|
rs1800447
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of double Trp8Arg and Ile15Thr heterozygotes was similar between the fertile (14.5%, n = 200) and infertile (12.6%, n = 95) groups, with the exception of one homozygous mutation (Arg8 and Thr15) from patient with azoospermia.
|
12620433 |
2003 |
|
rs34349826
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of double Trp8Arg and Ile15Thr heterozygotes was similar between the fertile (14.5%, n = 200) and infertile (12.6%, n = 95) groups, with the exception of one homozygous mutation (Arg8 and Thr15) from patient with azoospermia.
|
12620433 |
2003 |
|
rs768767532
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of double Trp8Arg and Ile15Thr heterozygotes was similar between the fertile (14.5%, n = 200) and infertile (12.6%, n = 95) groups, with the exception of one homozygous mutation (Arg8 and Thr15) from patient with azoospermia.
|
12620433 |
2003 |
|
rs121918346
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results show that the T54A polymorphism in DAZL has no major role in Japanese males with azoospermia or oligozoospermia.
|
16123080 |
2005 |
|
rs144848
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results of this study suggested that the polymorphism N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia.
|
16257105 |
2006 |
|
rs1217691063
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Single nucleotide polymorphism C677T in the methylenetetrahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia.
|
16888682 |
2007 |
|
rs25487
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In a selected Chinese population, AA genotype of Arg399Gln appears to contribute to a decreased risk of idiopathic azoospermia, while we have not any evidence of involvement of XRCC1 T-77C and Arg194Trp polymorphisms in idiopathic azoospermia.
|
17968463 |
2007 |
|
rs1799782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a selected Chinese population, AA genotype of Arg399Gln appears to contribute to a decreased risk of idiopathic azoospermia, while we have not any evidence of involvement of XRCC1 T-77C and Arg194Trp polymorphisms in idiopathic azoospermia.
|
17968463 |
2007 |
|
rs2228000
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results suggest that XPC Ala499Val (C>T) polymorphism is correlated with high risk of idiopathic azoospermia in the Han-Chinese population.
|
18067564 |
2009 |
|
rs2228001
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Ala499Val (C>T) and Lys939Gln (A>C) polymorphism of XPC gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism in three groups of infertile men (172 patients of azoospermia, 25 patients of severe oligozoospermia, 55 patients of oligozoospermia) and 228 fertile men.
|
18067564 |
2009 |
|
rs13181
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study was designed to examine whether ERCC1 polymorphisms 3 UTR (C8092A), Asn118Asn (G19007A) and ERCC2 polymorphisms Asp312Asn (G-->A), Lys751Gln (A-->C), which have been reported to contribute to some cancers, are associated with idiopathic azoospermia in the Chinese population.
|
18616887 |
2008 |
|
rs1799793
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study was designed to examine whether ERCC1 polymorphisms 3 UTR (C8092A), Asn118Asn (G19007A) and ERCC2 polymorphisms Asp312Asn (G-->A), Lys751Gln (A-->C), which have been reported to contribute to some cancers, are associated with idiopathic azoospermia in the Chinese population.
|
18616887 |
2008 |
|
rs201438485
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A 46,XY female with complete gonadal dysgenesis carried a p.K320R mutation in the highly conserved NAP domain, and a 46,XY male with idiopathic azoospermia harbored a p.R89H mutation, and this data supports the hypothesis that mutations in TSPYL1 may contribute to anomalies of testicular development/function.
|
19463995 |
2009 |
|
rs2075789
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia.
|
19808033 |
2010 |
|
rs175080
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia.
|
19808033 |
2010 |
|
rs1800477
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Considering the decreased antiapoptotic function of BCL2, these results suggest that the Ala43Thr variant is associated with protection against azoospermia in the Han-Chinese population.
|
20610805 |
2010 |
|
rs2207396
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Compared with those with the GG genotype, patients being heterozygous for the A allele in rs2207396 had a significantly increased risk of azoospermia [odds ratio (OR): 3.8; 95% confidence interval: 1.5-9.5; P=0.008], this OR being even higher in the subgroup treated with alkylating drugs (OR: 8.8; 95% confidence interval: 2.1-36; P=0.004).
|
21430602 |
2011 |
|
rs9340958
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In ERα, markers of one specific haplotype block (rs2207396, rs9340958, rs9340978) were associated with an increased risk of azoospermia.
|
21430602 |
2011 |
|
rs9340978
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In ERα, markers of one specific haplotype block (rs2207396, rs9340958, rs9340978) were associated with an increased risk of azoospermia.
|
21430602 |
2011 |
|
rs2070565
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results indicated that SNP rs2070565, as well as haplotypes AAA and GAA, may be associated with male infertility and suggest that DNMT3L may contribute to azoospermia susceptibility in humans.
|
22116073 |
2012 |
|
rs140756663
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two potentially disease-causing variants were detected in the infertile cohort: one man with azoospermia was found to be heterozygous for the novel TSPYL1 variant c.419C>G (p.Ser140Cys), and the rare substitution c.1098C>A (p.Phe366Leu) was identified in a man with OAT syndrome in the heterozygous state.
|
22137496 |
2012 |
|
rs370116569
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two potentially disease-causing variants were detected in the infertile cohort: one man with azoospermia was found to be heterozygous for the novel TSPYL1 variant c.419C>G (p.Ser140Cys), and the rare substitution c.1098C>A (p.Phe366Leu) was identified in a man with OAT syndrome in the heterozygous state.
|
22137496 |
2012 |
|
rs397507444
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In conclusion, this meta-analysis supports that the MTHFR A1298C polymorphism is capable of causing male infertility susceptibility, especially azoospermia.
|
22175540 |
2012 |
|
rs10842262
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
|
22197933 |
2011 |
|
rs12097821
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
|
22197933 |
2011 |