|
rs6542095
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Association of rs6542095 at the IL1A locus with 'All' (p = .066) and 'Grade_B' (p = .01) endometriosis is noteworthy because this is the first successful replication in an independent population.
|
26337243 |
2015 |
|
rs1801282
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Association of peroxisome proliferator-activated receptor gamma 2 Pro-12-Ala polymorphism with endometriosis.
|
15136115 |
2004 |
|
rs1805192
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Association of peroxisome proliferator-activated receptor gamma 2 Pro-12-Ala polymorphism with endometriosis.
|
15136115 |
2004 |
|
rs1232898090
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of peroxisome proliferator-activated receptor gamma 2 Pro-12-Ala polymorphism with endometriosis.
|
15136115 |
2004 |
|
rs1222213359
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Association of polymorphisms -1154G/A and -2578C/A in the vascular endothelial growth factor gene with decreased risk of endometriosis in Chinese women.
|
19531502 |
2009 |
|
rs280523
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on these observations, we hypothesized that the TYK2 polymorphisms (rs34536443, rs2304256, rs280523, rs12720270 and rs12720356) might be involved in the pathogenesis of endometriosis and/or infertility.
|
23000200 |
2013 |
|
rs12720270
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on these observations, we hypothesized that the TYK2 polymorphisms (rs34536443, rs2304256, rs280523, rs12720270 and rs12720356) might be involved in the pathogenesis of endometriosis and/or infertility.
|
23000200 |
2013 |
|
rs71361504
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BRCA1 rs71361504 SNP may modify the endometriosis risk in Indian women.
|
25380576 |
2015 |
|
rs743572
|
|
|
0.020 |
GeneticVariation |
BEFREE |
But we failed to find any obvious association of rs743572 genotypes with endometriosis stages and characteristics.T allele of rs743572 polymorphism might act as a risk factor for endometriosis, although it had no effects on the disease stages and basic features.
|
29995789 |
2018 |
|
rs2070074
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Compared with endometriosis cases without the N314D allele, those cases with the allele tended to have more advanced disease and a family history of endometriosis.
|
9238674 |
1996 |
|
rs1445081098
|
|
|
0.020 |
GeneticVariation |
BEFREE |
COMT 158G/A and CYP1B1 432C/G polymorphisms may contribute to the risk of endometriosis and adenomyosis, particularly in Asian populations.
|
24965973 |
2014 |
|
rs1445081098
|
|
|
0.020 |
GeneticVariation |
BEFREE |
COMT 158G/A polymorphism may contribute to the risk of endometriosis and adenomyosis in Chinese, particularly for adenomyosis.
|
30539833 |
2018 |
|
rs2475335
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cross-disease GWAS meta-analysis highlighted 13 distinct loci associated at P ≤ 10<sup>-5</sup> with both endometriosis and endometrial cancer, with one locus (SNP rs2475335) located within PTPRD associated at a genomewide significant level (P = 4.9 × 10<sup>-8</sup> , OR = 1.11, 95% CI = 1.07-1.15).
|
29608257 |
2018 |
|
rs1536309
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CT/CC genotype of miR-146b rs1536309 was associated with the risk of pain symptom of endometriosis.
|
31122533 |
2019 |
|
rs700518
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CYP19 115T>C, 240G>A, and 1531C>T polymorphisms and [TTTA]n tetranucleotide repeat polymorphisms in the CYP19 gene and their haplotypes were not significantly associated with the risk of endometriosis.
|
17687621 |
2007 |
|
rs9340773
|
|
|
0.010 |
GeneticVariation |
BEFREE |
DNA samples from endometriosis lesions and control tissues from the same collectives were also analyzed for the exonic G229A polymorphism.
|
16388018 |
2006 |
|
rs605059
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Evidence for association between the Ser312Gly polymorphism in HSD17B1 and endometriosis was found in a Japanese population.
|
15640252 |
2005 |
|
rs710886
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, a significant genetic effect was observed in both the dominant (AG+GG vs AA) and recessive models (GG vs AG+AA), indicating the presence of an association between the genotype of SNP rs710886 and the risk of endometriosis.
|
31595574 |
2020 |
|
rs13394619
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Fine mapping results identified a number of SNPs showing stronger association (0.004 < P < 0.032) with endometriosis risk than the original GWAS SNP (rs13394619) (P = 0.034).
|
25788566 |
2015 |
|
rs78378222
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36.12 (CDC42/WNT4), 2p25.1 (GREB1), 20p12.3 (MCM8), and 6q26.2 (SYNE1/ESR1).
|
30194396 |
2018 |
|
rs1801516
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36.12 (CDC42/WNT4), 2p25.1 (GREB1), 20p12.3 (MCM8), and 6q26.2 (SYNE1/ESR1).
|
30194396 |
2018 |
|
rs7907606
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36.12 (CDC42/WNT4), 2p25.1 (GREB1), 20p12.3 (MCM8), and 6q26.2 (SYNE1/ESR1).
|
30194396 |
2018 |
|
rs1799750
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For MMP-1 -1607 1G>2G (rs1799750) polymorphism, significant associations were observed both in overall comparison and subgroup analyses based on the stage of endometriosis, ethnicity of each study population and method of genotyping under four genetic models.
|
27620811 |
2016 |
|
rs6166
|
|
|
0.040 |
GeneticVariation |
BEFREE |
For the A/G polymorphism of FSH receptor gene (Asn680Ser), a univariate analysis for women with endometriosis demonstrated that both the GG genotype (680Ser/Ser) and GA genotype (680Ser/Asn) were associated with a significantly lower risk of endometriosis.
|
20817169 |
2011 |
|
rs2237895
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Gene variant (AC/CC) of KCNQ1 rs2237895 showed a slight difference in the endometriosis group compared to the fertile group (p = .049), with the C allele showing a significant association with infertility overall (OR = 1.42 [1.100-1.833]; p < .0069).
|
31579970 |
2019 |