Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10

Jonsson, Lina; Zettergren, Anna; Pettersson, Erik; Hovey, Daniel; Anckarsäter, Henrik; Westberg, Lars; Lichtenstein, Paul; Lundström, Sebastian; Melke, Jonas

doi:10.1186/2040-2392-5-55

Molecular Autism

Table 3 Association between genetic factors for neurodevelopmental problems (NDPs) and five SNPs

From: Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10

			General NDP^a						Impulsivity^a			Learning problems^a			Tics and autism^a
Gene/SNP	MAF	Genotype	N	A ll	N	B oys	N	G irls	A ll	B oys	G irls	A ll	B oys	G irls	A ll	B oys	G irls
CDH9/10
rs4307059	0.37(C)	C/C	1,149	0.128 (0.70)	538	0.235 (0.72)	611	0.034 (0.66)	0.032 (0.53)	0.034 (0.53)	0.030 (0.52)	0.002 (0.59)	0.017 (0.62)	-0.010 (0.57)	0.067 (0.51)	0.144 (0.51)	-0.002 (0.49)
		T/C	3,923	0.172 (0.71)	1,998	0.275 (0.73)	1,925	0.064 (0.68)	0.028 (0.54)	0.021 (0.55)	0.034 (0.53)	0.051 (0.62)	0.085 (0.65)	0.016 (0.58)	0.069 (0.55)	0.138 (0.58)	-0.003 (0.50)
		T/T	3,424	0.132 (0.69)	1,711	0.244 (0.71)	1,713	0.019 (0.66)	0.023 (0.54)	0.038 (0.55)	0.009 (0.52)	0.031 (0.62)	0.066 (0.65)	-0.004 (0.59)	0.057 (0.50)	0.105 (0.53)	0.009 (0.47)
P value^b				0.962		0.661		0.811	0.554	0.571	0.959	0.401	0.474	0.702	0.734	0.702	0.695
Effect size (CI 95%)^c				0.001 (-0.021, 0.022)		0.007 (-0.024, 0.037)		-0.004 (-0.034, 0.027)	0.005 (-0.011, 0.021)	0.006 (-0.016, 0.029)	0.001 (-0.024, 0.025)	-0.007 (-0.023, 0.009)	-0.008 (-0.028, 0.013)	-0.005 (-0.033, 0.022)	0.002 (-0.012, 0.017)	0.004 (-0.017, 0.025)	0.004 (-0.018, 0.026)
CNTNAP2
rs2710102	0.48(G)	A/A	2,316	0.121 (0.70)	1,153	0.203 (0.72)	1,163	0.040 (0.68)	0.004 (0.53)	0.002 (0.54)	0.007 (0.51)	0.050 (0.61)	0.056 (0.62)	0.043 (0.60)	0.057 (0.53)	0.126 (0.56)	-0.012 (0.49)
		A/G	4,242	0.158 (0.70)	2,126	0.274 (0.72)	2,116	0.041 (0.65)	0.030 (0.54)	0.037 (0.56)	0.023 (0.53)	0.033 (0.63)	0.075 (0.67)	-0.010 (0.58)	0.069 (0.52)	0.125 (0.55)	0.013 (0.49)
		G/G	1,924	0.164 (0.70)	966	0.268 (0.71)	958	0.059 (0.68)	0.040 (0.54)	0.036 (0.55)	0.043 (0.53)	0.027 (0.60)	0.063 (0.63)	-0.008 (0.57)	0.066 (0.53)	0.130 (0.56)	0.001 (0.49)
P value^b				0.501		0.135		0.634	0.344	0.315	0.767	0.450	0.692	0.167	0.768	0.856	0.746
Effect size (CI 95%)^c				0.007 (-0.014, 0.029)		0.025 (-0.008, 0.057)		-0.006 (-0.032, 0.019)	0.008 (-0.009, 0.025)	0.013 (-0.013, 0.039)	0.003 (-0.018, 0.025)	-0.007 (-0.025, 0.011)	0.006 (-0.024, 0.037)	-0.015 (-0.037, 0.006)	0.002 (-0.013, 0.018)	-0.002 (-0.027, 0.022)	0.002 (-0.008, 0.012)
rs7794745	0.36(T)	A/A	3,499	0.144 (0.70)	1,714	0.251 (0.72)	1,785	0.041 (0.67)	0.023 (0.53)	0.028 (0.54)	0.019 (0.53)	0.022 (0.61)	0.048 (0.63)	-0.004 (0.58)	0.075 (0.53)	0.140 (0.55)	0.013 (0.49)
		T/A	3,947	0.156 (0.70)	2,010	0.269 (0.71)	1,937	0.039 (0.67)	0.028 (0.54)	0.035 (0.56)	0.021 (0.53)	0.046 (0.62)	0.082 (0.66)	0.009 (0.58)	0.058 (0.53)	0.116 (0.56)	-0.001 (0.49)
		T/T	1,110	0.146 (0.70)	556	0.225 (0.73)	554	0.068 (0.65)	0.031 (0.53)	0.020 (0.56)	0.042 (0.51)	0.042 (0.63)	0.067 (0.63)	0.017 (0.62)	0.050 (0.51)	0.111 (0.53)	-0.012 (0.48)
P value^b				0.583		0.169		0.583	0.590	0.563	0.905	0.811	0.547	0.296	0.112	0.210	0.567
Effect size (CI 95%)^c				-0.006 (-0.028, 0.016)		-0.023 (-0.055, 0.010)		0.007 (-0.019, 0.034)	0.005 (-0.012, 0.021)	0.007 (-0.017, 0.031)	0.001 (-0.021, 0.023)	0.002 (-0.014, 0.018)	-0.008 (-0.032, 0.017)	0.012 (-0.01, 0.034)	-0.012 (-0.026, 0.003)	-0.015 (-0.038, 0.008)	-0.003 (-0.013, 0.007)
RELN
rs362691	0.13(C)	C/C	156	0.097 (0.68)	80	0.149 (0.69)	76	0.043 (0.66)	-0.065 (0.52)	-0.111 (0.45)	-0.017 (0.58)	0.097 (0.68)	0.094 (0.56)	0.100 (0.78)	0.087 (0.51)	0.194 (0.53)	-0.025 (0.46)
		C/G	1,823	0.126 (0.69)	874	0.270 (0.69)	949	-0.007 (0.65)	0.019 (0.55)	0.055 (0.57)	-0.015 (0.53)	0.025 (0.63)	0.055 (0.66)	-0.002 (0.60)	0.063 (0.54)	0.114 (0.58)	0.016 (0.49)
		G/G	6,483	0.156 (0.70)	3,270	0.253 (0.72)	3,213	0.058 (0.67)	0.029 (0.53)	0.023 (0.55)	0.036 (0.52)	0.039 (0.61)	0.071 (0.65)	0.006 (0.57)	0.063 (0.52)	0.128 (0.55)	-0.002 (0.49)
P value^b				0.545		0.879		0.288	0.444	0.856	0.115	0.957	0.802	0.521	0.632	0.715	0.646
Effect size (95% CI)^c				-0.010 (-0.041, 0.022)		0.003 (-0.04, 0.047)		-0.026 (-0.073, 0.022)	-0.009 (-0.033, 0.014)	0.003 (-0.029, 0.035)	-0.030 (-0.067, 0.007)	0.001 (-0.023, 0.024)	-0.004 (-0.033, 0.026)	0.014 (-0.029, 0.056)	0.005 (-0.016, 0.026)	0.006 (-0.025, 0.036)	0.008 (-0.026, 0.042)
SHANK3
rs9616915	0.49(T)	C/C	2,170	0.149 (0.71)	1,123	0.263 (0.73)	1,047	0.028 (0.65)	0.039 (0.54)	0.041 (0.56)	0.037 (0.52)	0.020 (0.60)	0.039 (0.62)	0.001 (0.58)	0.060 (0.54)	0.140 (0.55)	-0.025 (0.51)
		C/T	4,182	0.161 (0.70)	2,044	0.266 (0.72)	2,138	0.060 (0.66)	0.037 (0.54)	0.053 (0.55)	0.022 (0.53)	0.039 (0.61)	0.075 (0.64)	0.004 (0.58)	0.057 (0.52)	0.096 (0.54)	0.020 (0.49)
		T/T	2,061	0.120 (0.69)	1,048	0.232 (0.70)	1,013	0.005 (0.66)	-0.010 (0.52)	-0.030 (0.54)	0.011 (0.50)	0.042 (0.63)	0.083 (0.68)	-0.001 (0.57)	0.081 (0.53)	0.169 (0.58)	-0.009 (0.46)
P value^b				0.703		0.870		0.716	0.152	0.068	1.00	0.377	0.308	0.994	0.273	0.266	0.659
Effect size (CI 95%)^c				0.004 (-0.017, 0.025)		0.002 (-0.027, .032)		0.006 (-0.025, 0.037)	-0.012 (-0.028, 0.004)	-0.020 (-0.042, 0.001)	0.001 (-0.025, 0.025)	0.007 (-0.009, 0.023)	0.011 (-0.01, 0.031)	0.001 (-0.028, 0.028)	0.008 (-0.006, 0.022)	0.012 (-0.009, 0.032)	0.005 (-0.017, 0.028)

^aMean values (SD).
^bUncorrected P value.
^cEffect size presented as the regression coefficient (95% CI).
A-TAC: Autism-Tics, ADHD, and Other Co-morbidities inventory.

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