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Original Article

A population-wide applicable HLA-DQ2 and DQ8 genotyping using DNA from dried blood spots and duplex allele-specific qPCR amplification

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Pages 581-587 | Received 19 Jan 2016, Accepted 27 Aug 2016, Published online: 27 Sep 2016

References

  • Patterson CC, Gyürüs E, Rosenbauer J, Cinek O, Neu A, Schober E, Parslow RC, Joner G, Svensson J, Castell C, Bingley PJ, Schoenle E, Jarosz-Chobot P, Urbonaité B, Rothe U, Krzisnik C, Ionescu-Tirgoviste C, Weets I, Kocova M, Stipancic G, Samardzic M, de Beaufort CE, Green A, Dahlquist GG, Soltész G. Trends in childhood type 1 diabetes incidence in Europe during 1989-2008: evidence of non-uniformity over time in rates of increase. Diabetol 2012;55:2142–7.
  • Ludvigsson JF, Rubio-Tapia A, van Dyke CT, Melton LJ, 3rd, Zinsmeister AR, Lahr BD, Murray JA. Increasing incidence of celiac disease in a North American population. Am J Gastroenterol 2013;108:818–24.
  • Spaans EA, Gusdorf LM, Groenier KH, Brand PL, Veeze HJ, Reeser HM, Bilo HJ, Kleefstra N. The incidence of type 1 diabetes is still increasing in the Netherlands, but has stabilised in children under five (Young DUDEs-1). Acta Paediatr 2015;104:626–9.
  • Kang JY, Kang AH, Green A, Gwee KA, Ho KY. Systematic review: worldwide variation in the frequency of coeliac disease and changes over time. Aliment Pharmacol Ther 2013;38:226–45.
  • Dabelea D, Mayer-Davis EJ, Saydah S, Imperatore G, Linder B, Divers J, Bell R, Badaru A, Talton JW, Crume T, Liese AD, Merchant AT, Lawrence JM, Reynolds K, Dolan L, Liu LL, Hamman RF, SEARCH for Diabetes in Youth Study. Prevalence of type 1 and type 2 diabetes among children and adolescents from 2001 to 2009. JAMA 2014;311:1778–86.
  • Mahadev S, Gardner R, Lewis SK, Lebwohl B, Green PH. Quality of life in screen-detected celiac disease patients in the United States. J Clin Gastroenterol 2016;50:393–7.
  • Elding Larsson H, Vehik K, Gesualdo P, Akolkar B, Hagopian W, Krischer J, Lernmark Å, Rewers M, Simell O, She JX, Ziegler A, Haller MJ, TEDDY Study Group. Children followed in the TEDDY study are diagnosed with type 1 diabetes at an early stage of disease. Pediatr Diabetes 2014;15:118–26.
  • Chiang JL, Kirkman MS, Laffel LM, Peters AL, Type 1 Diabetes Sourcebook Authors. Type 1 diabetes through the life span: a position statement of the American Diabetes Association. Diabetes Care 2014;37:2034–54.
  • Catassi C, Fassano A. Coeliac disease. The debate on coeliac disease screening – are we there yet? Nat Rev Gastroenterol Hepatol 2014;11:457–8.
  • Díaz-Redondo A, Miranda-Bautista J, García-Lledó J, Gisbert JP, Menchén L. The potential usefulness of human leukocyte antigen typing for celiac disease screening: a systematic review and meta-analysis. Rev Esp Enferm Dig 2015;107:423–9.
  • Gutierrez-Achury J, Romanos J, Bakker SF, Kumar V, de Haas EC, Trynka G, Ricaño-Ponce I, Steck A, Type 1 Diabetes Genetics Consortium, Chen WM, Onengut-Gumuscu S, Simsek S, Diabeter Rewers M, Mulder CJ, Liu E, Rich SS, Wijmenga C. Contrasting the genetic background of type 1 diabetes and celiac disease autoimmunity. Diabetes Care 2015; 38:S37–S44.
  • Karell K, Louka AS, Moodie SJ, Ascher H, Clot F, Greco L, Ciclitira PJ, Sollid LM, Partanen J. European Genetics Cluster on Celiac Disease. HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European genetics cluster on celiac disease. Hum Immunol 2003;64:469–77.
  • Tye-Din JA, Cameron DJ, Daveson AJ, Day AS, Dellsperger P, Hogan C, Newnham ED, Shepherd SJ, Steele RH, Wienholt L, Varney MD. Appropriate clinical use of human leukocyte antigen typing for coeliac disease: an Australasian perspective. Intern Med J 2015;45:441–50.
  • Rewers M, Eisenbarth G. Celiac disease in T1DM – the need to look long term. Nat Rev Endocrinol 2011;8:5–8.
  • Mitchell RT, Sun A, Mayo A, Forgan M, Comrie A, Gillett PM. Coeliac screening in a Scottish cohort of children with type 1 diabetes mellitus: is DQ typing the way forward? Arch Dis Child 2016;101:230–3.
  • Chang M, Green PH. Genetic testing before serologic screening in relatives of patients with celiac disease as a cost containment method. J Clin Gastroenterol 2009;43:43–50.
  • Mearin ML. Coeliac disease: is it time for mass screening? Best Pract Res Clin Gastroenterol 2005;19:441–52.
  • Leonard MM, Serena G, Sturgeon C, Fasano A. Genetics and celiac disease: the importance of screening. Expert Rev Gastroenterol Hepatol 2015; 9:209–15.
  • Elias J, Hoorweg-Nijman JJ, Balemans WA. Clinical relevance and cost-effectiveness of HLA genotyping in children with Type 1 diabetes mellitus in screening for coeliac disease in the Netherlands. Diabet Med 2015; 32:834–8.
  • Gesualdo PD, Bautista KA, Waugh KC, Yu L, Norris JM, Rewers MJ, Baxter J. Feasibility of screening for T1D and celiac disease in a pediatric clinic setting. Pediatr Diabetes 2016;17:441–8.
  • Ghantous A, Saffery R, Cros MP, Ponsonby AL, Hirschfeld S, Kasten C, Dwyer T, Herceg Z, Hernandez-Vargas H. Optimized DNA extraction from neonatal dried blood spots: application in methylome profiling. BMC Biotechnol 2014;14:60–72.
  • Polley SD, Bell D, Oliver J, Tully F, Perkins MD, Chiodini PL, González IJ. The design and evaluation of shaped filter collection device to sample and store defined volume dried blood spots from finger pricks. Malar J 2015;14:45–51.
  • Abraham G, Tye-Din JA, Bhalala OG, Kowalczyk A, Zobel J, Inouye M. Accurate and robust genomic prediction of celiac disease using statistical learning. PLoS Genet 2014;10:e1004137.
  • Meehan C, Fout B, Ashcraft J, Schatz DA, Haller MJ. Screening for T1D risk to reduce DKA is not economically viable. Pediatr Diabetes 2015;16:565–72.
  • Sacchetti L, Tinto N, Calcagno G, Improta P, Salvatore F. Multiplex PCR typing of the three most frequent HLA alleles in celiac disease. Clin Chim Acta 2001;310:205–7.
  • Ponchel F, Toomes C, Bransfield K, Leong FT, Douglas SH, Field SL, Bell SM, Combaret V, Puisieux A, Mighell AJ, Robinson PA, Inglehearn CF, Isaacs JD, Markham AF. Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions. BMC Biotechnol 2003;3:18–31.
  • Mousavi-Fard SH, Merat S, Shahzamani K, Ghanbari R, Yahoo N, Sabahi F. Development of a SYBR green real time multiplex RT-PCR technique for simultaneous detection of HCV and GBV-C Co-infection in plasma samples. mbd 2014;1:41–9.
  • Clinical and Laboratory Standards Institute. Blood collection on filter paper for newborn screening programs; approved standard- Sixth Edition. CLSI document NBS01-A6. Wayne, PA. 2013.
  • Saavedra-Matiz CA, Isabelle JT, Biski CK, Duva SJ, Sweeney ML, Parker AL, Young AJ, Diantonio LL, Krein LM, Nichols MJ, Caggana M. Cost-effective and scalable DNA extraction method form dried blood spots. Clin Chem 2013;59:1045–51.
  • Olerup O, Aldener A, Fogdell A. HLA-DQB1 and –DQA1 typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours. Tissue Antigens 1993;41:119–34.
  • Mejía-León ME, Ruiz-Dyck KM, Calderón de la Barca AM. HLA-DQ genetic risk gradient for Type 1 diabetes and celiac disease in northwestern Mexico. Rev Gastroenterol Mex 2015;80:135–43.
  • Vargas-Alarcón G, Granados J, Rodríguez-Pérez JM, Parga C, Pérez-Hernández N, Rey D, Zuñiga J, Arnaiz-Villena A. Distribution of HLA class II alleles and haplotypes in Mexican Mestizo population: comparison with other populations. Immunol Invest 2010;39:268–83.
  • Sjöholm MI, Dillner J, Carlson J. Assessing quality and functionality of DNA from fresh and archival dried blood spots and recommendations for quality control guidelines. Clin Chem 2007;53:1401–7.
  • Giglio S, Monis PT, Saint CP. Demostration of preferential binding of SYBR Green I to specific DNA fragments in real-time multiplex PCR. Nucleic Acids Res 2003;31:40–136.
  • Monsuur AJ, de Bakker PI, Zhernakova A, Pinto D, Verduijn W, Romanos J, Auricchio R, Lopez A, van Heel DA, Crusius JB, Wijmenga C. Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms. PLoS One 2008;3:e2270.
  • Mubarak A, Spierings E, Wolters V, van Hoogstraten I, Kneepkens CM, Houwen R. Human leukocyte antigen DQ2.2 and celiac disease. J Pediatr Gastroenterol Nutr 2013;56:428–30.
  • Araya M, Oyarzun A, Lucero Y, Espinosa N, Pérez-Bravo F. DQ2, DQ7 and DQ8 distribution and clinical manifestations in celiac cases and their first-degree relatives. Nutrients 2015;7:4955–65.
  • Tinto N, Cola A, Piscopo C, Capuano M, Galatola M, Greco L, Sacchetti L. High frequency of haplotype HLA-DQ7 in celiac disease patients from South Italy: retrospective evaluation of 5,535 subjects at risk of celiac disease. PLoS One 2015;10:e0138324.
  • Wang H, Zhou G, Luo L, Crusius JB, Yuan A, Kou J, Yang G, Wang M, Wu J, von Blomberg BM, Morré SA, Peña AS, Xia B. Serological screening for celiac disease in adult Chinese patients with diarrhea predominant irritable bowel syndrome. Medicine (Baltimore) 2015;94:e1779.
  • Bodd M, Tollefsen S, Bergseng E, Lundin KE, Sollid LM. Evidence that HLA-DQ9 confers risk to celiac disease by presence of DQ9-restricted gluten-specific T cells. Hum Immunol 2012;73:376–81.
  • Brandao LC, Vatta S, Guimaraes R, Segat L, Araujo J, De Lima Filho JL, Arraes LC, Not T, Crovella S. Rapid genetic screening for major human leukocyte antigen risk haplotypes in patients with type 1 diabetes from Northeastern Brazil. Hum Immunol 2010; 71:277–80.
  • Koskinen L, Romanos J, Kaukinen K, Mustalahti K, Korponay-Szabo I, Barisani D, Bardella MT, Ziberna F, Vatta S, Széles G, Pocsai Z, Karell K, Haimila K, Adány R, Not T, Ventura A, Mäki M, Partanen J, Wijmenga C, Saavalainen P. Cost-effective HLA typing with tagging SNPs predicts celiac disease risk haplotypes in the Finnish, Hungarian, and Italian populations. Immunogenetics 2009; 61:247–56.

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