ArticlePloS one2015
Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Functional Characterization of theGenes · 2026Article
- Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.Biomolecules · 2024Article
- OSR1 disruption contributes to uterine factor infertility via impaired Müllerian duct development and endometrial receptivity.The Journal of clinical investigation · 2023Article
- Article
- Clinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia.International journal of molecular sciences · 2022Article
- Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome.Journal of clinical medicine · 2022Article
- Modeling Endometrium Biology and Disease.Journal of personalized medicine · 2022Review
- Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.Children (Basel, Switzerland) · 2022Review
- rs6426881 in the 3'-UTR of PBX1 is involved in breast and gastric cancers via altering the binding potential of miR-522-3p.Molecular biology reports · 2021Article
- Studying Müllerian duct anomalies - from cataloguing phenotypes to discovering causation.Disease models & mechanisms · 2021Review
- Mechanistic Drivers of Müllerian Duct Development and Differentiation Into the Oviduct.Frontiers in cell and developmental biology · 2021Review
- Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.Orphanet journal of rare diseases · 2020Review
- Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.Fertility and sterility · 2017Article
- The Genetic Landscape of Müllerian Duct Anomalies: A Comprehensive Review.Reproductive medicine and biologyReview
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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