Genome-Wide Association Study Identifies Four Loci Associated with Eruption of Permanent Teeth
The sequence and timing of permanent tooth eruption is thought to be highly heritable and can have important implications for the risk of malocclusion, crowding, and periodontal disease. We conducted a genome-wide association study of number of permanent teeth erupted between age 6 and 14 years, analyzed as age-adjusted standard deviation score averaged over multiple time points, based on childhood records for 5,104 women from the Danish National Birth Cohort. Four loci showed association at P<5×10−8 and were replicated in four independent study groups from the United States and Denmark with a total of 3,762 individuals; all combined P-values were below 10−11. Two loci agreed with previous findings in primary tooth eruption and were also known to influence height and breast cancer, respectively. The two other loci pointed to genomic regions without any previous significant genome-wide association study results. The intronic SNP rs7924176 in ADK could be linked to gene expression in monocytes. The combined effect of the four genetic variants was most pronounced between age 10 and 12 years, where children with 6 to 8 delayed tooth eruption alleles had on average 3.5 (95% confidence interval: 2.9–4.1) fewer permanent teeth than children with 0 or 1 of these alleles.
Vyšlo v časopise:
Genome-Wide Association Study Identifies Four Loci Associated with Eruption of Permanent Teeth. PLoS Genet 7(9): e32767. doi:10.1371/journal.pgen.1002275
Kategorie:
Research Article
prolekare.web.journal.doi_sk:
https://doi.org/10.1371/journal.pgen.1002275
Souhrn
The sequence and timing of permanent tooth eruption is thought to be highly heritable and can have important implications for the risk of malocclusion, crowding, and periodontal disease. We conducted a genome-wide association study of number of permanent teeth erupted between age 6 and 14 years, analyzed as age-adjusted standard deviation score averaged over multiple time points, based on childhood records for 5,104 women from the Danish National Birth Cohort. Four loci showed association at P<5×10−8 and were replicated in four independent study groups from the United States and Denmark with a total of 3,762 individuals; all combined P-values were below 10−11. Two loci agreed with previous findings in primary tooth eruption and were also known to influence height and breast cancer, respectively. The two other loci pointed to genomic regions without any previous significant genome-wide association study results. The intronic SNP rs7924176 in ADK could be linked to gene expression in monocytes. The combined effect of the four genetic variants was most pronounced between age 10 and 12 years, where children with 6 to 8 delayed tooth eruption alleles had on average 3.5 (95% confidence interval: 2.9–4.1) fewer permanent teeth than children with 0 or 1 of these alleles.
Zdroje
1. BeunenGPRogolADMalinaRM 2006 Indicators of biological maturation and secular changes in biological maturation. Food Nutr Bull 27 S244 S256
2. HaggUTarangerJ 1985 Dental development, dental age and tooth counts. Angle Orthod 55 93 107
3. HelmSSeidlerB 1974 Timing of permanent tooth emergence in Danish children. Community Dent Oral Epidemiol 2 122 129
4. LeroyRBogaertsKLesaffreEDeclerckD 2003 The emergence of permanent teeth in Flemish children. Community Dent Oral Epidemiol 31 30 39
5. EskeliRLaine-AlavaMTHausenHPahkalaR 1999 Standards for permanent tooth emergence in Finnish children. Angle Orthod 69 529 533
6. PsoterWGebrianBPropheteSReidBKatzR 2008 Effect of early childhood malnutrition on tooth eruption in Haitian adolescents. Community Dent Oral Epidemiol 36 179 189
7. LeroyRBogaertsKLesaffreEDeclerckD 2003 Impact of caries experience in the deciduous molars on the emergence of the successors. Eur J Oral Sci 111 106 110
8. KorfSR 1965 The eruption of permanent central incisors following premature loss of their antecedents. ASDC J Dent Child 32 39 44
9. ChailletNNystromMDemirjianA 2005 Comparison of dental maturity in children of different ethnic origins: international maturity curves for clinicians. J Forensic Sci 50 1164 1174
10. LalSChengBKaplanSSoftnessBGreenbergE 2008 Accelerated tooth eruption in children with diabetes mellitus. Pediatrics 121 e1139 e1143
11. LehtinenAOksaTHeleniusHRonningO 2000 Advanced dental maturity in children with juvenile rheumatoid arthritis. Eur J Oral Sci 108 184 188
12. SuriLGagariEVastardisH 2004 Delayed tooth eruption: pathogenesis, diagnosis, and treatment. A literature review. Am J Orthod Dentofacial Orthop 126 432 445
13. TownsendGHughesTLucianoMBockmannMBrookA 2009 Genetic and environmental influences on human dental variation: a critical evaluation of studies involving twins. Arch Oral Biol 54 Suppl 1 S45 S51
14. PelsmaekersBLoosRCarelsCDeromCVlietinckR 1997 The genetic contribution to dental maturation. J Dent Res 76 1337 1340
15. HughesTEBockmannMRSeowKGotjamanosTGullyN 2007 Strong genetic control of emergence of human primary incisors. J Dent Res 86 1160 1165
16. PillasDHoggartCJEvansDMO'ReillyPFSipilaK 2010 Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. PLoS Genet 6 e1000856
17. OlsenJMelbyeMOlsenSFSorensenTIAabyP 2001 The Danish National Birth Cohort–its background, structure and aim. Scand J Public Health 29 300 307
18. WeedonMNLettreGFreathyRMLindgrenCMVoightBF 2007 A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat Genet 39 1245 1250
19. StaceySNManolescuASulemPRafnarTGudmundssonJ 2007 Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 39 865 869
20. CarpenterDRingroseCLeoVMorrisARobinsonRL 2009 The role of CACNA1S in predisposition to malignant hyperthermia. BMC Med Genet 10 104
21. LevanoSVukcevicMSingerMMatterATrevesS 2009 Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat 30 590 598
22. LinSHHsuYDChengNLKaoMC 2005 Skeletal muscle dihydropyridine-sensitive calcium channel (CACNA1S) gene mutations in chinese patients with hypokalemic periodic paralysis. Am J Med Sci 329 66 70
23. NgWYLuiKFThaiACCheahJS 2004 Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis. Thyroid 14 187 190
24. LucarelliPScacchiRCorboRMPalmarinoROrsiniM 1978 Genetic polymorphisms in juvenile-onset diabetes. Hum Hered 28 89 95
25. GrupeALiYRowlandCNowotnyPHinrichsAL 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Am J Hum Genet 78 78 88
26. FletcherOJohnsonNOrrNHoskingFJGibsonLJ 2011 Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. J Natl Cancer Inst 103 425 435
27. LiJHumphreysKHeikkinenTAittomakiKBlomqvistC 2011 A combined analysis of genome-wide association studies in breast cancer. Breast Cancer Res Treat 126 717 727
28. AntoniouACWangXFredericksenZSMcGuffogLTarrellR 2010 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet 42 885 892
29. TurnbullCAhmedSMorrisonJPernetDRenwickA 2010 Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet 42 504 507
30. ThomasGJacobsKBKraftPYeagerMWacholderS 2009 A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet 41 579 584
31. HunterDJKraftPJacobsKBCoxDGYeagerM 2007 A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 39 870 874
32. EastonDFPooleyKADunningAMPharoahPDThompsonD 2007 Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447 1087 1093
33. ElksCEPerryJRSulemPChasmanDIFranceschiniN 2010 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet 42 1077 1085
34. Lango AllenHEstradaKLettreGBerndtSIWeedonMN 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467 832 838
35. Onland-MoretNCPeetersPHvan GilsCHClavel-ChapelonFKeyT 2005 Age at menarche in relation to adult height: the EPIC study. Am J Epidemiol 162 623 632
36. ZellerTWildPSzymczakSRotivalMSchillertA 2010 Genetics and beyond–the transcriptome of human monocytes and disease susceptibility. PLoS One 5 e10693
37. DemirjianABuschangPHTanguayRPattersonDK 1985 Interrelationships among measures of somatic, skeletal, dental, and sexual maturity. Am J Orthod 88 433 438
38. PruimRJWelchRPSannaSTeslovichTMChinesPS 2010 LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 26 2336 2337
39. CornelisMCAgrawalAColeJWHanselNNBarnesKC 2010 The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions. Genet Epidemiol 34 364 372
40. NohrEATimpsonNJAndersenCSDaveySGOlsenJ 2009 Severe obesity in young women and reproductive health: the Danish National Birth Cohort. PLoS One 4 e8444
41. HansenTOlsenLLindowMJakobsenKDUllumH 2007 Brain expressed microRNAs implicated in schizophrenia etiology. PLoS One 2 e873
42. WangXShafferJRWeyantRJCuencoKTDeSensiRS 2010 Genes and their effects on dental caries may differ between primary and permanent dentitions. Caries Res 44 277 284
43. PolkDEWeyantRJCroutRJMcNeilDWTarterRE 2008 Study protocol of the Center for Oral Health Research in Appalachia (COHRA) etiology study. BMC Oral Health 8 18
44. FranzmanMRLevySMWarrenJJBroffittB 2004 Tooth-brushing and dentifrice use among children ages 6 to 60 months. Pediatr Dent 26 87 92
45. MarshallTALevySMBroffittBWarrenJJEichenberger-GilmoreJM 2003 Dental caries and beverage consumption in young children. Pediatrics 112 e184 e191
46. LevySMWarrenJJBroffittB 2003 Patterns of fluoride intake from 36 to 72 months of age. J Public Health Dent 63 211 220
47. WarrenJJLevySMKanellisMJ 2002 Dental caries in the primary dentition: assessing prevalence of cavitated and noncavitated lesions. J Public Health Dent 62 109 114
48. AnttilaVStefanssonHKallelaMTodtUTerwindtGM 2010 Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat Genet 42 869 873
49. HelmS 1973 Recording system for the Danish Child Dental Health Services. Community Dent Oral Epidemiol 1 3 8
50. HansenIFoldspangAPoulsenS 2001 Use of a national database for strategic management of municipal oral health services for Danish children and adolescents. Community Dent Oral Epidemiol 29 92 98
51. Rasmussen-TorvikLJAlonsoALiMKaoWKottgenA 2010 Impact of repeated measures and sample selection on genome-wide association studies of fasting glucose. Genet Epidemiol 34 665 673
52. PurcellSNealeBTodd-BrownKThomasLFerreiraMA 2007 PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81 559 575
53. WillerCJLiYAbecasisGR 2010 METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26 2190 2191
54. PedersenCBGotzscheHMollerJOMortensenPB 2006 The Danish Civil Registration System. A cohort of eight million persons. Dan Med Bull 53 441 449
55. LiYWillerCJDingJScheetPAbecasisGR 2006 MaCH: using sequence and genotype data to estimate haplotypes and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 34 816 834
Štítky
Genetika Reprodukčná medicínaČlánok vyšiel v časopise
PLOS Genetics
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