Association between a variation in the phosphodiesterase 4D gene and bone mineral density

BMC Medical Genetics

Table 2 Allele and genotype frequencies of rs1498608 in high and low lumbar spine BMD groups.

Sample	Allele/Genotype	Low N (Rel. Freq.)	High N (Rel. Freq.)	OR (95% C.I.)	P-value
Discovery (UK)
Female	A	52 (0.086)	77 (0.123)		0.035^a
	T	550 (0.914)	547 (0.877)	1.5 (1.0, 2.2)
	AA	1 (0.003)	9 (0.029)		0.026^b
	AT	50 (0.166)	59 (0.189)	7.6 (0.99, 340)	0.042^c
	TT	250 (0.831)	244 (0.782)	9.2 (1.3, 410)	0.020^c
Replication (AUS)
Female	A	15 (0.054)	30 (0.109)		0.018^a
	T	261 (0.946)	244 (0.891)	2.1 (1.1, 4.4)
	AA	0 (0.000)	3 (0.022)		0.048^b
	AT	15 (0.109)	24 (0.175)	4.4 (0.23, ∞)	0.541^c
	TT	123 (0.891)	110 (0.803)	7.8 (0.45, ∞)	0.108^c
Male	A	9 (0.132)	13 (0.191)		0.352^a
	T	59 (0.868)	55 (0.809)	1.6 (0.56, 4.5)
	AA	1 (0.029)	3 (0.088)		0.754^b
	AT	7 (0.206)	7 (0.206)	3.0 (0.17, 180)	0.588^c
	TT	26 (0.765)	24 (0.706)	3.3 (0.24, 180)	0.610^c

Abbreviations: Rel. Freq., relative frequency; OR, odds ratio; C.I., confidence interval. Odds ratios for the AT and TT genotypes are contrasted against the AA genotype. ^aChi-square test of heterogeneity comparing allele frequencies between high versus low. ^bFisher's exact test comparing three genotype frequencies between high versus low. ^cFisher's exact test comparing genotype frequencies in current table row and AA genotype between high versus low.

ISSN: 1471-2350