Association of the  C677T (rs1801133) polymorphism with idiopathic male infertility in a local Pakistani population

Study	Country	Patients	Controls	Patients		Controls		OR	SE	Lower Limit	Upper Limit	p Value
[Refs.]		n	n	C	T (%)	C	T (%)	OR	SE	Lower Limit	Upper Limit	p Value
African
[18]	Egypt	139	90	133	125 (48.45)	126	54 (30.00)	2.19	0.20	1.47	3.28	0.000a A p value of <0.05 was considered to be significant.
[19]	Egypt	107	107	163	51 (23.83)	156	58 (27.10)	0.84	0.22	0.54	1.30	0.438
[20]	Algeria	74	84	95	55 (36.67)	110	58 (35.52)	1.10	0.23	0.69	1.74	0.690
[21]	Morocco	344	690	523	165 (23.98)	988	392 (28.41)	0.80	0.11	0.64	0.98	0.033
Asian
[22]	China	182	53	140	224 (61.54)	58	48 (45.28)	1.93	0.22	1.25	2.99	0.003a A p value of <0.05 was considered to be significant.
[23]	China	355	252	420	290 (40.85)	351	153 (30.36)	1.58	0.12	1.24	2.02	0.000a A p value of <0.05 was considered to be significant.
[24]	China	75	72	92	58 (38.67)	108	36 (25.00)	1.89	0.26	1.15	3.12	0.013a A p value of <0.05 was considered to be significant.
[25]	China	82	133	64	100 (60.98)	133	133 (50.00)	1.56	0.20	1.05	2.32	0.027a A p value of <0.05 was considered to be significant.
[26]	China	131	293	125	139 (52.65)	338	248 (42.32)	1.52	0.15	1.13	2.03	0.005a A p value of <0.05 was considered to be significant.
[27]	China	290	90	216	364 (62.76)	95	85 (47.22)	1.88	0.17	1.34	2.64	0.000a A p value of <0.05 was considered to be significant.
[28]	China	271	180	262	280 (51.66)	149	211 (58.61)	0.75	0.14	0.58	0.99	0.040a A p value of <0.05 was considered to be significant.
[29]	India	151	200	250	52 (17.22)	363	37 (9.25)	2.04	0.23	1.30	3.20	0.002a A p value of <0.05 was considered to be significant.
[30]	India	522	315	872	172 (16.48)	560	70 (11.11)	1.58	0.15	1.17	2.12	0.003a A p value of <0.05 was considered to be significant.
[31]	India	12	20	13	11 (45.83)	37	3 (7.50)	10.44	0.73	2.51	43.37	0.001a A p value of <0.05 was considered to be significant.
[32]	India	637	364	1048	226 (17.74)	627	99 (13.64)	1.37	0.13	1.06	1.76	0.017a A p value of <0.05 was considered to be significant.
[33]	India	206	230	358	54 (13.11)	418	42 (9.13)	1.50	0.22	0.98	2.30	0.062
[34]	India	179	200	239	119 (33.24)	240	160 (40.00)	0.75	0.15	0.55	1.01	0.054
[35]	India	100	100	186	14 (7.00)	181	19 (9.50)	0.72	0.37	0.35	1.47	0.365
[36]	Iran	164	328	196	132 (40.24)	436	220 (33.54)	1.33	0.14	1.01	1.67	0.039a A p value of <0.05 was considered to be significant.
[37]	Iran	118	132	161	75 (31.78)	206	58 (21.97)	1.65	0.20	1.11	2.47	0.014a A p value of <0.05 was considered to be significant.
[38]	Iran	242	255	327	157 (32.44)	386	124 (24.31)	1.49	0.14	1.13	1.97	0.005a A p value of <0.05 was considered to be significant.
[39]	Iran	266	77	402	130 (24.44)	74	80 (51.95)	0.30	0.19	0.21	0.43	0.100
[40]	Iran	300	303	430	170 (28.33)	426	180 (29.70)	0.94	0.13	0.73	1.20	0.600
[41]	Korea	371	396	410	332 (44.73)	490	302 (38.13)	1.31	0.10	1.07	1.61	0.009a A p value of <0.05 was considered to be significant.
[42]	Korea	360	325	411	309 (42.92)	402	248 (38.15)	1.22	0.11	0.98	1.51	0.073
[43]	Korea	85	246	104	66 (38.82)	280	212 (43.09	0.84	0.18	0.59	1.20	0.332
Caucasian
[44]	Brazil	156	233	222	90 (28.85)	387	79 (16.95)	1.99	0.18	1.41	2.80	0.000a A p value of <0.05 was considered to be significant.
[45]	Brazil	133	173	183	83 (68.80)	299	47 (13.85)	2.89	0.21	1.93	4.31	0.000a A p value of <0.05 was considered to be significant.
[46]	Slovenia	100	111	109	91 (45.50)	144	78 (35.14)	1.54	0.20	1.04	2.28	0.030a A p value of <0.05 was considered to be significant.
[47]	Italy	59	46	54	64 (54.24)	57	35 (38.04)	1.93	0.28	1.11	3.36	0.020a A p value of <0.05 was considered to be significant.
[48]	Italy	93	105	111	75 (40.32)	119	91 (43.33)	0.88	0.20	0.59	1.32	0.545
[49]	Turkey	100	50	132	68 (34.00)	80	20 (20.00)	2.06	0.29	1.16	3.65	0.013a A p value of <0.05 was considered to be significant.
[50]	Germany	255	200	321	189 (37.09)	273	127 (31.75)	1.27	0.14	0.96	1.67	0.095
[51]	The Netherlands	77	113	112	42 (27.27)	148	78 (34.51)	0.71	0.23	0.45	1.11	0.137
[52]	Serbia	52	56	68	36 (34.62)	72	40 (35.71)	0.95	0.29	0.54	1.67	0.866
[53]	Poland	284	352	399	169 (29.75)	482	222 (31.53)	0.92	0.12	0.72	1.17	0.494
[54]	Jordan	150	150	197	103 (34.33)	215	85 (28.33)	1.32	0.18	0.97	1.87	0.114
[55]	Sweden	149	182	209	89 (29.87)	261	103 (28.30)	1.08	0.17	0.77	1.51	0.658
[56]	France	250	114	337	163 (32.00)	150	78 (34.21)	0.93	0.17	0.67	1.30	0.668
[57]	Russia	180	301	250	110 (30.56)	421	181 (30.07)	1.02	0.14	0.77	1.36	0.873
[58]	Canada	39	19	58	20 (51.22)	21	17 (44.74)	0.43	0.42	0.19	0.96	0.041a A p value of <0.05 was considered to be significant.

Allele frequencies of the MTHFR C677T mutation in the studied subjects.

Patient Group	Allele	Infertile Men n (%)	Fertile Men n (%)	OR (95% CI)	p Value	AOR (95% CI)	p Value
Azoospermic	CT	90 (78.95)24 (21.05)	404 (92.66)32 (7.34)	13.37 (1.89-5.99)	0.000	12.05 (1.14-3.70)	0.017a A p value of <0.05 was considered to be significant.
Oligospermic	CT	95 (71.97)37 (28.03)	404 (92.66) 32 (7.34)	14.92 (2.91-8.30)	0.000	14.36 (2.52-7.53)	0.000a A p value of <0.05 was considered to be significant.
Asthenozoospermic	CT	64 (72.73)24 (27.27)	404 (92.66)32 (7.34)	13.70 (2.09-6.52)	0.000	13.70 (1.98-6.89)	0.001a A p value of <0.05 was considered to be significant.
Teratozoospermic	CT	41 (70.69)17 (29.31)	404 (92.66)32 (7.34)	15.23 (2.68-10.23)	0.000	13.31 (1.61-6.82)	0.000a A p value of <0.05 was considered to be significant.
OAT	CT	29 (72.50)11 (27.50)	404 (92.66)32 (7.34)	12.39 (1.14-5.03)	0.021	13.33 (1.37-8.07)	0.008a A p value of <0.05 was considered to be significant.
Infertile normospermic	CT	387 (87.56)55 (12.44)	404 (92.66)32 (7.34)	10.90 (0.61-1.32)	0.581	11.77 (1.10-2.85)	0.018a A p value of <0.05 was considered to be significant.
Total infertile subjects	CT	706 (80.78)168 (19.22)	404 (92.66) 32 (7.34)	11.50 (1.10-2.05)	0.012	12.12 (1.38-3.92)	0.016a A p value of <0.05 was considered to be significant.

Genetic distribution of the MTHFR C677T mutation in infertile patients and controls from various other populations.

Study	Country	Patients	Controls	Patients		Controls		OR	SE	Lower Limit	Upper Limit	P Value
[Refs.]		n	n	CC	CT + TT (%)	CC	CT + TT (%)	OR	SE	Lower Limit	Upper Limit	P Value
African
[18]	Egypt	139	90	109	133 (54.96)	144	111 (43.53)	1.58	0.18	1.11	2.26	0.011a A p value of <0.05 was considered to be significant.
[19]	Egypt	107	107	55	84 (60.43)	41	49 (54.44)	1.28	0.27	0.75	2.18	0.370
[20]	Algeria	74	84	31	43 (58.11)	36	48 (57.14)	1.04	0.32	0.55	1.96	0.902
[21]	Morocco	344	690	199	145 (42.15)	351	339 (49.13)	0.75	0.13	0.58	0.98	0.034a A p value of <0.05 was considered to be significant.
Asian
[22]	China	182	53	27	155 (85.16)	15	38 (71.70)	2.27	0.37	1.10	4.67	0.027a A p value of <0.05 was considered to be significant.
[23]	China	355	252	130	225 (63.38)	128	124 (49.21)	1.79	0.17	1.29	2.48	0.001a A p value of <0.05 was considered to be significant.
[24]	China	75	72	27	48 (64.00)	40	32 (44.44)	2.22	0.34	1.15	4.31	0.018a A p value of <0.05 was considered to be significant.
[25]	China	82	133	14	68 (82.93)	36	97 (72.93)	1.80	0.35	0.90	3.60	0.095
[26]	China	131	293	35	97 (73.48)	98	293 (74.94)	0.93	0.23	0.59	1.45	0.741
[27]	China	290	90	39	251 (86.55)	24	66 (73.33)	2.34	0.29	1.32	4.16	0.004a A p value of <0.05 was considered to be significant.
[28]	China	271	180	75	196 (72.32)	32	148 (82.22)	0.57	0.24	0.35	0.90	0.016a A p value of <0.05 was considered to be significant.
[29]	India	151	200	105	46 (30.46)	163	37 (18.50)	1.93	0.25	1.17	3.17	0.010a A p value of <0.05 was considered to be significant.
[30]	India	522	315	378	144 (27.59)	251	64 (20.32)	1.49	0.17	1.07	2.09	0.019a A p value of <0.05 was considered to be significant.
[31]	India	12	20	4	8 (66.67)	18	2 (10.00)	18.00	0.96	2.72	19.23	0.003a A p value of <0.05 was considered to be significant.
[32]	India	637	364	447	190 (29.83)	275	89 (24.45)	1.31	0.15	0.98	1.76	0.068
[33]	India	206	230	158	48 (23.30)	188	42 (18.26)	1.36	0.24	0.85	2.16	0.195
[34]	India	179	200	81	98 (54.75)	70	130 (65.00)	0.65	0.21	0.43	0.99	0.042a A p value of <0.05 was considered to be significant.
[35]	India	100	100	86	14 (14.00)	81	19 (19.00)	0.69	0.38	0.33	1.48	0.342
[36]	Iran	164	328	58	106 (64.63)	144	184 (56.10)	1.43	0.20	0.97	2.11	0.070
[37]	Iran	118	132	51	67 (56.78)	77	55 (41.67)	1.84	0.26	1.11	3.04	0.017a A p value of <0.05 was considered to be significant.
[38]	Iran	242	255	109	133 (54.96)	144	111 (43.53)	1.58	0.18	1.11	2.26	0.011a A p value of <0.05 was considered to be significant.
[39]	Iran	266	77	153	113 (42.48)	33	44 (57.14)	0.55	0.26	0.33	0.92	0.024a A p value of <0.05 was considered to be significant.
[40]	Iran	300	303	161	139 (46.33)	151	152 (50.17)	0.86	0.16	0.62	1.18	0.347
[41]	Korea	371	396	103	268 (72.24)	145	251 (63.38)	1.50	0.16	1.11	2.04	0.009a A p value of <0.05 was considered to be significant.
[42]	Korea	360	325	115	245 (68.06)	118	207 (63.69)	1.21	0.16	0.88	1.67	0.229
[43]	Korea	85	246	30	55 (64.71)	87	159 (64.63)	1.00	0.26	0.60	1.68	0.990
Caucasian
[44]	Brazil	156	233	81	75 (48.08)	167	66 (28.33)	2.34	0.22	1.53	3.58	0.000a A p value of <0.05 was considered to be significant.
[45]	Brazil	133	173	66	67 (50.38)	136	37 (21.39)	3.73	0.25	2.27	6.14	0.000a A p value of <0.05 was considered to be significant.
[46]	Slovenia	100	111	29	71 (71.00)	47	64 (57.66)	1.80	0.29	1.01	3.19	0.045a A p value of <0.05 was considered to be significant.
[47]	Italy	59	46	11	48 (81.36)	18	28 (60.87)	2.81	0.45	1.16	6.78	0.022a A p value of <0.05 was considered to be significant.
[48]	Italy	93	105	37	56 (60.22)	43	62 (59.05)	1.05	0.29	0.59	1.85	0.867
[49]	Turkey	100	50	44	56 (56.00)	30	20 (40.00)	1.91	0.35	0.96	3.81	0.066
[50]	Germany	255	200	114	141 (55.29)	92	108 (54.00)	1.05	0.19	0.73	1.53	0.783
[51]	The Netherlands	77	113	42	35 (45.45)	50	63 (55.75)	0.66	0.30	0.37	1.18	0.164
[52]	Serbia	52	56	22	30 (57.69)	23	33 (58.93)	0.95	0.39	0.44	2.04	0.896
[53]	Poland	284	352	143	256 (64.16)	166	316 (65.56)	0.94	0.14	0.71	1.24	0.665
[54]	Jordan	150	150	67	83 (55.33)	74	76 (50.67)	1.21	0.23	0.77	1.90	0.418
[55]	Sweden	149	182	73	76 (51.01)	94	88 (48.35)	1.11	0.22	0.72	1.72	0.631
[56]	France	250	114	118	132 (52.80)	49	65 (57.02)	0.84	0.23	0.54	1.32	0.454
[57]	Russia	180	301	89	91 (50.56)	153	148 (49.17)	1.06	0.19	0.73	1.53	0.769
[58]	Canada	39	19	22	17 (43.59)	8	11 (57.89)	0.56	0.57	0.19	1.70	0.308

Genotype frequencies of the MTHFR C677T mutation in the studied subjects.

Patient Group	Genotype	Infertile Men n (%)	Fertile Men n (%)	OR (95% CI)	p Value	AOR (95% CI)	p Value
Azoospermic	CCCTTTCT + TT	36 (63.16)18 (31.58)3 (5.26)21 (36.84)	187 (85.78)30 (13.76)1 (0.46)31 (14.22)	13.12 (1.57-6.186)15.58 (1.58-154.06)3.52 (1.82-6.80)	0.0010.0190.000	12.59 (1.27-5.30)13.30 (1.23-33.20)2.12 (1.09-4.15)	0.009a A p value of <0.05 was considered to be significant. 0.033a A p value of <0.05 was considered to be significant. 0.027a A p value of <0.05 was considered to be significant.
Oligospermic	CCCTTTCT + TT	34 (51.52)27 (40.91)5 (7.58)32 (48.48)	187 (85.78)30 (13.76)1 (0.46)31 (14.22)	14.95 (2.62-9.35)27.50 (3.12-242-77)5.58 (3.07-10.49)	0.0000.0030.000	14.33 (2.18-8.59)24.05 (2.54-87.34)5.01 (2.58-9.71)	0.000a A p value of <0.05 was considered to be significant. 0.006a A p value of <0.05 was considered to be significant. 0.000a A p value of <0.05 was considered to be significant.
Asthenozoospermic	CCCTTTCT + TT	22 (50.00)20 (45.45)2 (4.55)22 (50.00)	187 (85.78)30 (13.76)1 (0.46)31 (14.22)	15.67 (2.76-11.62)17.00 (1.48-195.20)6.03 (2.99-12.18)	0.0000.0230.000	15.10 (2.32-11.23)15.93 (1.22-97.81)5.03 (2.35-10.75)	0.000a A p value of <0.05 was considered to be significant. 0.035a A p value of <0.05 was considered to be significant. 0.000a A p value of <0.05 was considered to be significant.
Teratozoospermic	CCCTTTCT + TT	15 (51.72)11 (37.39)3 (10.34)14 (48.28)	187 (85.78)30 (13.76)1 (0.46)31 (14.22)	14.57 (1.92-10.89)37.40 (3.66-381-91)5.63 (2.48-12.80)	0.0000.0020.000	12.90 (1.09-7.76)30.99 (2.91-82.3)3.17 (1.27-7.91)	0.033a A p value of <0.05 was considered to be significant. 0.004a A p value of <0.05 was considered to be significant. 0.014a A p value of <0.05 was considered to be significant.
OAT	CCCTTTCT + TT	10 (50.00)9 (45.00)1 (5.00)10 (50.00)	187 (85.78)30 (13.76)1 (0.46)31 (14.22)	15.61 (2.12-14.94)18.70 (1.09-321.32)6.03 (2.32-15.68)	0.0000.0440.000	14.10 (0.23-13.19)14.68 (0.61-68.20)4.55 (1.46-14.14)	0.018a A p value of <0.05 was considered to be significant. 0.0980.009a A p value of <0.05 was considered to be significant.
Infertile normospermic	CCCTTTCT + TT	168 (76.02)51 (23.08)2 (0.90)53 (23.98)	187 (85.78)30 (13.76)1 (0.46)31 (14.22)	11.89 (1.15-3.12)2.23 (0.20-24.77)1.90 (1.17-3.12)	0.0120.5150.010	11.92 (1.12-3.27)2.48 (0.22-28.28)1.95 (1.17-3.26)	0.017a A p value of <0.05 was considered to be significant. 0.4640.011a A p value of <0.05 was considered to be significant.
Total infertile subjects	CCCTTTCT + TT	285 (65.22)136 (31.12)16 (3.66)152 (34.78)	187 (85.78)30 (13.76)1 (0.46)31 (14.22)	12.97 (1.92-4.60)10.50 (1.38-79.83)3.22 (2.10-4.94)	0.0000.0230.000	11.81 (1.17-2.80)9.24 (1.20-70.92)2.01 (1.31-3.08)	0.008a A p value of <0.05 was considered to be significant. 0.032a A p value of <0.05 was considered to be significant. 0.001a A p value of <0.05 was considered to be significant.

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Association of the MTHFR C677T (rs1801133) polymorphism with idiopathic male infertility in a local Pakistani population

Article Category: Original Article

Published Online: Aug 02, 2016

Page range: 51 - 62

DOI: https://doi.org/10.1515/bjmg-2016-0007

KeywordsMale Infertility, Polymorphism, Reproduction, Sperm disorders

© 2016 Walter de Gruyter GmbH, Berlin/Boston

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Allelic distribution of the MTHFR C677T mutation in infertile patients and controls from various other populations.

Allele frequencies of the MTHFR C677T mutation in the studied subjects.

Genetic distribution of the MTHFR C677T mutation in infertile patients and controls from various other populations.

Genotype frequencies of the MTHFR C677T mutation in the studied subjects.

Keywords
Male Infertility, Polymorphism, Reproduction, Sperm disorders