MTHFR 677C > T |
MTHFR 677C > T (TT
homozygotes) with infertility |
255 infertile men and 200 controls, ethnicity
not given, Germany |
Bezold et al.,
2001Bezold G, Lange M and Peter RU (2001) Homozygous
methylenetetrahydrofolate reductase C677T mutation and male infertility. N Engl
J Med 344:1172–1173.
|
MTHFR 677C > T |
no association with infertility |
93 infertile and 105 controls, Italian
Caucasians |
Stuppia et al.,
2003Stuppia L, Gatta V, Scarciolla O, Colosimo A, Guanciali-Franchi P,
Calabrese G and Palka G. (2003) The methylenetethrahydrofolate reductase (MTHFR)
C677T polymorphism and male infertility in Italy. J Endocrinol Invest
26:620–622.
|
MTHFR 677C > T |
no association with subfertility |
113 fertile and 77 subfertile males, Dutch
Caucasians |
Ebisch et al.,
2003Ebisch IMW, Van Heerde WL, Thomas CMG, Van der Put N, Wong WY and
Steegers-Theunissen RPM (2003) C677T methylenetetrahydrofolate reductase
polymorphism interferes with the effects of folic acid and zinc sulfate on sperm
concentration. Fertil Steril 80:1190–1194.
|
20 SNPs in 12 genes related to folate,
homocysteine and B12 metabolism |
no association of folate-related gene
polymorphisms with infertility; PEMT
(phosphatidylethanolamine N-methyltransferase) rs7946 and CD320
(transcobalamin receptor) rs173665 with infertility |
153 infertile men and 184 controls, ethnicity
not given, Sweden |
Murphy et al.,
2011Murphy LE, Mills JL, Molloy AM, Qian C, Carter TC, Strevens H,
Wide-Swensson D, Giwercman A and Levine RJ (2011) Folate and vitamin B12 in
idiopathic male infertility. Asian J Androl 13:856–861.
|
MTHFR 677C > T |
no association with infertility or sperm
counts |
107 infertile men and 25 controls, ethnicity
not given, Spain |
Camprubi et al.,
2013Camprubí C, Pladevall M, Grossmann M, Garrido N, Pons MC and Blanco
JJ (2013) Lack of association of MTHFR rs1801133 polymorphism and CTCFL
mutations with sperm methylation errors in infertile patients. J Assist Reprod
Genet 30:1125–1131.
|
MTHFR 677C > T, 1298A
> C; MTR 2756A > G;
MTRR 66A>G; SHMT1 1420C
> T; MTHFD1 1958G > A;
CBS 844ins68 |
MTHFD1 1958G>Aand
MTR 2756A > G with infertility (without
correction for multiple testing only); MTHFR 677C
> T with azoospermia; |
275 infertile men and 349 controls, Russian
Caucasians |
Weiner et al.,
2014Weiner AS, Boyarskikh UA, Voronina EN, Tupikin AE, Korolkova OV,
Morozov IV and Filipenko ML (2014) Polymorphisms in folate-metabolizing genes
and risk of idiopathic male infertility: a study on a Russian population and a
meta-analysis. Fertil Steril 101:87–94.
|
MTHFR 677C > T, 1298A
> C, 215GA; MTRR 66A > G, 524C
> T; CBS 919G > A
|
no association with reduced sperm counts |
70 azoospermia and 182 oligozoospermia cases,
114 normospermic controls, “French ethnic origin” stated |
Ravel et al.,
2009Ravel C, Chantot-Bastaraud S, Chalmey C, Barreiro L, Aknin-Seifer I,
Pfeffer J, Berthaut I, Mathieu EE, Mandelbaum J, Siffroi JP, et
al. (2009) Lack of association between genetic polymorphisms in
enzymes associated with folate metabolism and unexplained reduced sperm counts.
PLoS One 4:e6540.
|
MTHFR 677C > T, 1298A
> C |
MTHFR 677C > T with
infertility |
373 infertile men + 396 controls, Korean
Asians |
Park et al.,
2005Park JH, Lee HC, Jeong YM, Chung TG, Kim HJ, Kim NK, Lee SH and Lee
S (2005) MTHFR C677T polymorphism associates with unexplained infertile male
factors. J Assist Reprod Genet 22:361–368.
|
MTHFR 677C > T, 1298A
> C; MTR 2756A > G;
MTRR 66A>G |
MTHFR 677C > T and
MTRR 66A>G with infertility;
MTHFR 677C > T and MTR
2756A > G with azoospermia |
360 infertile men and 325 controls, Korean
Asians |
Lee et al., 2006Lee HC, Jeong YM, Lee SH, Cha KY, Song SH, Kim NK, Lee KW and Lee S
(2006) Association study of four polymorphisms in three folate-related enzyme
genes with non-obstructive male infertility. Hum Reprod
21:3162–3170.
|
MTHFR 677C > T |
MTHFR 677C > T with
infertility |
355 infertile and 252 fertile Chinese
Asians |
A et al., 2007 |
MTHFR 677C > T, 1298A
> C, 215GA; MTRR
66A>G,524C>T |
MTHFR 677C > T with
hyperhomocysteinemia; no association with sperm counts |
522 men, mixed ethnic origin, France |
Montjean et al.
2011Montjean D, Benkhalifa M, Dessolle L, Cohen-Bacrie P, Belloc S,
Siffroi JP, Ravel C, Bashamboo A and McElreavey K (2011) Polymorphisms in MTHFR
and MTRR genes associated with blood plasma homocysteine concentration and sperm
counts. Fertil Steril 95:635–640.
|
MTHFR 677C > T, 1298A
> C |
MTHFR 677C > T with
non-obstructive azoospermia and severe oligozoospermia |
156 infertile men and 233 controls, mixed
ethnic origin, Brazil |
Gava et al.,
2011Gava MM, Chagas Ede O, Bianco B, Christofolini DM, Pompeo AC, Glina
and Barbosa CP (2011) Methylenetetrahydrofolate reductase polymorphisms are
related to male infertility in Brazilian men. Genet Test Mol Biomarkers
15:153–157.
|
MTHFR 677C > T, 1298A
> C; DNMT3B 46359C > T |
no association with infertility |
179 infertile and 200 fertile men, India |
Dhillon et al.,
2007Dhillon VS, Shahid M and Husain SA (2007) Associations of MTHFR
DNMT3b 4977 bp deletion in mtDNA and GSTM1 deletion, and aberrant CpG island
hypermethylation of GSTM1 in non-obstructive infertility in Indian men. Mol Hum
Reprod 13:213–222.
|
MTHFR 677C > T |
MTHFR 677C > T with
infertility, also confirmed by meta-analysis of data from available
studies |
522 infertile and 315 controls, India |
Gupta et al.,
2011Gupta N, Gupta S, Dama M, David A, Khanna G, Khanna A and Rajender S
(2011) Strong association of 677C>T substitution in the MTHFR gene with
male infertility - A study on an Indian population and a meta-analysis. PLoS One
6:e22277.
|
MTHFR 677C > T, 1298A
> C; MTRR 66A>G |
MTHFR 677C > T with
infertility |
150 infertile and 150 controls, Arab Jordanian
population |
Mfady et al.,
2014Mfady DS, Sadiq MF, Khabour OF, Fararjeh AS, Abu-Awad A and Khader Y
(2014) Associations of variants in MTHFR and MTRR genes with male infertility in
the Jordanian population. Gene 536:40–44.
|
MTHFR 677C > T |
MTHFR 677C > T with
infertility in Asians, but not I Caucasians |
metaanalysis of previously published data |
Wu et al, 2012Wu W, Shen O, Qin Y, Lu J, Niu X, Zhou Z, Lu C, Xia Y, Wang S and
Wang X (2012) Methylenetetrahydrofolate reductase C677T polymorphism and the
risk of male infertility: A meta-analysis. Int JAndrol
35:18–24.
|
MTHFR 1298A > C |
MTHFR 1298A > C with
infertility and azoospermia (metaanalysis included only one Caucasian
study) |
metaanalysis of previously published data |
Shen et al.,
2012Shen O, Liu R, Wu W, Yu L and Wang X (2012) Association of the
methylenetetrahydrofolate reductase gene A1298C polymorphism with male
infertility: A meta-analysis. Ann Hum Genet 76:25–32.
|
MTHFR 677C > T, 1298A
> C; MTR 2756A > G;
MTRR 66A>G |
no association with infertility |
284 infertile and 352 fertile Polish
Caucasians |
present study |