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J Med Genet 46:451-454 doi:10.1136/jmg.2008.064956
  • Short report

A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length

Table 2 Summary of the 15 loci analysed in discovery and replication cohorts
Chromosome Marker Position Allele β GWA (SE) p Values GWA β replication (SE) p Values replication β combined (SE) p Values combined Locus
1p35.2 rs7514514 31180643 G −0.109 (0.025) 1.30E−05 0.035 (0.030) 3.30E−01 −0.049 (0.019) 1.45E−02 PUM1*
1p35.2 rs12406355 31190045 A 0.089 (0.024) 1.60E−04 0 (0.027) 1.00E+00 0.05 (0.018) 6.30E−03 PUM1*
1q42.13 rs238102 227549771 C 0.08 (0.025) 9.73E−05 0.027 (0.030) 3.80E−01 0.059 (0.019) 2.10E−03 C1orf96§
1q42.13 rs238099 227575528 A 0.068 (0.023) 2.58E−04 0.006 (0.030) 8.60E−01 0.045 (0.018) 1.70E−02 C1orf96§
1q42.13 rs7549589 227586550 A 0.062 (0.024) 1.38E−03 −0.002 (0.034) 9.70E−01 0.037 (0.018) 5.70E−02 C1orf96§
1q44 rs3102458 242606491 A 0.086 (0.028) 2.10E−03 −0.002 (0.033) 1.00E+00 0.045 (0.022) 2.40E−02 C1orf100*
1q44 rs3123710 242611441 A −0.076 (0.023) 1.01E−03 0.015 (0.028) 4.20E−01 −0.041 (0.018) 3.30E−02 C1orf100*
1q44 rs3003211 242679607 A −0.082 (0.025) 8.40E−04 0.018 (0.030) 4.70E−01 −0.042 (0.019) 3.30E−02 ADSS*
2q22.2 rs1376749 143683862 G −0.123 (0.032) 1.10E−04 −0.059 (0.040) 1.49E−01 −0.102 (0.025) 6.20E−05 ARHGAP15*
2q22.2 rs12993643 143749432 G −0.093 (0.025) 1.80E−04 −0.013 (0.030) 6.60E−01 −0.062 (0.019) 1.32E−03 ARHGAP15*
2q22.2 rs4662198 143764197 C −0.095 (0.028) 6.00E−04 −0.025 (0.035) 4.70E−01 −0.069 (0.022) 1.50E−03 ARHGAP15*
2q33.1 rs1036533 201105969 G −0.157 (0.044) 3.90E−04 −0.048 (0.058) 6.10E−01 −0.115 (0.035) 8.90E−04 SGOL2†
2q33.1 rs10497853 201183402 A −0.16 (0.045) 4.30E−04 −0.066 (0.057) 2.50E−01 −0.125 (0.036) 1.03E−03 AOX1*
3p22–p21.3 rs1858740 38413376 G −0.081 (0.023) 3.40E−04 0.009 (0.028) 8.30E−01 −0.045 (0.018) 1.34E−02 XYLB*
3p22–p21.3 rs4407366 38496429 A −0.103 (0.023) 8.80E−06 0.04 (0.033) 2.60E−01 −0.054 (0.019) 6.50E−03 ACVR2B*
3p22–p21.3 rs7374458 38506215 C −0.105 (0.023) 5.20E−06 0.02 (0.028) 4.80E−01 −0.054 (0.018) 4.00E−03 ACVR2B‡
3p14.3 rs3774601 53797933 G −0.1 (0.024) 3.10E−05 0.049 (0.028) 8.60E−02 −0.038 (0.019) 3.80E−02 CACNA1D*
3p14.3 rs3774605 53805807 G −0.1 (0.024) 3.70E−05 0.053 (0.028) 6.00E−02 −0.035 (0.018) 5.70E−02 CACNA1D*
3p14.3 rs3774609 53807943 A −0.092 (0.024) 1.20E−04 0.04 (0.028) 1.48E−01 −0.036 (0.023) 7.40E−02 CACNA1D*
4q31.21 rs1907107 143449084 A 0.073 (0.023) 3.40E−04 −0.009 (0.026) 7.40E−01 0.034 (0.018) 4.90E−02 INPP4B*
4q31.21 rs2635429 143463006 G 0.067 (0.023) 2.72E−04 −0.02 (0.027) 4.80E−01 0.029 (0.018) 1.01E−01 INPP4B*
4q31.21 rs1497393 143493161 G −0.066 (0.023) 1.48E−04 0.025 (0.028) 3.70E−01 −0.029 (0.018) 1.10E−01 INPP4B*
8p23.1 rs4841067 8784655 A 0.139 (0.032) 1.90E−05 0.01 (0.038) 8.30E−01 0.088 (0.025) 5.70E−04 MFHAS1*
8p23.1 rs11778913 8852300 A 0.069 (0.026) 8.10E−03 0.057 (0.033) 8.40E−02 0.067 (0.021) 1.48E−03 THEX1§
8p23.1 rs11249943 9645273 A −0.084 (0.029) 3.60E−03 0.021 (0.033) 5.20E−01 −0.037 (0.022) 7.80E−02 TNKS*
8p23.1 rs6989782 9647948 G −0.076 (0.025) 2.52E−04 −0.003 (0.030) 8.80E−01 −0.048 (0.019) 1.14E−02 TNKS*
9q31.2 rs1570504 110094630 C −0.107 (0.033) 1.24E−03 0.016 (0.031) 4.60E−01 −0.055 (0.026) 2.90E−02 ACTL7B‡
9q31.2 rs1535619 110094886 A −0.075 (0.031) 1.50E−02 0.004 (0.037) 9.10E−01 −0.04 (0.024) 8.30E−02 ACTL7B‡
9q31.2 rs7028041 110096538 G −0.109 (0.034) 1.23E−03 0.017 (0.023) 5.50E−01 −0.05 (0.026) 4.40E−02 ACTL7B‡
13q31.3 rs9301921 93432990 A 0.08 (0.031) 5.25E−04 0.059 (0.037) 1.06E−01 0.074 (0.024) 2.20E−03 GPC6*
13q31.3 rs1415736 93444937 G 0.081 (0.031) 3.70E−04 0.061 (0.043) 1.60E−01 0.075 (0.026) 3.50E−03 GPC6*
14q22.2 rs4898848 54266336 A 0.072 (0.024) 4.53E−04 −0.001 (0.028) 8.00E−01 0.04 (0.018) 2.90E−02 SAMD4*
14q22.2 rs6572971 54280838 G 0.1 (0.032) 7.90E−04 −0.021 (0.039) 6.00E−01 0.052 (0.025) 4.80E−02 SAMD4*
14q22.2 rs1957356 54288744 G 0.092 (0.029) 9.65E−05 0.03 (0.033) 3.90E−01 0.064 (0.022) 2.70E−03 SAMD4*
16q24.2–q24.3 rs17214677 82008463 A 0.111 (0.037) 2.80E−03 −0.074 (0.046) 1.12E−01 0.038 (0.029) 2.10E−01 CDH13*
16q24.2–q24.3 rs11861722 82125547 A 0.124 (0.038) 9.70E−04 −0.098 (0.043) 2.30E−02 0.021 (0.029) 4.20E−01 CDH13*
16q24.2–q24.3 rs9934005 82137699 G 0.088 (0.027) 9.20E−04 −0.028 (0.031) 3.80E−01 0.034 (0.020) 8.50E−02 CDH13*
16q24.2–q24.3 rs12598842 82145455 A −0.059 (0.023) 8.80E−03 −0.007 (0.023) 1.00E+00 −0.038 (0.018) 4.40E−02 CDH13*
18q12.2 rs2162440 33468004 G −0.104 (0.029) 2.50E04 −0.119 (0.035) 1.08E03 −0.106 (0.022) 2.60E06 BRUNOL4§
18q12.2 rs7235755 33470259 G −0.104 (0.028) 2.60E04 −0.114 (0.035) 2.00E03 −0.103 (0.022) 5.50E06 BRUNOL4§
18q12.2 rs2217127 33475628 C −0.08 (0.025) 1.30E−03 −0.047 (0.035) 2.20E−01 −0.063 (0.020) 2.10E−03 BRUNOL4§
  • GWA, genome wide association; SE, standard error.

  • *Intron; †coding; ‡flanking 3′ UTR; §flanking 5′UTR.

  • Values in bold represent the two associated variants.

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