Table 1 Findings from haplotype analysis: definitions and distributions of SNPHAP for the selected VDR and LRP2 (MEGALIN) SNPs, n = 1,0241.

From: Vitamin D Metabolism-Related Gene Haplotypes and Their Association with Metabolic Disturbances Among African-American Urban Adults

 

SNP Haplotypes (SNPHAP)

Definitions

Distributions, %

VDR

[BsMI/ApaI/TaqI]

 

  Overall

VDR1: GCA [baT]

36.5

 

VDR2: AAG [BAt]

19.1

 

VDR3: GAA [bAT]

25.2

 

VDR4: AAA [BAT]

10.1

Allelic copies

VDR 1

VDR1: GCA

 

  0

 

68.0

  1

 

18.5

  2

 

13.6

VDR 2

VDR2: AAG

 

  0

 

78.5

  1

 

17.3

  2

 

4.2

VDR 3

VDR3: GAA

 

  0

 

27.3

  1

 

65.8

  2

 

6.8

VDR 4

VDR4: AAA

 

  0

 

90.2

  1

 

8.8

  2

 

1.0

MEGALIN

[rs3755166/rs2075252/rs2228171]

 

Overall

 

MEGALIN1:GCC

53.3

 

MEGALIN2:ACC

24.3

Allelic copies

MEGALIN 1

MEGALIN1:GCC

 

  0

 

10.1

  1

 

63.5

  2

 

26.5

MEGALIN 2

MEGALIN2:ACC

 

  0

 

64.9

  1

 

30.8

  2

 

4.3

  1. Abbreviations: SNP = Single Nucleotide Polymorphism; SNPHAP = Single Nucleotide Polymorphism Haplotype; VDR = Vitamin D receptor gene.
  2. 1SNPHAP were defined based on three VDR SNP combinations: BsmI, ApaI and TaqI and were expressed as dosage (0 = none, 1 = one copy, 2 = 2 copies) in the main analysis. SNPHAP were defined based on all three MEGALIN SNP combinations rs3755166/rs2075252/rs2228171 and were expressed as dosage (0 = none, 1 = one copy, 2 = 2 copies) in the main analysis.
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