BMC Medical Genetics

Table 1 MTHFD1L Genotyping Results in Triads (Cases, Mother and Fathers) and Controls for CLP and CPO (Isolated) or with Other Defects (Multiple)

From: Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland

DIPrs3832406	Isolated defects						Multiple defects
CLP	Fathers		Mothers		Cases		Fathers		Mothers		Cases		Controls
	n	%	n	%	n	%	n	%	n	%	n	%	n	%
11	162	41.8	187	40.1	209	41.9	174	42.0	203	40.8	231	43.5	419	42.1
12	102	26.3	128	27.5	149	29.9	116	28.0	140	28.1	163	30.7	267	26.8
13	76	19.6	89	19.1	84	16.8	82	19.8	97	19.5	91	17.1	196	19.7
22	18	4.6	24	5.2	18	3.6	18	4.3	24	4.8	18	3.4	40	4.0
23	24	6.2	31	6.7	28	5.6	24	5.8	34	6.8	28	5.3	52	5.2
33	6	1.5	7	1.5	11	2.2	6	1.4	7	1.4	11	2.1	21	2.1
Total	388		466		499		420		505		542		995
CPO	Fathers		Mothers		Cases		Fathers		Mothers		Cases
	n	%	n	%	n	%	n	%	n	%	n	%
11	98	37.3	118	38.1	134	41.7	145	40.8	154	36.9	175	41.0
12	78	29.7	82	26.5	88	27.4	97	27.3	110	26.4	118	27.6
13	60	22.8	69	22.3	62	19.3	77	21.7	99	23.7	86	20.1
22	8	3.0	12	3.9	7	2.2	8	2.3	18	4.3	9	2.1
23	18	6.8	20	6.5	23	7.2	25	7.0	26	6.2	29	6.8
33	1	0.4	9	2.9	7	2.2	3	0.8	10	2.4	10	2.3
Total	263		310		321		355		417		427
SNPrs17080476	Isolated defects						Multiple defects
CLP	Fathers		Mothers		Cases		Fathers		Mothers		Cases		Controls
	n	%	n	%	n	%	n	%	n	%	n	%	n	%
AA	268	68.2	296	63.1	320	63.1	285	67.1	320	62.9	344	62.5	660	65.9
AG	110	28.0	160	34.1	170	33.5	124	29.2	176	34.6	188	34.2	308	30.8
GG	15	3.8	13	2.8	17	3.4	16	3.8	13	2.6	18	3.3	33	3.3
Total	393		469		507		425		509		550		1001
	Isolated defects						Multiple defects
CPO	Fathers		Mothers		Cases		Fathers		Mothers		Cases
	n	%	n	%	n	%	n	%	n	%	n	%
AA	173	65.5	205	65.7	214	65.6	234	65.9	274	65.6	288	66.8
AG	86	32.6	93	29.8	100	30.7	115	32.4	127	30.4	125	29.0
GG	5	1.9	14	4.5	12	3.7	6	1.7	17	4.1	18	4.2
Total	264		312		326		355		418		431

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