|
rs523349
|
|
|
0.050 |
GeneticVariation |
BEFREE |
This meta-analysis suggested that the V89L polymorphism definitely increases the risk of hypospadias, and the C allele is a genetic risk factor for hypospadias occurrence.
|
28713005 |
2017 |
|
rs523349
|
|
|
0.050 |
GeneticVariation |
BEFREE |
V89L polymorphism of the SRD5A2 gene is a strong determinant of hypospadias risk among children of Indian origin.
|
21511288 |
2011 |
|
rs523349
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias.
|
16174723 |
2005 |
|
rs523349
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Additionally, we performed PCR-RFLP for the two identified polymorphisms and revealed that V89L [OR = 5.8, 95% CI (3.8-8.8), p value < 0.001] and A49T [OR = 10.16, 95% CI (3.94-26.25), p value < 0.001] are significantly associated with hypospadias occurrence in patients.
|
27848231 |
2017 |
|
rs523349
|
|
|
0.050 |
GeneticVariation |
BEFREE |
To investigate the possible associations between common polymorphisms in HSD17B3 as well as well-known V89L polymorphism in SRD5A2 and risk of hypospadias.
|
20059664 |
2010 |
|
rs7063116
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Five SNPs (rs2211122, rs4554617, rs7058226, rs7063116, and rs5915254) in DGKK were significantly associated with hypospadias (P < 0.05), with odds ratios (ORs) of 1.64-1.76.
|
28597849 |
2019 |
|
rs7063116
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Individual genotyping of two SNPs (rs1934179 and rs7063116) in DGKK, encoding diacylglycerol kinase κ, produced compelling evidence for association with hypospadias in the discovery sample (allele-specific odds ratio (OR) = 2.5, P = 2.5 × 10⁻¹¹ and OR = 2.3, P = 2.9 × 10⁻⁹, respectively) and in the Dutch (OR = 3.9, P = 2.4 × 10⁻⁵ and OR = 3.8, P = 3.4 × 10⁻⁵) and Swedish (OR = 2.5, P = 2.6 × 10⁻⁸ and OR = 2.2, P = 2.7 × 10⁻⁶) replication samples.
|
21113153 |
2011 |
|
rs7063116
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Six SNPs (rs1934179, rs4143304, rs9969978, rs1934188, rs7063116 and rs1934190) were significantly associated with mild/moderate hypospadias (ORs >1, P < 0.05), and rs1934179 was significantly associated with severe hypospadias (OR > 1, P < 0.05).
|
25327554 |
2015 |
|
rs1934179
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Individual genotyping of two SNPs (rs1934179 and rs7063116) in DGKK, encoding diacylglycerol kinase κ, produced compelling evidence for association with hypospadias in the discovery sample (allele-specific odds ratio (OR) = 2.5, P = 2.5 × 10⁻¹¹ and OR = 2.3, P = 2.9 × 10⁻⁹, respectively) and in the Dutch (OR = 3.9, P = 2.4 × 10⁻⁵ and OR = 3.8, P = 3.4 × 10⁻⁵) and Swedish (OR = 2.5, P = 2.6 × 10⁻⁸ and OR = 2.2, P = 2.7 × 10⁻⁶) replication samples.
|
21113153 |
2011 |
|
rs1934179
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Six SNPs (rs1934179, rs4143304, rs9969978, rs1934188, rs7063116 and rs1934190) were significantly associated with mild/moderate hypospadias (ORs >1, P < 0.05), and rs1934179 was significantly associated with severe hypospadias (OR > 1, P < 0.05).
|
25327554 |
2015 |
|
rs4919686
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Analysis of the distributions of SNPs in CYP1A1 and CYP17A1 genes showed that the mutant genotype CC (OR = 4.87) of CYP1A1 rs1048943, and mutant genotype CC (OR = 5.82), recessive genotype AC + CC (OR = 2.17) and allele C (OR = 1.77) of CYP17A1 rs4919686 significantly increased the risk of HS.
|
30858503 |
2019 |
|
rs4919686
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population.
|
22648180 |
2012 |
|
rs5000770
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population.
|
22648180 |
2012 |
|
rs5000770
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The effect of single-nucleotide polymorphism rs5000770 (G>A), located within the aryl hydrocarbon receptor nuclear translocator 2 (ARNT2) locus, on individual sensitivity to low-dose BPA was investigated in the HS group.
|
23285176 |
2012 |
|
rs9332967
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias.
|
30550360 |
2019 |
|
rs9332967
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Eight different SRD5A2 mutations were detected in 15 patients with posterior hypospadias (60%, 15/25), including six previously described mutations (p.Q6X, Q71X, p.L20P, p.G203S, p.R227Q, and p.R246Q) and two novel mutations (p.G196R and p.L73Pfs<sup>∗</sup>17).
|
28663096 |
2017 |
|
rs1020397
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population.
|
22648180 |
2012 |
|
rs1037084691
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias.
|
30550360 |
2019 |
|
rs1048943
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analysis of the distributions of SNPs in CYP1A1 and CYP17A1 genes showed that the mutant genotype CC (OR = 4.87) of CYP1A1 rs1048943, and mutant genotype CC (OR = 5.82), recessive genotype AC + CC (OR = 2.17) and allele C (OR = 1.77) of CYP17A1 rs4919686 significantly increased the risk of HS.
|
30858503 |
2019 |
|
rs1057517779
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified heterozygous NR5A1 mutations in 4 cases of ambiguous external genitalia without uterus (12.1%; p.Trp279Arg, pArg39Pro, c.390delG, c140_141insCACG) and a de novo missense mutation in one case with distal hypospadias (3%; p.Arg313Cys).
|
22028768 |
2011 |
|
rs1064794281
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified heterozygous NR5A1 mutations in 4 cases of ambiguous external genitalia without uterus (12.1%; p.Trp279Arg, pArg39Pro, c.390delG, c140_141insCACG) and a de novo missense mutation in one case with distal hypospadias (3%; p.Arg313Cys).
|
22028768 |
2011 |
|
rs11091748
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two DGKK variants rs11091748 and rs12171755 were associated with increased risk of hypospadias in the Polish population.
|
29464676 |
2018 |
|
rs1110061
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians.
|
23154282 |
2012 |
|
rs1110062
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians.
|
23154282 |
2012 |
|
rs118192175
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study demonstrated that <i>RYR1</i> C6487T polymorphism might be associated with an increased risk of congenital hypospadias in Chinese Han children.
|
30027098 |
2018 |