Association study between variants in <i>LHCGR DENND1A</i> and <i>THADA</i> with preeclampsia risk in Han Chinese populations

Zhang, Yajie; Li, Lei; Wang, Zhen-Jing; Zhang, Xiaojing; Zhao, Han; Zhao, Yan; Wang, Xietong; Li, Changzhong; Wan, Jipeng

doi:10.1080/14767058.2018.1472228

Cited by 7 publications

(3 citation statements)

References 18 publications

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“…The effect of Thada on fertility and ovarian function was the focus of this study. Prior GWAS evidence suggested that the rate of abortion and the number of oocytes retrieved of patients with the THADA rs12478601 CC genotype increased, but the rate of clinical gestation decreased ( 14 , 15 ). In genotype-phenotype correlational analysis, the THADA gene contributed to hyperandrogenism in PCOS.…”

Section: Discussionmentioning

confidence: 99%

Thada Is Dispensable for Female Fertility in Mice

et al. 2022

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Genome-wide association studies (GWAS) have identified THADA as one of the susceptibility genes for polycystic ovary syndrome (PCOS). Single nucleotide polymorphisms (SNPs) in the THADA gene showed significant over-transmission in PCOS and strong correlations with testosterone level. However, there was insufficient evidence to verify the effect of THADA in vivo on female reproductive system. In this study, we investigated the impacts of Thada ablation on ovarian function and reproductive outcomes with knockout (KO) mice. The results showed that the Thada deletion was insufficient to affect ovarian folliculogenesis, steroidogenesis, and female fertility. Additionally, we stressed the mice with high-fat-high-sugar diet (HFHS). In this case, the KO mice still merely had a negligible impact on ovarian function. These findings indicated that Thada deficiency was dispensable for female fertility in mice, which enriched our knowledge about in vivo functions of PCOS susceptibility genes.

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Section: Discussionmentioning

confidence: 99%

Thada Is Dispensable for Female Fertility in Mice

et al. 2022

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“…Therefore, the present pilot study aimed to evaluate the frequency of rs13429458, rs12478601, rs12468394, rs6544661, and rs11891936 polymorphisms in a sample of Colombian women with PCOS, and their association with clinical, endocrine, and metabolic parameters. Taking into account that the SNPs have different levels of genetic variation across different populations worldwide, we selected those variants in the THADA gene, due to their high reported frequency in PCOS association studies [ 13 , 20 , 23 , 30 , 32 , 33 , 34 , 35 ].…”

Section: Introductionmentioning

confidence: 99%

Assessment of THADA gene polymorphisms in a sample of Colombian women with polycystic ovary syndrome: A pilot study

Alarcón-Granados

Moreno-Ortíz²,

Esteban-Pérez³

et al. 2022

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“…Various genetic polymorphisms have been described for PCOS [10], and the association of single nucleotide polymorphisms (SNPs) with the occurrence and development of PCOS has been confirmed. Three SNPs (rs13405728 in LHCGR gene; rs13429458 in THADA gene and rs2479106 in DENND1A gene) have been identified to be genetic variants of PCOS by GWAS in Han Chinese populations [11,12] .…”

Section: Introductionmentioning

confidence: 99%

Association analysis between the tag single nucleotide polymorphisms of DENND1A and the risk of polycystic ovary syndrome in Chinese Han women

et al. 2020

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Background: The DENND1A gene is one of the most important sites associated with polycystic ovary syndrome (PCOS). We attempted to analyze the correlation between five single nucleotide polymorphisms (SNPs) in the DENND1A gene and the development of PCOS. Methods: A total of 346 PCOS patients and 225 normal ovulatory women were involved in the case-control study. Clinical variables and hormones were recorded. According to the Hap Map database, five tagging SNPs (rs2479106, rs2768819, rs2670139, rs2536951 and rs2479102) in the DENND1A gene were identified. The TaqMan probe and the PCR-RFLP (restriction fragment length polymorphism) methods were used for revealing these genotypes. TaqMan Genotype Software was used to analyze the alleles of the five SNPs. Results: Linkage disequilibrium and the gene frequency analysis demonstrated that the CCGGG haplotype might increase the risk of PCOS (P = 0.038, OR = 1.89, 95% CI = 1.027-3.481). Significant differences were found in genotypic and allelic distributions at the rs2536951 and rs2479102 loci between PCOS women and controls (P < 0.001). The LH levels and LH/FSH ratios were higher in PCOS patients than in the control group. A detailed analysis revealed that for the rs2479106 locus, these two values were significantly different in the control subjects who had AA, AG and GG genotypes (P = 0.013 and P = 0.007, respectively), and for the rs2468819 locus, these two values were significantly different among the PCOS patients with AA, AG and GG genotypes (P = 0.013 and 0.002, respectively). Conclusions: The tagging SNPs rs2479106 and rs2468819 in the DENND1A gene are associated with PCOS in the Chinese population, whereas rs2670139, rs2536951 and rs2479102 are not correlated with PCOS in the same population.

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Association study between variants in LHCGR DENND1A and THADA with preeclampsia risk in Han Chinese populations

Abstract: Genetic variants of PCOS (rs13405728 in LHCGR gene; rs13429458 in THADA gene and rs2479106 in DENND1A gene) may not be involved in the development of preeclampsia in Han Chinese women.

Cited by 7 publications

References 18 publications

Thada Is Dispensable for Female Fertility in Mice

Thada Is Dispensable for Female Fertility in Mice

Assessment of THADA gene polymorphisms in a sample of Colombian women with polycystic ovary syndrome: A pilot study

Association analysis between the tag single nucleotide polymorphisms of DENND1A and the risk of polycystic ovary syndrome in Chinese Han women

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