Variants of the WNT7A gene in Chinese patients with müllerian duct abnormalities

Dang, Yujie; Qin, Yingying; Tang, Rong; Mu, Yuguang; Li, Guangyu; Xia, Mingdi; Chen, Zi‐Jiang

doi:10.1016/j.fertnstert.2011.11.025

Cited by 19 publications

(11 citation statements)

References 31 publications

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“…We failed to replicate the 7 following previously reported variants: rs16826648 [10], c.697G>A [15] and c.483C>T [8] in WNT4; c.342C>T [10] and c.861G>A [8] in WNT7A; c.113C>G [18] in HOXA11; and c.791G>C [25] in LHX1. The remaining 5 variants (rs3749319 [10] and rs3762719 [10] in WNT7A; C.170A>G [17] in HOXA10; rs2070072 [14] in GALT; and c.*158C>T [16] in WNT9B) were detected, but there were no significant differences in the frequencies of these genotypes or alleles between the cases and controls in this Chinese cohort (Table 2). These discrepancies may be due to differences among the study populations assessed and genetic heterogeneity, which has been observed in previous studies, especially in studies of monozygotic twins [26, 27].…”

Section: Discussionmentioning

confidence: 62%

“…Third, interactions of multiple-genes or-factors must be highlighted in a possibly complex disorder, such as MRKH syndrome. Finally and most importantly, the phenotypes of the previously studied cases have not been pure because the studies have included patients with other reproductive tract malformations, such as unicornuate uterus, septate uterus and vaginal septum [10, 11, 13]. MD malformations include a variety of congenital anomalies that result from the incomplete fusion of mesonephric ducts, abnormal formation or arrested development [22].…”

Section: Introductionmentioning

confidence: 99%

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Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han

Wang

et al. 2015

PLoS ONE

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BackgroundMayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare syndrome that is characterized by congenital aplasia of the uterus and the upper portion (2/3) of the vagina. Previous attempts to identify causal mutations of MRKH syndrome have primarily resulted in negative outcomes. We investigated whether these reported variants are associated with MRKH syndrome (types I and II) in a relatively large sample size of Chinese Han patients, and whether any gene-gene epistatic interactions exist among these variants.MethodsThis study included 182 unrelated Chinese women with MRKH syndrome (155 with type I and 27 with type II) and 228 randomized female controls. Seventeen candidate loci in the AMH, PBX1, WNT4, WNT7A, WNT9B, HOXA10, HOXA11, LHXA1 and GALT genes were genotyped using the Sequenom MassARRAY iPLEX platform. Single-marker association, additive effects and multifactor interactions were investigated.ResultsThe gene frequency distributions of MRKH type 1 and type 2 were similar. Rs34072914 in WNT9B was found to be associated with MRKH syndrome (P = 0.024, OR = 2.65, 95%CI = 1.14–6.17). The dominant models of rs34072914 and rs2275558 in WNT9B and PBX1, respectively, were significantly associated with MRKH syndrome risk in the Chinese Han patients. Additive gene-gene interaction analyses indicated a significant synergetic interaction between WNT9B and PBX1 (RERI = 1.397, AP = 0.493, SI = 4.204). Multifactor dimensionality reduction (MDR) analysis revealed novel dimensional epistatic four-gene effects (AMH, PBX1, WNT7A and WNT9B) in MRKH syndrome.ConclusionsThis association study successfully identified two susceptibility SNPs (WNT9B and PBX1) associated with MRKH syndrome risk, both separately and interactively. The discovery of a four-gene epistatic effect (AMH, PBX1, WNT7A and WNT9B) in MRKH syndrome provides novel information for the elucidation of the genetic mechanism underlying the etiology of MRKH syndrome.

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Section: Discussionmentioning

confidence: 62%

Section: Introductionmentioning

confidence: 99%

Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han

Wang

et al. 2015

PLoS ONE

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“…Other candidate genes which have been investigated include PBX1, WNT7A, and LHX1. However, none have been linked with incomplete Müllerian fusion [77][78][79]. Some candidate genetic mutations have been reported in association with incomplete Müllerian fusion, but further research is needed as much is still unknown.…”

Section: Incomplete Müllerian Fusionmentioning

confidence: 99%

Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy

Owen¹,

JH²

2013

J Genet Syndr Gene Ther

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Müllerian and vaginal anomalies are congenital malformations of the female reproductive tract resulting from alterations in the normal developmental pathway of the uterus, cervix, fallopian tubes, and vagina. The most common of the Müllerian anomalies affect the uterus and may adversely impact reproductive outcomes highlighting the importance of gaining understanding of the genetic mechanisms that govern normal and abnormal development of the female reproductive tract. Modern molecular genetics with study of knock out animal models as well as several genetic syndromes featuring abnormalities of the female reproductive tract have identified candidate genes significant to this developmental pathway. Further emphasizing the importance of understanding female reproductive tract development, recent evidence has demonstrated expression of embryologically significant genes in the endometrium of adult mice and humans. This recent work suggests that these genes not only play a role in the proper structural development of the female reproductive tract but also may persist in adults to regulate proper function of the endometrium of the uterus. As endometrial function is critical for successful implantation and pregnancy maintenance, these recent data suggest a target for gene therapy. Future research will be needed to determine if gene therapy may improve reproductive outcomes for patients with demonstrated deficient endometrial expression related to abnormal gene expression.

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“…Apart from the known reasons such as environmental factors, harmful hormones, ionizing radiation, and drug effects, genetic factors may act as the major cause of MDA [4][5][6]. In the recent two decades, a lot of essential candidate genes related to the development of the mullerian duct have been studied, such as the WNT and HOX families, LHX1, and TBX6 [7][8][9][10][11][12][13][14]. However, most of the researches failed to explain the relationship between the genes and MDA.…”

Section: Introductionmentioning

confidence: 99%

Genetic association between PAX2 and mullerian duct anomalies in Han Chinese females

Xing

et al. 2016

J Assist Reprod Genet

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Purpose The study aims to investigate the genetic association between paired box gene 2 (PAX2) and mullerian duct anomalies (MDA) in Chinese Han females. Methods Matrix-assisted laser desorption/ionization time-offlight mass spectrometry (MALDI-TOF MS) was used to identify the genotypes of three tag single nucleotide polymorphisms (SNPs) in PAX2 in 362 MDA cases and 406 controls. Results We found that one tag SNP (rs12266644) of PAX2 was associated with susceptibility to MDA. The genotype distributions of the SNP rs12266644 have a statistically significant difference in the MDA patients and controls with a p value = 0.008. In the dominant model, we also observed that the GT + TT genotype increased the risk for MDA (p = 0.015, OR = 1.637, 95 % CI = 1.096-2.443). Conclusion The polymorphism rs12266644 of PAX2 might be a risk factor for MDA in Chinese Han females.

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Variants of the WNT7A gene in Chinese patients with müllerian duct abnormalities

Cited by 19 publications

References 31 publications

Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han

Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han

Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy

Genetic association between PAX2 and mullerian duct anomalies in Han Chinese females

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