“Association of MTHFR and MS/MTR gene polymorphisms with congenital heart defects in North Indian population (Jammu and Kashmir): a case–control study encompassing meta-analysis and trial sequential analysis”

Raina, Jyotdeep Kour; Panjaliya, Rakesh Kumar; Dogra, Vikas; Sharma, Sushil; Anupriya; Kumar, Parvinder

doi:10.1186/s12887-022-03227-z

Table 3 Characteristics of the included studies in the meta-analysis

From: “Association of MTHFR and MS/MTR gene polymorphisms with congenital heart defects in North Indian population (Jammu and Kashmir): a case–control study encompassing meta-analysis and trial sequential analysis”

Study	Age Group/Mean age of cases	Mean age of controls	Diagnostic criteria	Source of controls	Country/ Region	Ethnicity	Genotyping Method	Cases				Controls				NOS	HWE
Study	Age Group/Mean age of cases	Mean age of controls	Diagnostic criteria	Source of controls	Country/ Region	Ethnicity	Genotyping Method	CC	CT	TT	Total	CC	CT	TT	Total	NOS	HWE
Junker et al., 2001 [9]	0–16	Age matched	Echocardiography excluding DS or Chromosomal abnormality	HB	Germany	Caucasian	PCR–RFLP	51	42	21	114	129	78	21	228	9	0.0751
Lee et al., 2005 [10]	Children	-	Confirmed CHD patients for cardiac catheterization	HB (cord blood from healthy foetuses)	Taiwan	Asian	DHPLC	110	89	14	213	114	68	13	195	9	0.5128
Li et al., 2005 [11]	Children	Age matched	Registered patients of birth defects confirmed for CHD	HB	China	Asian	PCR–RFLP	30	95	58	183	22	57	24	103	9	0.2766
Shaw et al., 2005 [12]	0–1 year & foetuses with CHD	Age matched	Conotruncal heart cases confirmed by Echocardiography	PB	America	Caucasian	DIRECT SEQUENCING	69	68	16	153	180	202	52	434	9	0.6836
Zhu et al., 2006 [13]	6.2 yrs	8.4 yrs	Confirmed CHD by Echocardiography	PB	China	Asian	PCR–RFLP	3	7	12	22	22	57	24	103	9	0.2766
Zhu et al., 2006 [13]	6.2 yrs	8.4 yrs	Confirmed CHD by Echocardiography	PB	China	Asian	PCR–RFLP	4	15	15	34	22	57	24	103	9	0.2766
van Beynum et al., 2006 [4]	3.4 yrs	9.4 yrs	Echocardiography excluding NTD, cleft palate/lip, detected genetic abnormalities, known syndromes, and Vacterl- association	PB	Caucasian	Caucasian	PCR–RFLP	79	66	20	165	98	104	18	220	8	0.1842
Galdieri et al., 2007 [14]	0–11 yrs	-	Isolated cardiopathies (not associated with genetic syndromes or other malformations) confirmed by echocardiogram or cardiac catheterization	HB	Brazil	Caucasian	DIRECT SEQUENCING	30	21	7	58	18	14	6	38	9	0.2631
van Driel et al., 2008 [15]	16.8 months	16.7 months	Confirmed CHD by echocardiography and/or cardiac catheterization and/or surgery	PB	European	Caucasian	Real time PCR, RFLP	99	103	27	229	119	107	25	251	9	0.8951
Xu et al., 2010 [16]	6.50 yrs	6.69 yrs	Non-syndromic CHD cases confirmed by echocardiography	HB	China	Asian		162	244	96	502	151	261	115	527		0.9115
Kuehl et al., 2010 [17]	Infants before one year of age	Age matched	Confirmed CHD by echocardiography and/or cardiac catheterization and/or surgery	PB	America	Caucasian	DIRECT SEQENCING	12	33	10	55	134	134	32	300	7	0.8611
Oberman-Borst et al., 2011 [18]	17 months	17.3 months	Confirmed CHD by echocardiography and/or cardiac catheterization and/or surgery	PB	Netherlands	Caucasian	DIRECT SEQUENCING	64	66	9	139	92	76	15	183	8	0.9
Kotby et al., 2012 [19]	31.5 months	32.7 months	Conotruncal heart defects excluding syndrome CHD	PB	Egypt	Caucasian	PCR–RFLP	12	14	4	30	20	8	2	30	8	0.3613
Gong et al., 2012 [20]	2.27 yrs	1.58 yrs	Non-syndromic CHD cases confirmed by echocardiography and /or surgery	HB	Chinese Han population	Asian	MALDI-ToF–MS	45	123	76	244	43	72	21	136	8	0.3088
El-Abd et al., 2012 [21]	Neonates	Neonates	Confirmed CHD except congenital heart disease associated with chromosomal anomalies and genetic syndromes, pre-mature infants (< 37 weeks gestation) and maternal diabetes, malabsorption, wasting syndromes, or any condition associated with folate deficiency	HB	Egypt	Caucasian	PCR–RFLP	7	12	7	26	13	5	0	18	9	0.4938
Wang et al., 2013 [22]	-	-	Confirmed CHD by echocardiography	HB	China	Asian	SNaPShot genotyping, sequencing	59	76	25	160	53	100	35	188	9	0.3124
Kocakap et al., 2014 [23]	3.7 yrs	8.7 yrs	Patients w ith echocardiographically proven conotruncal heart defect	HB	Turkey	Caucasian	HRM, PCR–RFLP, Sequencing	40	33	2	75	43	44	8	95	9	0.4841
Chao et al., 2014 [24]	46.7 yrs	50.9yrs	Patients undergoing PDA ligation except patients diagnosed with diseases due to chromosomal defect or those born prematurely	HB	Taiwan	Asian	PCR–RFLP	10	5	2	17	19	12	3	34	8	0.5863
Mohamad et al., 2014 [8]	Paediatric cases	> 21 years	Non-syndromic CHD patients confirmed by echocardiography	PB	Malaysians	Asian	PCR–RFLP	118	32	0	150	131	19	0	150	7	0.4076
Sahiner et al., 2014 [25]	7.63 yrs	-	Non-syndromic CHD patients confirmed by echocardiography	HB	Turkey	Caucasian	PCR–RFLP	69	53	14	136	47	39	7	93	9	0.7791
Li et al., 2015 [26]	-	-	Clinically confirmed CHD patients by echocardiography	HB	China	Asian	DIRECT SEQUENCING	31	78	41	150	59	66	25	150	9	0.3756
Shi et al., 2015 [27]	-	-	Clinically confirmed CHD patients by echocardiography	PB	China	Asian	PCR–RFLP	55	68	30	153	70	101	45	216	8	0.4437
Wang et al., 2016 [28]	1.46 yrs	3.08 yrs	Non-syndromic CHD patients confirmed by echocardiogram or cardiac catheterization	HB	Chinese Han population	Asian	Taq-Man allelic discrimination assay	14	73	60	147	49	84	35	168	9	0.9278
Noori et al., 2017 [29]	4.2 yrs	4.9 yrs	confirmed CHD patients by echocardiography, cardiac catherization and surgical procedures	HB	Iran	Asian	Tetra-ARMS PCR	95	51	7	153	100	46	1	147	9	0.0781
Wang et al., 2018 [30]	-	-	Conotruncal heart defects CHD patients by echocardiography	HB	China	Asian	DIRECT SEQUENCING	8	48	36	92	70	117	50	237	7	0.9316
Present study 2020	23.24 months	59.26 months	Non-syndromic CHD patients confirmed by echocardiography and surgical procedures	HB	Indian	Asian	PCR–RFLP	44	4	2	50	90	9	1	100	8	0.1796

Back to article page

ISSN: 1471-2431

Contact us

Submission enquiries: bmcpediatrics@biomedcentral.com
General enquiries: ORSupport@springernature.com

BMC Pediatrics

Contact us