BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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Basic Info

Name	MTHFR A1298C
Type	point mutation
Related Gene	MTHFR
No. of Study	4 (Positive: 3; Negative 1; Trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Variant related studies (count: 4)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Peerbooms, O. L.,2011	A1298C		Meta analysis:Model1, fixed OR(95%CI)=1.78(1.25-2.54), I²%=61.4, random OR(95%CI)=1.85(1.02-3.34);Model2, fixed OR(95%CI)=1.33(1.08-1.64), I²%=0, random OR(95%CI)=1.33(1.08-1.64);Model3, fixed OR(95%CI)=1.95(1.34-2.82), I²%=64, random OR(95%CI)=2.03(1.07-3.86);Model4, fixed OR(95%CI)=1.64(1.13-2.38), I²%=47.6, random OR(95%CI)=1.67(0.98-2.84);Model5, fixed OR(95%CI)=1.32(1.13-1.55), I²%=50.8, random OR(95%CI)=1.32(1.05-1.66)	Diagnosis of BPD was significantly associated with MTHFR A12..... More Diagnosis of BPD was significantly associated with MTHFR A1298C in all five genetic models. Less	Positive
Reif, A.,2005	A1298C		X² test:for Bip, X²=6.25, genotype P-value = 0.044	Significant associations were found in BPD patients.	Positive
Jonsson, E. G., 2008			Controls versus bipolar in Norway group, genotype distribution, X²=0.86 (df=1), P value=0.65, allele distribution, X²=0.74(df=1), P value=0.39.	There were no statistically significant allele or genotype c..... More There were no statistically significant allele or genotype case-control differences. Less	Negative
Kempisty, B., 2007 (a)	A/C		Fisher exact test, P-value = 0.0004, OR (95% CI)=3.768 (1.753-8.103), chi-square P-value = 0.0003 for CC vs AC & AA genotypes in total patients with BDI; Fisher exact test, P-value = 0.0076, OR (95% CI)=0.609 (0.424-0.875), chi-square P-value = 0.0071 for CC & AC vs AA in total patients with BDI; Fisher exact test, P-value = 0.0009, OR (95% CI)=7.293 (2.018-26.355), chi-square P-value = 0.0005 for CC vs AC & AA genotypes in females patients with BDI; Fisher exact test, P-value = 0.0158, OR (95% CI)=0.516 (0.304-0.876), chi-square P-value = 0.0139 for CC & AC vs AA in females patients with BDI; Fisher exact test, P-value = 0.1246, OR (95% CI)=2.286 (0.841-6.209), chi-square P-value = 0.0971 for CC vs AC & AA genotypes in males patients with BDI; Fisher exact test, P-value = 0.2055, OR (95% CI)=0.705 (0.429-1.158), chi-square P-value = 0.1665 for CC & AC vs AA in males patients with BDI; chi-square P-value = 0.7257, OR (95% CI)=0.916 (0.561-1.496) for CC/AC vs CC/AA; P-value = 0.1448, OR (95% CI)=2.278 (0.734-7.065) for CC/CC vs CC/AA; P-value = 0.5796, OR (95% CI)=0.852 (0.483-1.503) for CT/AA vs CC/AA; P-value = 0.0001, OR (95% CI)=3.417 (1.824-6.401) for CT/AC vs CC/AA; P-value = 0.0002, OR (95% CI)=6.833 (2.160-21.623) for CT/CC vs CC/AA; P-value = 0.0116, OR (95% CI)=3.347 (1.256-8.921) for TT/AA vs CC/AA; P-value = 0.1825, OR (95% CI)=2.44 (0.633-9.408) for TT/AC vs CC/AA; P-value = 0.0505, OR (95% CI)= for TT/CC vs CC/AA in BDI patients	The frequency of the 1298C allele was 31% and 21% in the tot..... More The frequency of the 1298C allele was 31% and 21% in the total group of BD patients and controls, respectively. The frequency of homozygous 1298CC genotype was 3.7-fold times higher in the whole group of bipolar patients as compared to the controls, and was 11% and 3% in those groups, respectively. Less	Positive

Overlap with SZ from cross-disorder studies (count: 3)

Reference	Statistical Result	Description	Result Category
Kempisty, B., 2007 (a)	Fisher exact test, P-value = 0.0151, OR (95% CI)=2.694(1.207-6.0130), chi-square P-value = 0.0123 for CC vs AC & AA genotypes in total patients with SZ; Fisher exact test, P-value = 0.1158, OR (95% CI)=0.745(0.518-1.070), chi-square P-value = 0.1107 for CC & AC vs AA in total patients with SZ; Fisher exact test, P-value = 0.1671, OR (95% CI)=2.968(0.724-12.163), chi-square P-value = 0.1144 for CC vs AC & AA genotypes in females patients with SZ; Fisher exact test, P-value = 0.1802, OR (95% CI)=0.687(0.406-1.162), chi-square P-value = 0.1604 for CC & AC vs AA in females patients with SZ; Fisher exact test, P-value = 0.0764, OR (95% CI)=2.654(0.993-7.091), chi-square P-value = 0.0446 for CC vs AC & AA genotypes in males patients with SZ; Fisher exact test, P-value = 0.3724, OR (95% CI)=0.794(0.481-1.314), chi-square P-value = 0.3695 for CC & AC vs AA in males patients with SZ; chi-square P-value = 0.9617, OR (95% CI)=0.988 (0.610-1.602) for CC/AC vs CC/AA; P-value = 0.0423, OR (95% CI)=2.929 (0.998-8.595) for CC/CC vs CC/AA; P-value = 0.7257, OR (95% CI)=1.1 (0.645-1.879) for CT/AA vs CC/AA; P-value = 0.0002, OR (95% CI)=3.221 (1.711-6.067) for CT/AC vs CC/AA; P-value = 0.3475, OR (95% CI)=1.952 (0.473-8.067) for CT/CC vs CC/AA; P-value = 0.0017, OR (95% CI)=4.184 (1.623-10.787) for TT/AA vs CC/AA; P-value = 0.1545, OR (95% CI)=0 for TT/AC vs CC/AA; P-value = 0.0062, OR (95% CI)= for TT/CC vs CC/AA in SZ patients	The results confirm association of SZ with the 1p36.3 MTHFR locus. The frequency of heterozygous 1298CA genotype was higher in patients as compared to controls but was not significantly different. Gender classification of patients did not indicate association of homozygous 1298CC genotype with either schizophrenia in the female nor male patients.	Positive
Peerbooms, O. L.,2011	Meta analysis:Model1, fixed OR(95%CI)=1.08(0.93-1.26), I²%=31.4, random OR(95%CI)=1.12(0.92-1.37);Model2, fixed OR(95%CI)=1.08(0.98-1.19), I²%=61.4, random OR(95%CI)=1.07(0.90-1.26);Model3, fixed OR(95%CI)=1.1(0.93-1.29), I²%=37.6, random OR(95%CI)=1.13(0.91-1.41);Model4, fixed OR(95%CI)=1.12(0.94-1.33), I²%=22.2, random OR(95%CI)=1.16(0.94-1.43);Model5, fixed OR(95%CI)=1.06(0.99-1.15), I²%=61.1, random OR(95%CI)=1.07(0.94-1.21)	Diagnosis of SZ was not significantly associated with MTHFR A1298C.	Negative
Jonsson, E. G., 2008	Controls versus schizophrenia in Denmark group, genotype distribution, X²=0.19 (df=2), P value=0.91, allele distribution, X²=0.13, (df=1), P value=0.71. Controls versus schizoaffective in Denmark group, genotype distribution, X²=2.16 (df=1), P value=0.34, allele distribution, X²=0.02, (df=1), P value=0.89.	There were no statistically significant allele or genotype case-control differences.	Negative

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Statistical Result	Description	Result Category
Reif, A.,2005	X² test:for Md, X²=6.65, genotype P-value = 0.036	Significant associations were found in MD patients.	Positive