guide Rev. 1. Affymetrix, Inc, Santa Clara, CA, USA; 2011.
  • [22]Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007, 81(3):559-575.
  • [23]Robinson JT, Thorvaldsdottir H, Winckler W, Guttman M, Lander ES, Getz G, Mesirov JP: Integrative genomics viewer. Nat Biotechnol 2011, 29(1):24-26.
  • [24]Thorvaldsdottir H, Robinson JT, Mesirov JP: Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform 2013, 14(2):178-192.
  • [25]Li MX, Yeung JM, Cherny SS, Sham PC: Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets. Hum Genet 2012, 131(5):747-756.
  • [26]Barrett JC, Fry B, Maller J, Daly MJ: Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21(2):263-265.
  • [27]Bansal V, Libiger O, Torkamani A, Schork NJ: Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet 2010, 11(11):773-785.
  • [28]Bansal V, Libiger O, Torkamani A, Schork NJ: An application and empirical comparison of statistical analysis methods for associating rare variants to a complex phenotype. Pac Symp Biocomput 2011:76–87. doi:10.1142/9789814335058_0009. PMID: 21121035
  • [29]Madsen BE, Browning SR: A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet 2009, 5(2):e1000384.
  • [30]Li B, Leal SM: Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 2008, 83(3):311-321.
  • [31]Bhatia G, Bansal V, Harismendy O, Schork NJ, Topol EJ, Frazer K, Bafna V: A covering method for detecting genetic associations between rare variants and common phenotypes. PLoS Comput Biol 2010, 6(10):e1000954.
  • [32]Feng S, Wang S, Chen CC, Lan L: GWAPower: a statistical power calculation software for genome-wide association studies with quantitative traits. BMC Genet 2011, 12:12. BioMed Central Full Text
  • [33]Caetano R, Baruah J, Chartier KG: Ten-year trends (1992 to 2002) in sociodemographic predictors and indicators of alcohol abuse and dependence among whites, blacks, and Hispanics in the United States. Alcohol Clin Exp Res 2011, 35(8):1458-1466.
  • [34]Hasin DS, Stinson FS, Ogburn E, Grant BF: Prevalence, correlates, disability, and comorbidity of DSM-IV alcohol abuse and dependence in the United States: results from the National Epidemiologic Survey on Alcohol and Related Conditions. Arch Gen Psychiatry 2007, 64(7):830-842.
  • [35]Caetano R, Vaeth PA, Mills BA, Rodriguez LA: Alcohol abuse and dependence among U.S.-Mexico border and non-border Mexican Americans. Alcohol Clin Exp Res 2013, 37(5):847-853.
  • [36]Caetano R, Ramisetty-Mikler S, Rodriguez LA: The Hispanic Americans Baseline Alcohol Survey (HABLAS): the association between birthplace, acculturation and alcohol abuse and dependence across Hispanic national groups. Drug Alcohol Depend 2009, 99(1–3):215-221.
  • [37]Ehlers CL, Gilder DA, Criado JR, Caetano R: Acculturation stress, anxiety disorders, and alcohol dependence in a select population of young adult Mexican Americans. J Addict Med 2009, 3(4):227-233.
  • [38]Birley AJ, James MR, Dickson PA, Montgomery GW, Heath AC, Whitfield JB, Martin NG: Association of the gastric alcohol dehydrogenase gene ADH7 with variation in alcohol metabolism. Hum Mol Genet 2008, 17(2):179-189.
  • [39]Osier MV, Lu RB, Pakstis AJ, Kidd JR, Huang SY, Kidd KK: Possible epistatic role of ADH7 in the protection against alcoholism. Am J Med Genet B Neuropsychiatr Genet 2004, 126B(1):19-22.
  • [40]Gizer IR, Edenberg HJ, Gilder DA, Wilhelmsen KC, Ehlers CL: Association of alcohol dehydrogenase genes with alcohol-related phenotypes in a Native American community sample. Alcohol Clin Exp Res 2011, 35(11):2008-2018.
  • [41]Kuo PH, Kalsi G, Prescott CA, Hodgkinson CA, Goldman D, van den Oord EJ, Alexander J, Jiang C, Sullivan PF, Patterson DG, Walsh D, Kendler KS, Riley BP: Association of ADH and ALDH genes with alcohol dependence in the Irish Affected Sib Pair Study of alcohol dependence (IASPSAD) sample. Alcohol Clin Exp Res 2008, 32(5):785-795.
  • [42]Adeyemo A, Gerry N, Chen G, Herbert A, Doumatey A, Huang H, Zhou J, Lashley K, Chen Y, Christman M, Rotimi C: A genome-wide association study of hypertension and blood pressure in African Americans. PLoS Genet 2009, 5(7):e1000564.
  • [43]Peng Q, Gizer IR, Libiger O, Bizon C, Wilhelmsen KC, Schork NJ, Ehlers CL: Association and ancestry analysis of sequence variants in ADH and ALDH using alcohol-related phenotypes in a Native American community sample. Am J Med Genet B Neuropsychiatr Genet 2014, 165(8):673-683.
  • [44]Mulligan CJ, Robin RW, Osier MV, Sambuughin N, Goldfarb LG, Kittles RA, Hesselbrock D, Goldman D, Long JC: Allelic variation at alcohol metabolism genes (ADH1B, ADH1C, ALDH2) and alcohol dependence in an American Indian population. Hum Genet 2003, 113(4):325-336.
  • [45]Han Y, Oota H, Osier MV, Pakstis AJ, Speed WC, Odunsi A, Okonofua F, Kajuna SL, Karoma NJ, Kungulilo S, Grigorenko E, Zhukova OV, Bonne-Tamir B, Lu RB, Parnas J, Schulz LO, Kidd JR, Kidd KK: Considerable haplotype diversity within the 23 kb encompassing the ADH7 gene. Alcohol Clin Exp Res 2005, 29(12):2091-2100.
  • [46]Martinez C, Galvan S, Garcia-Martin E, Ramos MI, Gutierrez-Martin Y, Agundez JA: Variability in ethanol biodisposition in whites is modulated by polymorphisms in the ADH1B and ADH1C genes. Hepatology 2010, 51(2):491-500.
  • [47]Zuo L, Zhang H, Malison RT, Li CS, Zhang XY, Wang F, Lu L, Lu L, Wang X, Krystal JH, Zhang F, Deng HW, Luo X: Rare ADH variant constellations are specific for alcohol dependence. Alcohol Alcohol 2013, 48(1):9-14.
  • [48]Gelernter J, Kranzler HR, Sherva R, Almasy L, Koesterer R, Smith AH, Anton R, Preuss UW, Ridinger M, Rujescu D, Wodarz N, Zill P, Zhao H, Farrer LA: Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci. Mol Psychiatry 2014, 19(1):41-49.
  • [49]Li D, Zhao H, Gelernter J: Further clarification of the contribution of the ADH1C gene to vulnerability of alcoholism and selected liver diseases. Hum Genet 2012, 131(8):1361-1374.
  • [50]Meyers JL, Shmulewitz D, Aharonovich E, Waxman R, Frisch A, Weizman A, Spivak B, Edenberg HJ, Gelernter J, Hasin DS: Alcohol-metabolizing genes and alcohol phenotypes in an Israeli household sample. Alcohol Clin Exp Res 2013, 37(11):1872-1881.
  • [51]Celorrio D, Bujanda L, Chbel F, Sanchez D, Martinez-Jarreta B, de Pancorbo MM: Alcohol-metabolizing enzyme gene polymorphisms in the Basque Country, Morocco, and Ecuador. Alcohol Clin Exp Res 2011, 35(5):879-884.
  • [52]Montane-Jaime K, Moore S, Shafe S, Joseph R, Crooks H, Carr L, Ehlers CL: ADH1C*2 allele is associated with alcohol dependence and elevated liver enzymes in Trinidad and Tobago. Alcohol 2006, 39(2):81-86.
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