Confirmation of Association of the Growth Hormone Receptor Gene with Mandibular Height
Figure S1Outline of quality control procedures showing the numbers of subjects and SNPs filtered by each step according to Japanese and Korean data sets.
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Figure S2 Distribution of the P values of the exact test for Hardy-Weinberg equilibrium (HWE). The -log10 P value for each SNP is plotted as the function of the measure ofexcess (or overrepresentation) of homozygotes, where Ho and He are the observed and expected heterozygosities, respectively. While the P values for the HWE test are continuously distributed near to P = 10-6 in a negative direction (i.e., excess of heterozygotes), the longer continuous tail is observed in a positive direction (i.e., excess of homozygotes). This seems to be consistent with the assumption that heterozygotes are difficult to identify so homozygotes are overrepresented because of genotyping errors. Therefore, we considered that the weaker level of deviation from HWE at P ≥ 10-6 could occur by chance, and set the threshold of P < 10-6 to exclude SNPs thatdeviatedfrom HWE.
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FigureS3Principal component analyses of Japanese, Korean, and HapMap phase III samples. a All HapMap samples included. b HapMap samples originating from East Asian populations included.
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Figure S4The statistical power of the GWAS of third molar agenesis.The statistical powers to detect common genetic variants of various effect sizes (odds ratio [OR]: 1.3, 1.5, 2.0, 2.5, and 3.0) under the sample size of 149 cases and 338 controls were plotted as the function of risk allele frequency at significant thresholdsofP < 10-4, P < 10-5, and P < 5×10-8
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a
b
c
Figure S5Quantile–quantile plots of test statistics for SNP associations in Japanese and Korean data sets for three types of phenotype regarding third molar agenesis. a)at least one third molar agenesis;b)maxillary third molar agenesis; andc)mandibular third molar agenesis.
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Table S1SNPs showing significant association signals at P<10-4 in a random-effects model meta-analysis combining Japanese and Korean data sets
a Comparisonbetween individuals with and without at least one third molar agenesis
Japan / Korea / Combined / HeterogeneitySNP / Chr / Position / Allele* / OR / 95% Cl / OR / 95% Cl / OR / 95% Cl / P / Cochran's Q / I2(%) / Gene / Effect
rs1469622 / 2 / 137875875 / T / 1.69 / 1.16-2.47 / 2.12 / 1.41-3.18 / 1.88 / 1.43-2.47 / 7.5×10-6 / 0.42 / 0 / THSD7B / intronic
rs12369725 / 12 / 13914407 / C / 2.44 / 1.50-3.98 / 1.86 / 1.16-2.97 / 2.12 / 1.51-2.97 / 1.4×10-5 / 0.43 / 0 / GRIN2B / intronic
rs13404290 / 2 / 237991777 / G / 2.12 / 1.41-3.18 / 1.72 / 1.12-2.65 / 1.92 / 1.43-2.58 / 1.5×10-5 / 0.49 / 0
rs1075010 / 12 / 13918341 / C / 2.28 / 1.41-3.68 / 1.88 / 1.18-3.00 / 2.07 / 1.48-2.89 / 2.1×10-5 / 0.57 / 0 / GRIN2B / intronic
rs6730767 / 2 / 235635006 / A / 2.89 / 1.51-5.54 / 2.80 / 1.37-5.73 / 2.85 / 1.76-4.61 / 2.1×10-5 / 0.95 / 0
rs10834449 / 11 / 24739804 / A / 1.88 / 1.28-2.74 / 0.56 / 0.37-0.85 / 1.84 / 1.39-2.43 / 2.2×10-5 / 0.88 / 0 / LUZP2 / intronic
rs1432205 / 2 / 137896264 / G / 1.73 / 1.19-2.53 / 1.90 / 1.27-2.85 / 1.81 / 1.37-2.38 / 2.4×10-5 / 0.74 / 0 / THSD7B / intronic
rs6459434 / 6 / 9823784 / T / 1.94 / 1.32-2.85 / 1.73 / 1.14-2.63 / 1.84 / 1.39-2.44 / 2.4×10-5 / 0.69 / 0
rs2218249 / 2 / 235628051 / C / 0.55 / 0.37-0.81 / 1.78 / 1.19-2.66 / 0.55 / 0.42-0.73 / 3.2×10-5 / 0.94 / 0
rs7577630 / 2 / 237992613 / T / 2.01 / 1.33-3.01 / 1.72 / 1.12-2.65 / 1.87 / 1.39-2.51 / 3.8×10-5 / 0.61 / 0 / COPS8 / 5upstream
rs492761 / 11 / 134117015 / C / 2.19 / 1.45-3.32 / 1.61 / 1.02-2.53 / 1.90 / 1.40-2.59 / 3.9×10-5 / 0.32 / 0 / THYN1 / 3downstream
rs12572318 / 10 / 43483490 / G / 0.40 / 0.24-0.69 / 0.49 / 0.28-0.87 / 0.44 / 0.30-0.65 / 4.3×10-5 / 0.63 / 0
rs484754 / 6 / 109042459 / T / 0.53 / 0.34-0.82 / 0.51 / 0.32-0.80 / 0.52 / 0.38-0.71 / 4.9×10-5 / 0.88 / 0
rs210837 / 17 / 32735169 / T / 2.40 / 1.48-3.89 / 1.72 / 1.04-2.85 / 2.05 / 1.44-2.91 / 5.8×10-5 / 0.35 / 0
rs10879232 / 12 / 71377563 / A / 1.77 / 1.19-2.64 / 1.88 / 1.21-2.92 / 1.82 / 1.35-2.45 / 7.5×10-5 / 0.85 / 0
rs11165783 / 1 / 97569544 / T / 1.88 / 1.29-2.75 / 1.60 / 1.07-2.39 / 1.74 / 1.33-2.30 / 7.5×10-5 / 0.56 / 0 / DPYD / intronic
rs1327249 / 10 / 6651563 / T / 0.52 / 0.35-0.77 / 0.61 / 0.40-0.93 / 0.56 / 0.42-0.75 / 8.3×10-5 / 0.58 / 0
rs2398624 / 5 / 3714522 / A / 1.87 / 1.23-2.85 / 1.76 / 1.16-2.69 / 1.81 / 1.35-2.44 / 8.3×10-5 / 0.85 / 0
rs7577873 / 2 / 208133793 / A / 1.97 / 1.30-2.99 / 1.72 / 1.09-2.73 / 1.86 / 1.36-2.53 / 8.8×10-5 / 0.67 / 0
rs10045568 / 5 / 158949047 / T / 1.60 / 1.10-2.34 / 1.89 / 1.27-2.83 / 1.73 / 1.32-2.28 / 9.2×10-5 / 0.56 / 0
rs4553350 / 11 / 12759834 / T / 1.57 / 1.06-2.32 / 1.98 / 1.32-2.96 / 1.75 / 1.32-2.33 / 9.4×10-5 / 0.42 / 0 / TEAD1 / intronic
*Putative susceptibility allele
Bold type represents coincident SNPs in three types of third molar agenesis phenotypes.
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b Comparisonbetween individuals with and without maxillary third molar agenesis
Japan / Korea / Combined / HeterogeneitySNP / Chr / Position / Allele* / OR / 95% Cl / OR / 95% Cl / OR / 95% Cl / P / Cochran's Q / I2(%) / Gene / Effect
rs523436 / 18 / 4295384 / C / 2.24 / 1.45-3.44 / 1.72 / 1.10-2.70 / 1.97 / 1.45-2.69 / 1.8×10-5 / 0.41 / 0 / DLGAP1 / intronic
rs6873059 / 5 / 121939965 / G / 1.90 / 1.26-2.85 / 1.88 / 1.24-2.85 / 1.89 / 1.44-2.53 / 1.9×10-5 / 0.97 / 0
rs12369725 / 12 / 13914407 / C / 2.47 / 1.49-4.10 / 1.85 / 1.14-2.99 / 2.12 / 1.50-3.01 / 2.4×10-5 / 0.41 / 0 / GRIN2B / intronic
rs7577873 / 2 / 208133793 / A / 2.14 / 1.38-3.31 / 1.83 / 1.14-2.94 / 1.99 / 1.45-2.74 / 2.6×10-5 / 0.64 / 0
rs1075010 / 12 / 13918341 / C / 2.36 / 1.43-3.87 / 1.88 / 1.17-3.03 / 2.09 / 1.48-2.95 / 2.6×10-5 / 0.52 / 0 / GRIN2B / intronic
rs2035262 / 17 / 4499121 / A / 2.49 / 1.55-3.99 / 1.73 / 1.00-3.00 / 2.13 / 1.49-3.05 / 3.5×10-5 / 0.33 / 0 / SMTNL2 / intronic
rs885033 / 18 / 36001458 / G / 0.56 / 0.37-0.85 / 1.92 / 1.26-2.91 / 0.54 / 0.40-0.73 / 4.2×10-5 / 0.82 / 0
rs11082076 / 18 / 36012486 / T / 0.57 / 0.38-0.86 / 1.95 / 1.28-2.97 / 0.54 / 0.40-0.73 / 4.3×10-5 / 0.72 / 0
rs1469622 / 2 / 137875875 / T / 1.74 / 1.16-2.60 / 1.94 / 1.28-2.94 / 1.83 / 1.37-2.45 / 4.5×10-5 / 0.71 / 0 / THSD7B / intronic
rs7836791 / 8 / 70859624 / G / 2.01 / 1.34-3.03 / 1.72 / 1.09-2.71 / 1.88 / 1.39-2.54 / 4.7×10-5 / 0.62 / 0
rs928261 / 21 / 26456343 / T / 3.19 / 1.68-6.03 / 2.14 / 1.05-4.36 / 2.67 / 1.66-4.29 / 5.0×10-5 / 0.41 / 0
rs9327261 / 5 / 121990722 / A / 2.01 / 1.34-3.02 / 1.64 / 1.08-2.50 / 1.82 / 1.36-2.44 / 5.4×10-5 / 0.49 / 0
rs9839782 / 3 / 122287289 / C / 1.63 / 1.08-2.47 / 2.08 / 1.36-3.16 / 1.84 / 1.37-2.47 / 5.4×10-5 / 0.42 / 0 / DTX3L / intronic
rs12683929 / 9 / 127613385 / A / 1.73 / 1.08-2.75 / 2.16 / 1.38-3.39 / 1.94 / 1.41-2.68 / 5.7×10-5 / 0.49 / 0
rs10845623 / 12 / 12898699 / C / 1.85 / 1.23-2.79 / 1.78 / 1.17-2.70 / 1.82 / 1.36-2.43 / 5.9×10-5 / 0.89 / 0 / APOLD1 / intronic
rs12110039 / 5 / 79368392 / G / 1.85 / 1.23-2.78 / 1.78 / 1.17-2.71 / 1.82 / 1.36-2.43 / 6.2×10-5 / 0.90 / 0 / THBS4 / intronic
rs7282042 / 21 / 15932610 / A / 1.74 / 1.14-2.66 / 2.04 / 1.30-3.19 / 1.87 / 1.38-2.55 / 6.8×10-5 / 0.62 / 0
rs1638586 / 11 / 67174597 / A / 1.77 / 1.18-2.66 / 1.84 / 1.22-2.80 / 1.80 / 1.35-2.41 / 7.1×10-5 / 0.89 / 0 / TBC1D10C / intronic
rs1511937 / 18 / 35994996 / G / 0.57 / 0.38-0.86 / 1.88 / 1.24-2.86 / 0.55 / 0.41-0.74 / 7.3×10-5 / 0.82 / 0
rs7204283 / 16 / 6836312 / T / 3.57 / 1.69-7.53 / 2.49 / 1.10-5.61 / 3.03 / 1.75-5.24 / 8.0×10-5 / 0.52 / 0 / RBFOX1 / intronic
rs17819948 / 18 / 71103611 / G / 2.51 / 1.25-5.03 / 2.39 / 1.34-4.26 / 2.44 / 1.57-3.80 / 8.3×10-5 / 0.92 / 0
rs1127343 / 3 / 122128394 / G / 2.16 / 1.29-3.63 / 1.94 / 1.19-3.16 / 2.04 / 1.43-2.91 / 8.3×10-5 / 0.76 / 0 / FAM162A / intronic
rs4675658 / 2 / 208145220 / T / 2.14 / 1.34-3.41 / 1.79 / 1.09-2.93 / 1.97 / 1.40-2.76 / 9.2×10-5 / 0.61 / 0
rs13398007 / 2 / 21469336 / A / 3.46 / 1.40-8.51 / 4.51 / 1.60-12.69 / 3.88 / 1.97-7.65 / 9.3×10-5 / 0.70 / 0
rs6459434 / 6 / 9823784 / T / 1.81 / 1.20-2.73 / 1.80 / 1.17-2.76 / 1.81 / 1.34-2.43 / 9.7×10-5 / 0.97 / 0
rs6024403 / 20 / 54347434 / C / 2.08 / 1.34-3.21 / 1.65 / 1.06-2.55 / 1.85 / 1.36-2.52 / 9.8×10-5 / 0.46 / 0
*Putative susceptibility allele.
Bold type represents coincident SNPs in three types of third molar agenesis phenotypes.
c Comparisonbetween individuals with and without mandibular third molar agenesis
SNP / Chr / Position / Allele* / OR / 95% Cl / OR / 95% Cl / OR / 95% Cl / P / Cochran's Q / I2(%) / Gene / Effect
rs938036 / 10 / 65658744 / T / 2.79 / 1.53-5.08 / 3.03 / 1.46-6.32 / 2.88 / 1.81-4.59 / 7.8×10-6 / 0.86 / 0
rs906628 / 11 / 134738270 / G / 3.72 / 1.49-9.29 / 5.09 / 2.04-12.68 / 4.35 / 2.28-8.30 / 8.3×10-6 / 0.63 / 0
rs4899377 / 14 / 71317212 / T / 0.34 / 0.18-0.65 / 0.44 / 0.25-0.77 / 0.40 / 0.26-0.60 / 1.6×10-5 / 0.57 / 0
rs2158530 / 14 / 71246995 / G / 0.32 / 0.17-0.61 / 0.47 / 0.27-0.81 / 0.40 / 0.26-0.61 / 1.6×10-5 / 0.38 / 0 / MAP3K9 / intronic
rs10141804 / 14 / 71249230 / A / 0.32 / 0.17-0.61 / 0.47 / 0.27-0.81 / 0.40 / 0.26-0.61 / 1.6×10-5 / 0.38 / 0 / MAP3K9 / intronic
rs12879624 / 14 / 71319317 / G / 0.34 / 0.18-0.65 / 0.44 / 0.25-0.77 / 0.40 / 0.26-0.61 / 1.7×10-5 / 0.56 / 0
rs4902843 / 14 / 71209025 / A / 0.30 / 0.15-0.58 / 0.47 / 0.27-0.81 / 0.39 / 0.26-0.60 / 1.9×10-5 / 0.31 / 3.18 / MAP3K9 / intronic
rs1801200 / 17 / 37879588 / C / 2.89 / 1.63-5.11 / 2.21 / 1.12-4.38 / 2.59 / 1.67-4.01 / 2.0×10-5 / 0.56 / 0
rs1054607 / 6 / 109814411 / T / 2.08 / 1.28-3.35 / 2.15 / 1.31-3.53 / 2.11 / 1.49-2.98 / 2.3×10-5 / 0.92 / 0 / AKD1 / 3utr
rs12444808 / 16 / 80053766 / T / 1.80 / 1.09-2.97 / 2.57 / 1.55-4.26 / 2.15 / 1.51-3.07 / 2.4×10-5 / 0.33 / 0
rs12972158 / 19 / 46158473 / A / 3.44 / 1.71-6.93 / 2.25 / 1.16-4.37 / 2.75 / 1.70-4.46 / 3.7×10-5 / 0.39 / 0
rs10834449 / 11 / 24739804 / A / 1.94 / 1.19-3.16 / 0.42 / 0.24-0.72 / 2.14 / 1.49-3.07 / 4.3×10-5 / 0.56 / 0 / LUZP2 / intronic
rs3802912 / 11 / 120738397 / G / 0.52 / 0.31-0.86 / 0.42 / 0.25-0.71 / 0.47 / 0.32-0.67 / 4.7×10-5 / 0.58 / 0 / GRIK4 / intronic
rs935523 / 3 / 74710819 / C / 2.65 / 1.11-6.33 / 3.44 / 1.71-6.95 / 3.11 / 1.80-5.36 / 4.8×10-5 / 0.65 / 0
rs4936562 / 11 / 120741937 / G / 0.49 / 0.30-0.82 / 0.45 / 0.26-0.75 / 0.47 / 0.33-0.68 / 4.9×10-5 / 0.79 / 0 / GRIK4 / intronic
rs7614879 / 3 / 78132623 / C / 2.14 / 1.30-3.52 / 2.08 / 1.23-3.51 / 2.11 / 1.47-3.03 / 5.2×10-5 / 0.94 / 0
rs10509178 / 10 / 64725655 / C / 2.06 / 1.26-3.35 / 2.06 / 1.25-3.41 / 2.06 / 1.45-2.92 / 5.4×10-5 / 0.99 / 0
rs3734652 / 6 / 109786980 / A / 2.03 / 1.26-3.28 / 2.03 / 1.23-3.34 / 2.03 / 1.44-2.87 / 6.2×10-5 / 1.00 / 0 / ZBTB24 / 3utr
rs2236084 / 6 / 109797304 / A / 2.03 / 1.26-3.28 / 2.03 / 1.23-3.34 / 2.03 / 1.44-2.87 / 6.2×10-5 / 1.00 / 0 / ZBTB24 / intronic
rs11693055 / 2 / 182033294 / G / 2.58 / 1.46-4.59 / 2.16 / 1.14-4.10 / 2.39 / 1.56-3.66 / 6.8×10-5 / 0.68 / 0
rs1454158 / 4 / 177290945 / A / 1.72 / 1.05-2.82 / 2.39 / 1.46-3.91 / 2.03 / 1.43-2.87 / 6.9×10-5 / 0.36 / 0
rs6015829 / 20 / 59345638 / A / 2.10 / 1.30-3.40 / 1.91 / 1.17-3.11 / 2.00 / 1.42-2.82 / 7.1×10-5 / 0.78 / 0
rs10132731 / 14 / 59458350 / T / 5.55 / 2.18-14.14 / 2.79 / 1.13-6.91 / 3.90 / 1.99-7.64 / 7.4×10-5 / 0.30 / 6.56
rs10774588 / 12 / 121652541 / T / 2.17 / 1.26-3.71 / 2.15 / 1.26-3.68 / 2.16 / 1.47-3.16 / 7.6×10-5 / 0.98 / 0 / P2RX4 / intronic
rs25644 / 12 / 121666646 / G / 2.17 / 1.26-3.71 / 2.15 / 1.26-3.68 / 2.16 / 1.47-3.16 / 7.6×10-5 / 0.98 / 0 / P2RX4 / coding
rs12786906 / 11 / 134684914 / T / 2.97 / 1.16-7.61 / 4.01 / 1.75-9.20 / 3.52 / 1.89-6.55 / 7.6×10-5 / 0.64 / 0
rs17355029 / 15 / 47447605 / G / 2.06 / 1.12-3.78 / 2.72 / 1.49-4.97 / 2.37 / 1.54-3.63 / 8.2×10-5 / 0.52 / 0
rs289156 / 15 / 62702643 / A / 2.00 / 1.19-3.35 / 2.16 / 1.29-3.60 / 2.08 / 1.44-2.99 / 8.2×10-5 / 0.84 / 0
rs13398007 / 2 / 21469336 / A / 4.04 / 1.60-10.22 / 3.80 / 1.37-10.54 / 3.93 / 1.98-7.81 / 9.3×10-5 / 0.93 / 0
rs1169717 / 12 / 121668684 / T / 2.08 / 1.20-3.59 / 2.21 / 1.29-3.80 / 2.15 / 1.46-3.15 / 9.9×10-5 / 0.88 / 0 / P2RX4 / intronic
*Putative susceptibility allele
Bold type represents coincident SNPs in three types of third molar agenesis phenotypes.
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Table S2Association of previously reported genesin a random-effects model meta-analysis combining Japanese and Korean data sets
aAssociationbetween individuals with and withoutat least one third molar agenesis
Japan / Korea / CombinedGene / Chr / Snp / Position / Minor allele / OR / 95% lcl / 95% ucl / P fisher / Minor allele / OR / 95% lcl / 95% ucl / P fisher / OR random / P random / P Cochran / I2
PAX9 / 14 / rs2295221 / 37125942 / G / 0.79 / 0.33 / 1.89 / 0.67 / G / 1.16 / 0.45 / 2.98 / 0.81 / 0.94 / 0.85 / 0.55 / 0.00
PAX9 / 14 / rs2295222 / 37126308 / T / 0.92 / 0.61 / 1.37 / 0.69 / T / 0.93 / 0.62 / 1.41 / 0.83 / 0.92 / 0.59 / 0.95 / 0.00
PAX9 / 14 / rs2073241 / 37128936 / A / 1.24 / 0.85 / 1.80 / 0.29 / C / 0.99 / 0.67 / 1.48 / 1.00 / 1.12 / 0.41 / 0.46 / 0.00
PAX9 / 14 / rs2073242 / 37129341 / T / 1.35 / 0.90 / 2.04 / 0.16 / T / 0.91 / 0.57 / 1.45 / 0.73 / 1.13 / 0.54 / 0.21 / 35.95
PAX9 / 14 / rs12883049 / 37132061 / C / 0.60 / 0.39 / 0.93 / 0.02 / C / 1.09 / 0.68 / 1.75 / 0.72 / 0.80 / 0.47 / 0.07 / 70.33
PAX9 / 14 / rs1955734 / 37138628 / A / 1.33 / 0.87 / 2.02 / 0.19 / A / 0.90 / 0.57 / 1.44 / 0.73 / 1.11 / 0.59 / 0.23 / 30.46
PAX9 / 14 / rs17176643 / 37142969 / A / 1.41 / 0.96 / 2.06 / 0.08 / A / 1.21 / 0.81 / 1.80 / 0.36 / 1.31 / 0.05 / 0.59 / 0.00
MSX1 / 4 / rs3821947 / 4860138 / T / 0.85 / 0.58 / 1.25 / 0.44 / T / 1.22 / 0.81 / 1.83 / 0.35 / 1.01 / 0.95 / 0.21 / 35.67
MSX1 / 4 / rs3821949 / 4860402 / T / 1.27 / 0.87 / 1.86 / 0.24 / T / 0.77 / 0.52 / 1.15 / 0.22 / 1.00 / 0.99 / 0.07 / 68.54
MSX1 / 4 / rs3775261 / 4863745 / C / 0.88 / 0.60 / 1.29 / 0.56 / C / 1.20 / 0.80 / 1.81 / 0.40 / 1.02 / 0.91 / 0.28 / 15.66
MSX1 / 4 / rs1042484 / 4864381 / G / 0.99 / 0.46 / 2.13 / 1.00 / G / 1.20 / 0.54 / 2.68 / 0.68 / 1.09 / 0.76 / 0.73 / 0.00
MSX1 / 4 / rs4464513 / 4867322 / T / 0.88 / 0.59 / 1.31 / 0.55 / T / 1.14 / 0.74 / 1.75 / 0.58 / 0.99 / 0.97 / 0.39 / 0.00
AXIN2 / 17 / rs7591 / 63525082 / A / 1.13 / 0.77 / 1.65 / 0.56 / A / 0.89 / 0.59 / 1.35 / 0.60 / 1.01 / 0.94 / 0.41 / 0.00
AXIN2 / 17 / rs4074947 / 63527220 / A / 0.82 / 0.55 / 1.20 / 0.33 / A / 0.89 / 0.58 / 1.36 / 0.67 / 0.85 / 0.26 / 0.76 / 0.00
AXIN2 / 17 / rs7210356 / 63528950 / T / 1.29 / 0.73 / 2.30 / 0.45 / T / 1.37 / 0.80 / 2.36 / 0.26 / 1.33 / 0.15 / 0.88 / 0.00
AXIN2 / 17 / rs4128941 / 63531331 / A / 0.91 / 0.60 / 1.36 / 0.68 / A / 0.90 / 0.58 / 1.40 / 0.66 / 0.90 / 0.50 / 0.99 / 0.00
AXIN2 / 17 / rs4541111 / 63534538 / A / 1.05 / 0.70 / 1.56 / 0.84 / A / 1.02 / 0.66 / 1.57 / 1.00 / 1.03 / 0.83 / 0.93 / 0.00
AXIN2 / 17 / rs4791171 / 63541497 / C / 0.99 / 0.66 / 1.47 / 1.00 / C / 1.11 / 0.74 / 1.68 / 0.67 / 1.05 / 0.76 / 0.69 / 0.00
AXIN2 / 17 / rs11079571 / 63548681 / T / 1.26 / 0.85 / 1.88 / 0.26 / T / 0.82 / 0.53 / 1.29 / 0.43 / 1.03 / 0.87 / 0.16 / 48.94
AXIN2 / 17 / rs3923087 / 63549261 / C / 0.92 / 0.61 / 1.37 / 0.69 / C / 1.18 / 0.78 / 1.78 / 0.46 / 1.04 / 0.81 / 0.39 / 0.00
AXIN2 / 17 / rs3923086 / 63549488 / C / 0.93 / 0.55 / 1.55 / 0.90 / C / 0.81 / 0.45 / 1.46 / 0.56 / 0.88 / 0.50 / 0.74 / 0.00
AXIN2 / 17 / rs2240307 / 63554307 / C / 0.82 / 0.49 / 1.37 / 0.52 / C / 0.78 / 0.42 / 1.46 / 0.54 / 0.80 / 0.28 / 0.91 / 0.00
OR: odds ratio.
95% lcl: 95% lower confidence limit of the OR.
95% ucl: 95% upper confidence limit of the OR.
P fisher: P-value of Fisher's exact test.
OR random: odds ratio of the random-effects model meta-analysis.
P random: P-value of the random-effects model meta-analysis.
P Cochran: P-value of Cochran's Q test.
I2: I2 metrics.
bAssociationbetween individuals with and withoutmaxillary third molar agenesis
Japan / Korea / CombinedGene / Chr / Snp / Position / Minor
allele / OR / 95% lcl / 95% ucl / P fisher / Minor
allele / OR / 95% lcl / 95% ucl / P fisher / OR random / P random / P Cochran / I2
PAX9 / 14 / rs2295221 / 37125942 / G / 0.53 / 0.18 / 1.55 / 0.36 / G / 1.39 / 0.54 / 3.57 / 0.46 / 0.89 / 0.81 / 0.19 / 42.96
PAX9 / 14 / rs2295222 / 37126308 / T / 0.92 / 0.60 / 1.42 / 0.74 / T / 0.93 / 0.60 / 1.42 / 0.75 / 0.93 / 0.62 / 1.00 / 0.00
PAX9 / 14 / rs2073241 / 37128936 / A / 1.22 / 0.82 / 1.83 / 0.35 / C / 1.07 / 0.71 / 1.62 / 0.75 / 1.07 / 0.64 / 0.36 / 0.00
PAX9 / 14 / rs2073242 / 37129341 / T / 1.54 / 0.99 / 2.37 / 0.06 / T / 0.91 / 0.56 / 1.47 / 0.72 / 1.19 / 0.50 / 0.11 / 60.70
PAX9 / 14 / rs12883049 / 37132061 / C / 0.46 / 0.28 / 0.76 / 0.00 / C / 1.22 / 0.75 / 1.97 / 0.45 / 0.75 / 0.56 / 0.01 / 86.56
PAX9 / 14 / rs1955734 / 37138628 / A / 1.56 / 1.00 / 2.42 / 0.06 / A / 0.90 / 0.56 / 1.46 / 0.72 / 1.19 / 0.52 / 0.10 / 62.95
PAX9 / 14 / rs17176643 / 37142969 / A / 1.54 / 1.03 / 2.31 / 0.05 / A / 1.22 / 0.80 / 1.84 / 0.40 / 1.37 / 0.03 / 0.42 / 0.00
MSX1 / 4 / rs3821947 / 4860138 / T / 0.81 / 0.54 / 1.22 / 0.35 / T / 1.13 / 0.74 / 1.72 / 0.59 / 0.95 / 0.76 / 0.27 / 17.80
MSX1 / 4 / rs3821949 / 4860402 / T / 1.33 / 0.88 / 1.99 / 0.18 / T / 0.85 / 0.56 / 1.28 / 0.46 / 1.06 / 0.79 / 0.13 / 56.58
MSX1 / 4 / rs3775261 / 4863745 / C / 0.80 / 0.53 / 1.20 / 0.30 / C / 1.21 / 0.79 / 1.85 / 0.39 / 0.98 / 0.92 / 0.16 / 48.55
MSX1 / 4 / rs1042484 / 4864381 / G / 1.19 / 0.54 / 2.61 / 0.68 / G / 1.45 / 0.65 / 3.23 / 0.39 / 1.31 / 0.35 / 0.73 / 0.00
MSX1 / 4 / rs4464513 / 4867322 / T / 0.75 / 0.49 / 1.16 / 0.24 / T / 1.09 / 0.70 / 1.70 / 0.73 / 0.90 / 0.59 / 0.24 / 28.68
AXIN2 / 17 / rs7591 / 63525082 / A / 0.86 / 0.57 / 1.30 / 0.53 / A / 0.89 / 0.58 / 1.37 / 0.66 / 0.87 / 0.38 / 0.91 / 0.00
AXIN2 / 17 / rs4074947 / 63527220 / A / 0.98 / 0.65 / 1.47 / 1.00 / A / 0.83 / 0.53 / 1.28 / 0.44 / 0.90 / 0.51 / 0.59 / 0.00
AXIN2 / 17 / rs7210356 / 63528950 / T / 1.55 / 0.85 / 2.81 / 0.19 / T / 1.44 / 0.83 / 2.51 / 0.24 / 1.49 / 0.06 / 0.86 / 0.00
AXIN2 / 17 / rs4128941 / 63531331 / A / 0.99 / 0.64 / 1.53 / 1.00 / A / 0.83 / 0.52 / 1.32 / 0.49 / 0.91 / 0.56 / 0.58 / 0.00
AXIN2 / 17 / rs4541111 / 63534538 / A / 0.83 / 0.54 / 1.29 / 0.44 / A / 1.02 / 0.65 / 1.59 / 1.00 / 0.92 / 0.59 / 0.54 / 0.00
AXIN2 / 17 / rs4791171 / 63541497 / C / 0.80 / 0.52 / 1.24 / 0.33 / C / 1.11 / 0.72 / 1.70 / 0.66 / 0.94 / 0.72 / 0.30 / 5.45
AXIN2 / 17 / rs11079571 / 63548681 / T / 1.26 / 0.82 / 1.92 / 0.32 / T / 0.84 / 0.53 / 1.34 / 0.49 / 1.04 / 0.85 / 0.21 / 36.49
AXIN2 / 17 / rs3923087 / 63549261 / C / 0.76 / 0.49 / 1.18 / 0.23 / C / 1.18 / 0.77 / 1.80 / 0.51 / 0.95 / 0.80 / 0.16 / 48.82
AXIN2 / 17 / rs3923086 / 63549488 / C / 0.79 / 0.44 / 1.39 / 0.49 / C / 0.68 / 0.36 / 1.27 / 0.29 / 0.73 / 0.15 / 0.73 / 0.00
AXIN2 / 17 / rs2240307 / 63554307 / C / 1.03 / 0.60 / 1.76 / 0.89 / C / 0.85 / 0.45 / 1.62 / 0.75 / 0.95 / 0.81 / 0.66 / 0.00
OR: odds ratio.
95% lcl: 95% lower confidence limit of the OR.
95% ucl: 95% upper confidence limit of the OR.
P fisher: P-value of Fisher's exact test.
OR random: odds ratio of the random-effects model meta-analysis.
P random: P-value of the random-effects model meta-analysis.
P Cochran: P-value of Cochran's Q test.
I2: I2 metrics.
cAssociationbetween individuals with and without mandibular third molar agenesis
Japan / Korea / CombinedGene / Chr / Snp / Position / Minor allele / OR / 95% lcl / 95% ucl / P fisher / Minor allele / OR / 95% lcl / 95% ucl / P fisher / OR random / P random / P Cochran / I2
PAX9 / 14 / rs2295221 / 37125942 / G / 1.23 / 0.45 / 3.34 / 0.60 / G / 1.15 / 0.37 / 3.54 / 0.77 / 1.20 / 0.64 / 0.93 / 0.00
PAX9 / 14 / rs2295222 / 37126308 / T / 0.80 / 0.48 / 1.35 / 0.44 / T / 1.17 / 0.71 / 1.92 / 0.61 / 0.98 / 0.90 / 0.31 / 4.78
PAX9 / 14 / rs2073241 / 37128936 / A / 0.83 / 0.51 / 1.35 / 0.54 / C / 0.98 / 0.60 / 1.59 / 1.00 / 0.92 / 0.65 / 0.56 / 0.00
PAX9 / 14 / rs2073242 / 37129341 / T / 1.36 / 0.82 / 2.28 / 0.27 / T / 0.91 / 0.52 / 1.61 / 0.89 / 1.14 / 0.52 / 0.31 / 4.31
PAX9 / 14 / rs12883049 / 37132061 / C / 1.03 / 0.61 / 1.73 / 0.90 / C / 1.06 / 0.60 / 1.88 / 0.88 / 1.04 / 0.83 / 0.93 / 0.00
PAX9 / 14 / rs1955734 / 37138628 / A / 1.23 / 0.72 / 2.10 / 0.48 / A / 0.91 / 0.52 / 1.60 / 0.78 / 1.07 / 0.74 / 0.44 / 0.00
PAX9 / 14 / rs17176643 / 37142969 / A / 0.93 / 0.57 / 1.51 / 0.81 / A / 1.19 / 0.74 / 1.94 / 0.54 / 1.05 / 0.77 / 0.47 / 0.00
PAX9 / 14 / rs11847165 / 37146475 / A / 1.50 / 0.82 / 2.76 / 0.23 / A / 0.99 / 0.55 / 1.77 / 1.00 / 1.21 / 0.38 / 0.33 / 0.00
MSX1 / 4 / rs3821947 / 4860138 / T / 1.03 / 0.63 / 1.67 / 1.00 / T / 1.06 / 0.64 / 1.74 / 0.90 / 1.04 / 0.81 / 0.94 / 0.00
MSX1 / 4 / rs3821949 / 4860402 / T / 1.16 / 0.72 / 1.87 / 0.62 / T / 0.82 / 0.50 / 1.33 / 0.46 / 0.97 / 0.88 / 0.32 / 0.56
MSX1 / 4 / rs3775261 / 4863745 / C / 0.94 / 0.58 / 1.53 / 0.90 / C / 1.08 / 0.66 / 1.78 / 0.80 / 1.01 / 0.97 / 0.69 / 0.00
MSX1 / 4 / rs1042484 / 4864381 / G / 0.33 / 0.08 / 1.42 / 0.14 / G / 1.58 / 0.65 / 3.84 / 0.31 / 0.81 / 0.78 / 0.07 / 68.76
MSX1 / 4 / rs4464513 / 4867322 / T / 1.16 / 0.71 / 1.89 / 0.61 / T / 0.94 / 0.55 / 1.58 / 0.89 / 1.05 / 0.80 / 0.56 / 0.00
AXIN2 / 17 / rs7591 / 63525082 / A / 1.42 / 0.88 / 2.29 / 0.17 / A / 0.84 / 0.5078 / 1.395 / 0.53 / 1.10 / 0.71 / 0.14 / 53.93
AXIN2 / 17 / rs4074947 / 63527220 / A / 0.64 / 0.39 / 1.07 / 0.11 / A / 0.96 / 0.5753 / 1.606 / 1.00 / 0.78 / 0.23 / 0.27 / 17.56
AXIN2 / 17 / rs7210356 / 63528950 / T / 0.75 / 0.33 / 1.71 / 0.57 / T / 1.02 / 0.5174 / 2.009 / 1.00 / 0.90 / 0.69 / 0.57 / 0.00
AXIN2 / 17 / rs4128941 / 63531331 / A / 0.74 / 0.43 / 1.26 / 0.30 / A / 0.99 / 0.5801 / 1.689 / 1.00 / 0.85 / 0.41 / 0.44 / 0.00
AXIN2 / 17 / rs4541111 / 63534538 / A / 1.25 / 0.76 / 2.06 / 0.44 / A / 0.96 / 0.5664 / 1.625 / 1.00 / 1.10 / 0.59 / 0.47 / 0.00
AXIN2 / 17 / rs4791171 / 63541497 / C / 1.08 / 0.66 / 1.78 / 0.80 / C / 0.97 / 0.582 / 1.603 / 1.00 / 1.02 / 0.90 / 0.76 / 0.00
AXIN2 / 17 / rs11079571 / 63548681 / T / 1.45 / 0.89 / 2.38 / 0.15 / T / 0.93 / 0.542 / 1.597 / 0.89 / 1.18 / 0.46 / 0.23 / 29.54
AXIN2 / 17 / rs3923087 / 63549261 / C / 0.92 / 0.55 / 1.54 / 0.80 / C / 1.12 / 0.676 / 1.841 / 0.70 / 1.02 / 0.93 / 0.60 / 0.00
AXIN2 / 17 / rs3923086 / 63549488 / C / 1.01 / 0.53 / 1.93 / 1.00 / C / 1.34 / 0.7004 / 2.566 / 0.38 / 1.16 / 0.51 / 0.55 / 0.00
AXIN2 / 17 / rs2240307 / 63554307 / C / 0.51 / 0.24 / 1.10 / 0.10 / C / 0.42 / 0.1624 / 1.093 / 0.09 / 0.47 / 0.01 / 0.76 / 0.00
OR: odds ratio.
95% lcl: 95% lower confidence limit of the OR.
95% ucl: 95% upper confidence limit of the OR.
P fisher: P-value of Fisher's exact test.
OR random: odds ratio of the random-effects model meta-analysis.
P random: P-value of the random-effects model meta-analysis.
P Cochran: P-value of Cochran's Q test.
I2: I2 metrics.
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