Genome-wide association studies identify locus on 6p21 influencing lung function in the Korean population

Respirology

Volumn 19, Issue 3, 2014, Pages 360-368

  Kim, Woo Jin ^a   Lee, Mi Kyeong ^c   Shin, Chol ^d   Cho, Nam Han ^e   Lee, Sang Do ^f   Oh, Yeon Mok ^f   Sung, Joohon ^b,c  

^a Kangwon National University   (South Korea)

^b Department of Environmental Health   (South Korea)

^c Seoul National University   (South Korea)

^d University of Ulsan College of Medicine   (South Korea)

^e Korea University College of Medicine   (South Korea)

^f Ajou University School of Medicine   (South Korea)

Author keywords

genetics; genome wide association study; lung function; single nucleotide polymorphism

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHROMOSOME 6P; COHORT ANALYSIS; FEMALE; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; GENE; GENE FREQUENCY; GENE LOCUS; GENE REPLICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; LONGITUDINAL STUDY; LUNG FUNCTION; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; PRIORITY JOURNAL; PROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH KOREA; VERY ELDERLY; YOUNG ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOME 6; CHRONIC OBSTRUCTIVE LUNG DISEASE; GENETIC PREDISPOSITION; GENETICS; GENOTYPING TECHNIQUE; LUNG; PATHOPHYSIOLOGY; RISK FACTOR; TWINS; VITAL CAPACITY;

PALMITOYL-PROTEIN THIOESTERASE; THIOL ESTER HYDROLASE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOMES, HUMAN, PAIR 6; FEMALE; FORCED EXPIRATORY VOLUME; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPING TECHNIQUES; HUMANS; LUNG; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; REPUBLIC OF KOREA; RISK FACTORS; THIOLESTER HYDROLASES; VITAL CAPACITY;

EID: 84896320107     PISSN: 13237799     EISSN: 14401843     Source Type: Journal    
DOI: 10.1111/resp.12230     Document Type: Article

References (33)

1. Rabe KF, Hurd S, Anzueto A, Barnes PJ, Buist SA, Calverley P, Fukuchi Y, Jenkins C, Rodriguez-Roisin R, van Weel C, et al. Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 2007; 176: 532-555.
2. Young RP, Hopkins R, Eaton TE,. Forced expiratory volume in one second: not just a lung function test but a marker of premature death from all causes. Eur. Respir. J. 2007; 30: 616-622.
3. Chen Y,. Genetic epidemiology of pulmonary function. Thorax 1999; 54: 818-824.
4. Ingebrigtsen T, Thomsen S, Sluis S, Miller M, Christensen K, Sigsgaard T, Backer V,. Genetic influences on pulmonary function: a large sample twin study. Lung 2011; 189: 323-330.
5. Hukkinen M, Kaprio J, Broms U, Viljanen A, Kotz D, Rantanen T, Korhonen T,. Heritability of lung function: a twin study among never-smoking elderly women. Twin Res. Hum. Genet. 2011; 14: 401-407.
6. Wilk JB, Chen TH, Gottlieb DJ, Walter RE, Nagle MW, Brandler BJ, Myers RH, Borecki IB, Silverman EK, Weiss ST, et al. A genome-wide association study of pulmonary function measures in the Framingham Heart Study. PLoS Genet. 2009; 5: e1000429.
7. Repapi E, Sayers I, Wain LV, Burton PR, Johnson T, Obeidat M, Zhao JH, Ramasamy A, Zhai G, Vitart V, et al. Genome-wide association study identifies five loci associated with lung function. Nat. Genet. 2010; 42: 36-44.
8. Hancock DB, Eijgelsheim M, Wilk JB, Gharib SA, Loehr LR, Marciante KD, Franceschini N, van Durme YM, Chen TH, Barr RG, et al. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. Nat. Genet. 2010; 42: 45-52.
9. Artigas MS, Loth DW, Wain LV, Gharib SA, Obeidat ME, Tang W, Zhai G, Zhao JH, Smith AV, Huffman JE, et al. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nat. Genet. 2011; 43: 1082-1090.
10. Hancock DB, Artigas MS, Gharib SA, Henry A, Manichaikul A, Ramasamy A, Loth DW, Imboden M, Koch B, McArdle WL, et al. Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. PLoS Genet. 2012; 8: e1003098.
11. Ong BA, Li J, McDonough JM, Wei Z, Kim C, Chiavacci R, Mentch F, Caboot JB, Spergel J, Allen JL, et al. Gene network analysis in a pediatric cohort identifies novel lung function genes. PLoS ONE 2013; 8: e72899.
12. Cho YS, Go MJ, Kim YJ, Heo JY, Oh JH, Ban H-J, Yoon D, Lee MH, Kim D-J, Park M, et al. A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat. Genet. 2009; 41: 527-534.
13. Sung J, Cho SI, Lee K, Ha M, Choi EY, Choi JS, Kim H, Kim J, Hong KS, Kim Y, et al. Healthy twin: a twin-family study of Korea-protocols and current status. Twin Res. Hum. Genet. 2006; 9: 844-848.
14. Gombojav B, Song YM, Lee K, Yang S, Kho M, Hwang YC, Ko G, Sung J,. The healthy twin study, Korea updates: resources for omics and genome epidemiology studies. Twin Res. Hum. Genet. 2013; 16: 241-245.
15. Wigginton JE, Abecasis GR,. PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 2005; 21: 3445-3447.
16. Abecasis GR, Cherny SS, Cookson WO, Cardon LR,. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 2002; 30: 97-101.
17. Browning BL, Browning SR,. A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am. J. Hum. Genet. 2009; 84: 210-223.
18. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D, Maller J, Sklar P, de Bakker PIW, Daly MJ, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 2007; 81: 559-575.
19. Chen W-M, Abecasis GR,. Family-based association tests for genomewide association scans. Am. J. Hum. Genet. 2007; 81: 913-926.
20. Ge D, Zhang K, Need AC, Martin O, Fellay J, Urban TJ, Telenti A, Goldstein DB,. WGAViewer: software for genomic annotation of whole genome association studies. Genome Res. 2008; 18: 640-643.
21. Pruim RJ, Welch RP, Sanna S, Teslovich TM, Chines PS, Gliedt TP, Boehnke M, Abecasis GR, Willer CJ,. LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 2010; 26: 2336-2337.
22. Castaldi PJ, Cho MH, Litonjua AA, Bakke P, Gulsvik A, Lomas DA, Anderson W, Beaty TH, Hokanson JE, Crapo JD, et al. The association of genome-wide significant spirometric loci with COPD susceptibility. Am. J. Respir. Cell Mol. Biol. 2011; 45: 1147-1153.
23. Sorci G, Riuzzi F, Giambanco I, Donato R,. RAGE in tissue homeostasis, repair and regeneration. Biochim. Biophys. Acta Mol. Cell. Res. 2013; 1833: 101-109.
24. Robinson AB, Stogsdill JA, Lewis JB, Wood TT, Reynolds PR,. RAGE and tobacco smoke: insights into modeling chronic obstructive pulmonary disease. Front. Physiol. 2012; 3: 1-11.
25. Fineschi S, De Cunto G, Facchinetti F, Civelli M, Imbimbo BP, Carnini C, Villetti G, Lunghi B, Stochino S, Gibbons DL, et al. RAGE contributes to postnatal pulmonary development and adult lung maintenance program in mice. Am. J. Respir. Cell Mol. Biol. 2013; 48: 164-171.
26. B Beucher J, Boëlle P-Y, Busson P-F, Muselet-Charlier C, Clement A, Corvol H, French CFMGSI. AGER -429T/C is associated with an increased lung disease severity in cystic fibrosis. PLoS ONE 2012; 7: e41913.
27. Gaens KHJ, Ferreira I, van der Kallen CJH, van Greevenbroek MMJ, Blaak EE, Feskens EJM, Dekker JM, Nijpels G, Heine RJ, 't Hart LM, et al. Association of polymorphism in the receptor for advanced glycation end products (RAGE) gene with circulating RAGE levels. Clin. Endocrin. Metabol. 2009; 94: 5174-5180.
28. Hirota T, Takahashi A, Kubo M, Tsunoda T, Tomita K, Doi S, Fujita K, Miyatake A, Enomoto T, Miyagawa T, et al. Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population. Nat. Genet. 2011; 43: 893-896.
29. Li X, Howard TD, Moore WC, Ampleford EJ, Li H, Busse WW, Calhoun WJ, Castro M, Chung KF, Erzurum SC, et al. Importance of hedgehog interacting protein and other lung function genes in asthma. J. Allergy Clin. Immunol. 2011; 127: 1457-1465.
30. Cho MH, Boutaoui N, Klanderman BJ, Sylvia JS, Ziniti JP, Hersh CP, DeMeo DL, Hunninghake GM, Litonjua AA, Sparrow D, et al. Variants in FAM13A are associated with chronic obstructive pulmonary disease. Nat. Genet. 2010; 42: 200-202.
31. Jiang S, Fang W, Hou Y, Huang S, Yen B, Chang J, Li S, Liu H, Liu Y, Huang C,. Upregulation of SOX9 in lung adenocarcinoma and its involvement in the regulation of cell growth and tumorigenicity. Clin. Cancer Res. 2010; 16: 4363-4373.
32. Hersh CP, Silverman EK, Gascon J, Bhattacharya S, Klanderman BJ, Litonjua AA, Lefebvre V, Sparrow D, Reilly JJ, Anderson WH, et al. SOX5 is a candidate gene for chronic obstructive pulmonary disease susceptibility and is necessary for lung development. Am. J. Respir. Crit. Care Med. 2011; 183: 1482-1489.
33. Marchini J, Howie B,. Genotype imputation for genome-wide association studies. Nat. Rev. Genet. 2010; 11: 499-511.