Vitamin D receptor gene polymorphisms are linked to and associated with adult height.
BACKGROUND
The vitamin D receptor (VDR) gene is important to human stature, as it mediates metabolic pathways, calcium homeostasis, and phosphate homeostasis, which influence growth.


METHODS
We examined the relationship between VDR and adult height in 1873 white subjects from 406 nuclear families. Four SNPs, namely -4817A/G at intron 1, FokI C/T at exon 2 start codon, BsmI A/G at intron 8, and TaqI T/C at exon 9 in VDR were tested for linkage and association with adult height variation by the program QTDT (quantitative transmission disequilibrium test). The bT haplotype of the BsmI and TaqI loci was further tested for its association with height in unrelated samples randomly chosen from the 406 nuclear families by traditional population association methods.


RESULTS
All four tested SNPs were linked to adult height. Within family associations with height were detected at BsmI and TaqI loci (p = 0.048 and 0.039, respectively). Analyses based on BsmI/TaqI haplotypes also revealed evidence for linkage (p = 0.05) and association (p = 0.001) with height. The bT haplotype was significantly associated with higher adult height (p = 0.033, within family association test). Such an association might be female specific and influenced by menstrual status.


CONCLUSIONS
Our results strongly suggest that VDR may be linked to and associated with adult height variation in white populations.
Xiong
D-H
DH
Osteoporosis Research Center, Creighton University, Omaha, NE 68131, USA.
Xu
F-H
FH
Liu
P-Y
PY
Shen
H
H
Long
J-R
JR
Elze
L
L
Recker
R R
RR
Deng
H-W
HW
D000328:Adult; D001827:Body Height / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009679:Nuclear Family; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*
D018167:Receptors, Calcitriol
Am J Hum Genet. 2002 Feb;70(2):543-6
11753821
Genetics. 2001 Nov;159(3):1319-23
11729172
Br J Haematol. 2002 May;117(2):436-40
11972530
Endocrine. 2002 Feb;17(1):55-66
12014706
Am J Hum Genet. 2002 Sep;71(3):646-50
12119602
Mol Cell Endocrinol. 2002 Nov 29;197(1-2):15-21
12431791
J Endocrinol. 2003 May;177(2):147-96
12740006
J Clin Epidemiol. 2003 Apr;56(4):297-303
12767405
J Clin Endocrinol Metab. 2004 Jan;89(1):303-9
14715865
Calcif Tissue Int. 2003 Oct;73(4):332-8
12874698
Am J Hum Genet. 2004 May;74(5):866-75
15077203
BMC Genet. 2004 Feb 25;5:4
15113403
Hum Mol Genet. 2004 Aug 1;13(15):1633-9
15175274
Ann Hum Genet. 2004 Sep;68(Pt 5):472-88
15469424
Am J Hum Genet. 1993 Mar;52(3):506-16
8447318
J Gerontol A Biol Sci Med Sci. 1995 Jul;50(4):B237-44
7614237
Am J Hum Genet. 1996 Jun;58(6):1347-63
8651312
Horm Res. 1996;45 Suppl 2:56-8
8805046
J Bone Miner Res. 1996 Sep;11(9):1241-8
8864898
Am J Hum Genet. 1996 Nov;59(5):983-9
8900224
Am J Hum Genet. 1998 Jul;63(1):259-66
9634505
J Clin Endocrinol Metab. 1998 Oct;83(10):3563-8
9768665
Pediatr Res. 1998 Nov;44(5):628-32
9803441
Spine (Phila Pa 1976). 1998 Dec 1;23(23):2477-85
9854746
Am J Hum Genet. 1999 Jan;64(1):259-67
9915965
Biochim Biophys Acta. 1999 Mar 30;1453(3):311-20
10101249
Arch Dis Child. 1998 Dec;79(6):488-93; discussion 493-4
10210992
J Bone Miner Res. 1999 May;14(5):740-6
10320522
J Clin Endocrinol Metab. 1999 Jun;84(6):2043-8
10372708
Genetics. 1964 Oct;50:757-82
14221879
Am J Hum Genet. 2000 Jan;66(1):279-92
10631157
Am J Public Health. 2000 Apr;90(4):627-30
10754982
J Clin Endocrinol Metab. 2000 Apr;85(4):1666-70
10770213
J Bone Miner Res. 2001 Feb;16(2):379-85
11204438
Mol Endocrinol. 1997 Jul;11(8):1165-79
9212063
Calcif Tissue Int. 1997 Dec;61(6):460-3
9383272
Biochem Biophys Res Commun. 1998 Jan 26;242(3):467-73
9464239
J Bone Miner Res. 1998 Mar;13(3):325-49
9525333
J Bone Miner Res. 1998 Jun;13(6):925-30
9626623
Mol Cell Endocrinol. 2001 May 25;177(1-2):145-59
11377830
Am J Hum Genet. 2001 Jul;69(1):106-16
11410839
Am J Hum Genet. 2001 Jul;69(1):117-23
11410840
J Bone Miner Res. 2002 Apr;17(4):678-86
11918225