Table 2 Associations between sulfate-lowering SNVs and clinical phenotypes
(A) Trait (PAPI)Sulfate-lowering SNV(s)nHet.Hom.βSNV ± SE (U/L)βSNV/MeanWTPSNV
ALTSLC13A1 R12X or W48X6842003.73 ± 1.740.200.03
SLC26A1 L348P650716−0.08 ± 0.840.000.92
ASTSLC13A1 R12X or W48X6842002.13 ± 1.260.110.09
(B) Trait (AFLS)SNV Covariate(s)nHet.Hom.βSNV ± SE (U/L)βSNV/MeanWTPSNV
ALTSLC13A1 R12X or W48X264707.25 ± 2.330.422.0 × 10−3
SLC26A1 L348P2322120.81 ± 1.200.040.50
ASTSLC13A1 R12X or W48X2647010.42 ± 1.920.551.3 × 10−7
SLC26A1 L348P2322122.42 ± 0.890.136.8 × 10−3
(C) TraitSulfate-lowering SNV(s)nHet.Hom.βSNV ± SEβSNV/MeanWTPSNV
Whole-body BMD (g/cm2)SLC13A1 R12X or W48X679200−0.03 ± 0.02−0.030.19
SLC26A1 L348P645696−0.03 ± 0.01−0.036.8 × 10−3
Calcium (mg/dl)SLC13A1 R12X or W48X6842000.00 ± 0.070.000.98
SLC26A1 L348P6507160.11 ± 0.030.011.4 × 10−3
Corrected calcium (mg/dl)SLC13A1 R12X or W48X684200−0.03 ± 0.060.000.68
SLC26A1 L348P6507100.06 ± 0.030.010.06
(D) BMD TraitSulfate-lowering SNV(s)nHet.Hom.βSNV ± SE (g/cm2)βSNV/MeanWTPSNV
MidarmSLC13A1 R12X or W48X680200−0.02 ± 0.01−0.040.08
SLC26A1 L348P646706−0.01 ± 0.01−0.020.03
1/3-armSLC13A1 R12X or W48X680200−0.03 ± 0.02−0.040.08
SLC26A1 L348P646706−0.02 ± 0.01−0.020.03
Total-armSLC13A1 R12X or W48X680200−0.02 ± 0.01−0.040.06
SLC26A1 L348P646706−0.02 ± 0.01−0.020.01
Ultradistal-armSLC13A1 R12X or W48X680200−0.02 ± 0.01−0.030.26
SLC26A1 L348P646706−0.01 ± 0.01−0.030.03
Femoral neckSLC13A1 R12X or W48X681200−0.02 ± 0.03−0.020.46
SLC26A1 L348P647706−0.02 ± 0.01−0.020.26
IntertrochanterSLC13A1 R12X or W48X680200−0.04 ± 0.04−0.030.35
SLC26A1 L348P646706−0.05 ± 0.02−0.045.1 × 10−3
Total-hipSLC13A1 R12X or W48X681200−0.03 ± 0.03−0.030.28
SLC26A1 L348P647706−0.04 ± 0.01−0.040.01
TrochanterSLC13A1 R12X or W48X680200−0.03 ± 0.03−0.040.23
SLC26A1 L348P646706−0.03 ± 0.01−0.030.04
Total-spineSLC13A1 R12X or W48X679200−0.03 ± 0.03−0.030.39
SLC26A1 L348P645706−0.03 ± 0.02−0.030.10
  • Adjusted for age and gender. The P-value of significant associations are highlighted in bold text. (A) Serum alanine aminotransferase (ALT) and aspartate aminotransferase (AST) levels from the Amish Pharmacogenomics of Antiplatelet Intervention (PAPI) Study. (B) Serum ALT and AST levels from the Amish Family Longevity Study (AFLS). (C) Whole-body bone mineral density (BMD) and serum calcium from the Amish PAPI Study. (D) Additional BMD measurements from the Amish PAPI Study. Het., heterozygotes; Hom., homozygotes; SE, standard error; WT, wild type.