Genomes and Genes
Zi Jiang Chen
- Jiao X, Ke H, Qin Y, Chen Z. Molecular Genetics of Premature Ovarian Insufficiency. Trends Endocrinol Metab. 2018;29:795-807 pubmed publisher..Shedding light on the genetic architecture is important in interpreting pathogenesis of POI, and will facilitate risk prediction for POI. ..
- Gao L, Wu K, Liu Z, Yao X, Yuan S, Tao W, et al. Chromatin Accessibility Landscape in Human Early Embryos and Its Association with Evolution. Cell. 2018;173:248-259.e15 pubmed publisher..In summary, our data provide an evolutionary developmental view for understanding the regulation of gene and transposon expression. ..
- Dang Y, Zhao S, Qin Y, Han T, Li W, Chen Z. MicroRNA-22-3p is down-regulated in the plasma of Han Chinese patients with premature ovarian failure. Fertil Steril. 2015;103:802-7.e1 pubmed publisher..The decreased expression of miR-22-3p in plasma of POF may reflect the diminished ovarian reserve and be a consequence of the pathologic process of POF. ..
- Jiang X, Yan J, Sheng Y, Sun M, Cui L, Chen Z. Low anti-Müllerian hormone concentration is associated with increased risk of embryonic aneuploidy in women of advanced age. Reprod Biomed Online. 2018;37:178-183 pubmed publisher..Maternal diminished ovarian reserve along with oocyte ageing may contribute to impaired chromosomal competence of the embryo. ..
- Xiong W, Wang D, Gao Y, Gao Y, Wang H, Guan J, et al. Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment. Sci China Life Sci. 2015;58:829-38 pubmed publisher..This strategy successfully prevented the transmission of hearing impairment in the newborn, thus providing a valuable experience in reproductive management of similar cases and potentially other monogenic disorders. ..
- Wang H, Chen H, Qin Y, Shi Z, Zhao X, Xu J, et al. Risks associated with premature ovarian failure in Han Chinese women. Reprod Biomed Online. 2015;30:401-7 pubmed publisher..Avoidance of exposure to endocrine disrupters and flavonoids intake should be considered. ..
- Xu Z, Yan L, Liu W, Xu X, Li M, Ding L, et al. Effect of treatment of a previous ectopic pregnancy on in vitro fertilization-intracytoplasmic sperm injection outcomes: a retrospective cohort study. Fertil Steril. 2015;104:1446-51.e1-3 pubmed publisher..Previous EP has no effect on the main IVF-ICSI outcomes. For the treatment of EP, salpingostomy and salpingectomy do not statistically significantly affect ovarian function. ..
- Li Z, Zhu Y, Li H, Jiang W, Liu H, Yan J, et al. Leukaemia inhibitory factor in serum and follicular fluid of women with polycystic ovary syndrome and its correlation with IVF outcome. Reprod Biomed Online. 2018;36:483-489 pubmed publisher..The findings indicate that low LIF concentrations in serum and follicular fluid may contribute to disordered folliculogenesis in PCOS. LIF concentrations in embryo culture medium may predict the outcome of IVF treatment. ..
- Wei D, Shi Y, Li J, Wang Z, Zhang L, Sun Y, et al. Effect of pretreatment with oral contraceptives and progestins on IVF outcomes in women with polycystic ovary syndrome. Hum Reprod. 2017;32:354-361 pubmed publisher..Dr Legro reports receiving consulting fees from Euroscreen, Kindex, Bayer and Millendo Pharmaceuticals and research funding from Ferring. Others report no disclosures. Frefro-PCOS was registered at Clinicaltrials.gov: NCT01841528. ..
- Xu X, Chen X, Zhang X, Liu Y, Wang Z, Wang P, et al. Impaired telomere length and telomerase activity in peripheral blood leukocytes and granulosa cells in patients with biochemical primary ovarian insufficiency. Hum Reprod. 2017;32:201-207 pubmed..The authors have no potential conflict of interest to declare. ..
- Sheng Y, Lu G, Liu J, Liang X, Ma Y, Zhang X, et al. Effect of body mass index on the outcomes of controlled ovarian hyperstimulation in Chinese women with polycystic ovary syndrome: a multicenter, prospective, observational study. J Assist Reprod Genet. 2017;34:61-70 pubmed publisher..Elevated BMI is associated with reduced clinical pregnancy rate but similar ongoing pregnancy rates, suggesting that BMI has little impact on IVF outcomes. ..
- Zhao H, Lv Y, Li L, Chen Z. Genetic Studies on Polycystic Ovary Syndrome. Best Pract Res Clin Obstet Gynaecol. 2016;37:56-65 pubmed publisher..However, the current knowledge of the pathogenesis of PCOS is still in its infancy. Further studies using new technologies such as next-generation sequencing (NGS) shall be useful to understand more causal variants for PCOS. ..
- Zhang B, Wei D, Legro R, Shi Y, Li J, Zhang L, et al. Obstetric complications after frozen versus fresh embryo transfer in women with polycystic ovary syndrome: results from a randomized trial. Fertil Steril. 2018;109:324-329 pubmed publisher..009) than those after fresh embryo transfer. In women with PCOS, frozen embryo transfer resulted in an increased risk of large for gestational age in singleton pregnancy and a higher risk of pre-eclampsia in twin pregnancy. NCT01841528. ..
- Ding L, Gao F, Zhang M, Yan W, Tang R, Zhang C, et al. Higher PDCD4 expression is associated with obesity, insulin resistance, lipid metabolism disorders, and granulosa cell apoptosis in polycystic ovary syndrome. Fertil Steril. 2016;105:1330-1337.e3 pubmed publisher..318). Our study suggests for the first time that higher PDCD4 expression might play an important role in PCOS pathogenesis by affecting obesity, insulin resistance, lipid metabolism disorders, and GC apoptosis. ..
- Saravelos S, Zhang T, Chung J, Sun L, Sun Y, Li T, et al. Monochorionic quadramniotic and triamniotic pregnancies following single embryo transfers: two case reports and a review of the literature. J Assist Reprod Genet. 2016;33:27-32 pubmed publisher..These two cases add to the growing literature of monozygotic multiple pregnancies following ART. ..
- Liu T, Cui Y, Zhao H, Liu H, Zhao S, Gao Y, et al. High levels of testosterone inhibit ovarian follicle development by repressing the FSH signaling pathway. J Huazhong Univ Sci Technolog Med Sci. 2015;35:723-729 pubmed publisher..These findings are an important step in further understanding the pathogenesis of polycystic ovary syndrome. ..
- Ruan Y, Shen L, Zou Y, Qi Z, Yin J, Jiang J, et al. Comparative genome analysis of Prevotella intermedia strain isolated from infected root canal reveals features related to pathogenicity and adaptation. BMC Genomics. 2015;16:122 pubmed publisher..The specific genes of Prevotella intermedia indicate that adhesion, competing with surrounding microbes and horizontal gene transfer are the main drive of the evolution of Prevotella intermedia. ..
- Li H, Xu X, Tong J, Zhang K, Zhang C, Chen Z. Association of TNF-Î± genetic polymorphisms with recurrent pregnancy loss risk: a systematic review and meta-analysis. Reprod Biol Endocrinol. 2016;14:6 pubmed publisher..The current meta-analysis demonstrates that TNF-Î±-308G/A polymorphism in the TNF-Î± gene is associated with susceptibility to RPL. ..
- Wang L, Tu Z, Liu C, Liu H, Kaldis P, Chen Z, et al. Dual roles of TRF1 in tethering telomeres to the nuclear envelope and protecting them from fusion during meiosis. Cell Death Differ. 2018;25:1174-1188 pubmed publisher..Together, our results reveal a novel mechanism of TRF1, Speedy A, and Cdk2 in protecting telomere from fusion in a highly crowded microenvironment during meiosis. ..
- Dang Y, Wang X, Hao Y, Zhang X, Zhao S, Ma J, et al. MicroRNA-379-5p is associate with biochemical premature ovarian insufficiency through PARP1 and XRCC6. Cell Death Dis. 2018;9:106 pubmed publisher..Therefore, our data first uncovered potentially pathogenic miR-379-5p and two novel targets PARP1 and XRCC6 in bPOI, which corroborated the significance of DNA repair for POI, and brought up an epigenetic explanation for the disease. ..
- Yao X, Zhang M, Wang X, Ying W, Hu X, Dai P, et al. Tild-CRISPR Allows for Efficient and Precise Gene Knockin in Mouse and Human Cells. Dev Cell. 2018;45:526-536.e5 pubmed publisher..Importantly, the Tild-CRISPR method also yielded up to 12-fold higher knockin efficiency than HR-based methods in human embryos, making it suitable for studying gene functions in vivo and developing potential gene therapies. ..
- Yang Y, Sun X, Cui L, Sheng Y, Tang R, Wei D, et al. Younger poor ovarian response women achieved better pregnancy results in the first three IVF cycles. Reprod Biomed Online. 2016;32:532-7 pubmed publisher..Extremely low live-birth rates could be anticipated after three unsuccessful cycles; therefore it may not be appropriate to suggest more IVF cycles in POR women. ..
- Wang X, Zhang X, Liu S, Li G, Cui L, Qin Y, et al. Novel mutations in the TP63 gene are potentially associated with MÃ¼llerian duct anomalies. Hum Reprod. 2016;31:2865-2871 pubmed..The authors have no competing interests. ..
- Cui L, Qin Y, Gao X, Lu J, Geng L, Ding L, et al. Antimüllerian hormone: correlation with age and androgenic and metabolic factors in women from birth to postmenopause. Fertil Steril. 2016;105:481-5.e1 pubmed publisher..A positive relationship between androgenic profiles and AMH during adolescence and reproductive years implies a synchronism between androgens and ovarian reserve. ..
- Chen T, Bian Y, Liu X, Zhao S, Wu K, Yan L, et al. A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility. Am J Hum Genet. 2017;101:459-465 pubmed publisher..These results identified a genetic basis for EFS and oocyte degeneration and, moreover, might pave the way for genetic diagnosis of infertile females with this phenotype. ..
- Gu Y, Bian Y, Xu X, Wang X, Zuo C, Meng J, et al. Downregulation of miR-29a/b/c in placenta accreta inhibits apoptosis of implantation site intermediate trophoblast cells by targeting MCL1. Placenta. 2016;48:13-19 pubmed publisher..Our results demonstrate that in placenta accreta, miR-29a/b/c inhibits apoptosis of ISIT cells by targeting MCL1. These findings provide new insights into the pathogenesis of placenta accreta. ..
- Chen X, Mu Y, Li C, Li G, Zhao H, Qin Y, et al. Mutation screening of HOXA7 and HOXA9 genes in Chinese women with MÃ¼llerian duct abnormalities. Reprod Biomed Online. 2014;29:595-9 pubmed publisher..This polymorphism, however, is known to exist in the normal Chinese population. Our results indicated that variants in the HOXA7 and HOXA9 genes were not common in Chinese women with MÃ¼llerian duct abnormalities. ..
- Cui Y, Zhao S, Zhao H, Lv Y, Yu M, Wang Y, et al. Mutational analysis of TOX3 in Chinese Han women with polycystic ovary syndrome. Reprod Biomed Online. 2014;29:752-5 pubmed publisher..No plausible pathogenic mutations were detected. The results suggest that mutations in TOX3 are not common in Chinese Han women with PCOS. ..
- Zhao S, Li G, Dalgleish R, Vujovic S, Jiao X, Li J, et al. Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency. Fertil Steril. 2015;103:548-53.e5 pubmed publisher..Our results suggest that SOHLH1 may be regarded as a new candidate gene for POI. ..
- Tang R, Dang Y, Qin Y, Zou S, Li G, Wang Y, et al. WNT9B in 542 Chinese women with Müllerian duct abnormalities: mutation analysis. Reprod Biomed Online. 2014;28:503-7 pubmed publisher..In the second stage, both novel nonsynonymous variants were detected in MDA cases and controls. The results indicate that mutations in the coding sequence of WNT9B are not responsible for MDA in the Chinese population. ..
- Chen X, Li G, Qin Y, Cui Y, You L, Chen Z. Mutations in HOXA11 are not responsible for Müllerian duct anomalies in Chinese patients. Reprod Biomed Online. 2014;28:739-42 pubmed publisher..774G>A) and one known single-nucleotide polymorphism were identified, both of which were not found in the matched controls. The results suggest that mutations in the coding region of HOXA11 are not common in Chinese women with MDA. ..
- Song G, Yan J, Zhang Q, Li G, Chen Z. Association of tissue inhibitor of metalloproteinase gene polymorphisms and unexplained recurrent spontaneous abortions in Han Chinese couples. Eur J Obstet Gynecol Reprod Biol. 2014;181:84-8 pubmed publisher..No evidence was found for any associations between the TIMP-1,-2,-3, or -4 genes SNPs with URSA in this Han Chinese Han. ..
- Wang J, Li S, Qin Y, Chen Z. Analysis of progesterone receptor membrane component 1 mutation in Han Chinese women with premature ovarian failure. Reprod Biomed Online. 2014;29:640-3 pubmed publisher..It is concluded that coding mutations of PGRMC1 do not seem to be a common cause of the disease in Han Chinese women. Future studies in larger cohorts from other ethnic groups are necessary to establish the role of PGRMC1 in POF. ..
- Liu S, Gao X, Qin Y, Liu W, Huang T, Ma J, et al. Nonsense mutation of EMX2 is potential causative for uterus didelphysis: first molecular explanation for isolated incomplete mÃ¼llerian fusion. Fertil Steril. 2015;103:769-74.e2 pubmed publisher..This reinforced the likelihood that EMX2 contributed to the pathophysiology of IMF. Although it is uncommon (0.19%), EMX2 is the first gene identified that if perturbed may cause isolated IMF. ..
- Song G, Yan J, Li G, Chen Z. Association between KIAA0319L, PXK and JAZF1 gene polymorphisms and unexplained recurrent pregnancy loss in Chinese Han couples. Reprod Biomed Online. 2015;30:275-80 pubmed publisher..Therefore, the rs2176082(C/T) polymorphism of PXK might play a possible role in the development of URPL in Chinese Han women. ..
- Zhao S, Tian Y, Zhang W, Xing X, Li T, Liu H, et al. An association study between USP34 and polycystic ovary syndrome. J Ovarian Res. 2015;8:30 pubmed publisher..042, 95% CI 1.012-1.073; TT vs CC Pâ€‰=â€‰0.037, ORâ€‰=â€‰1.050, 95% CI 1.003-1.100). USP34 gene polymorphisms (rs17008097 and rs17008940) may not be associated with PCOS in the Han Chinese women. ..
- Song X, Sun X, Ma G, Sun Y, Shi Y, Du Y, et al. Family association study between melatonin receptor gene polymorphisms and polycystic ovary syndrome in Han Chinese. Eur J Obstet Gynecol Reprod Biol. 2015;195:108-12 pubmed publisher..5983, p=0.018). This study may provide a basis for further studies of the MTNR gene in the aetiology of PCOS. ..
- Qin Y, Jiao X, Dalgleish R, Vujovic S, Li J, Simpson J, et al. Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure. Fertil Steril. 2014;101:1104-1109.e6 pubmed publisher..Our identification of novel variants in the SOHLH2 gene, in women with POF of both Chinese and Serbian origin, strongly suggests an important role for SOHLH2 in human POF etiology. ..
- Xu X, Qin L, Tian Y, Wang M, Li G, Du Y, et al. Family-based analysis of GGT1 and HNF1A gene polymorphisms in patients with polycystic ovary syndrome. Reprod Biomed Online. 2018;36:115-119 pubmed publisher..067; rs7305618: HNF1A gene, ?2 = 0.013; rs2393791: HNF1A gene, ?2 = 0.031). In conclusion, no significant evidence supported a relationship between genes GGT1 and HNF1A and PCOS in the current family trios. ..