Table 2.

Thirty-one single-nucleotide polymorphisms of the claudin-14 3′ regions significantly associated with 24-hour calcium excretion

SNPChromosome 21 Position (Ch37.p13)DomainAllelesMAFP Valuer2 with rs219755SNP Blocks r2>0.8
rs21973837856682IntronA>G0.25<0.010.45Block A
rs21973937856536IntronC>T0.25<0.010.45Block A
rs963663237855760IntronA>G0.43<0.010.14
rs263332437854906IntronC>T0.25<0.010.45Block A
rs285011237854507IntronA>G0.25<0.010.45Block A
rs284576837854364IntronC>Ta0.25<0.010.45Block A
rs21975537847170IntronG>A0.26<0.001Block B
rs5618387437841692IntronC>T0.08<0.010.25Block C
21:37841612b37841612R>D0.29<0.0010.86Block B
21:37841064b37841064R>D0.28<0.010.83Block B
21:37840919b37840919R>D0.290.0020.85Block B
rs21975837840173IntronA>T0.29<0.0010.84Block B
rs21976337838421IntronA>A0.290.0020.84Block B
rs283536437838111IntronG>A0.08<0.010.24Block C
rs21976437837930IntronC>T0.260.0030.95Block B
rs727707637836973IntronC>T0.410.0020.47Block D
rs1262633037835982IntronG>C0.480.0020.36Block D
rs219768c37835764IntronC>G0.230.0040.02Block E
rs219769c37835675IntronC>A0.230.0040.02Block E
rs219770c37835648IntronA>G0.230.0040.02Block E
rs219771c37835501IntronC>T0.230.0040.02Block E
rs219772c37835347IntronA>T0.230.0040.02Block E
rs219773c37835333IntronG>A0.230.0040.02Block E
21:37835239b,c37835239R>D0.23<0.010.02Block E
21:37835238b,e37835238IntronR>D0.21<0.010.03Block E
21:37835184b37835184D>R0.420.0020.47
rs219775c37834944IntronA>G0.230.0040.02Block E
rs2835363c37834914IntronA>T0.230.0040.02Block E
rs219776c37834835IntronT>C0.230.0040.02Block E
rs219778c,d,e37834641IntronA>G0.230.0040.02Block E
rs219779c37833751ExonG>Af0.23<0.010.02Block E
rs219780c37833307ExonC>Tf0.180.040.04Block E
  • Findings reported here passed a false discovery rate of 5% (P<0.01). rs219780 was further included, because it was associated with calcium excretion in a previous work (14), even if multiple comparison failed. P values are for unadjusted association with 24-hour calcium excretion estimated with linear regression. The r2 column reports linkage disequilibrium between SNP and rs219755 (the strongest associated SNP). SNP, single-nucleotide polymorphism; MAF, minor allele frequency; —, SNP not included in any blocks.

  • a Noncoding transcript variant.

  • b Internal tag SNP in GWA Illumina array: not yet codified in international database; R and D are unknown bases of SNP.

  • c r2=0.99.

  • d r2=0.86 inside haplotype block E, r2=0.75 inside block D, r2=0.99 inside block C, and r2=1.00 inside block A.

  • e r2=0.71.

  • f Synonymous change.