DENND1A gene variants in Bahraini Arab women with polycystic ovary syndrome

Gammoh, Emily; Arekat, Mona R.; Saldhana, F. Lisa; Madan, Samira; Ebrahim, Bashayer H.; Almawi, Wassim Y.

doi:10.1016/j.gene.2015.01.034

Cited by 24 publications

(14 citation statements)

References 19 publications

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“…Shi et al (9) found a correlation between rs10818854 variant allele and elevated PCOS risk in genome-wide association study (GWAS 1), and Cui et al (17), Goodarzi et al (11) and Welt et al (20) also identified an increased risk. Contrary to these results, Shi et al (9) GWAS 2 and Gammoh et al (21) did not detect an association between rs10818854 variant allele and PCOS risk. In addition, in the subgroup analysis by ethnicity, the association between rs10818854 variant allele and PCOS risk was also found in Asians and Caucasians.…”

Section: Discussionmentioning

confidence: 77%

“…Reviewing the past studies about DENND1A-rs2479106 polymorphism and the risk of PCOS, Shi et al (9) and Cui et al (17) found an increased risk for PCOS associated with rs2479106 variant allele, Lerchbaum et al (22) and Eriksen et al (18) identified a decreased risk, and the other studies did not detect an association between rs2479106 variant allele and PCOS risk (20,21,23). In this study, we analyzed the data from eight available case-control studies.…”

Section: Discussionmentioning

confidence: 99%

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Association of DENND1A Gene Polymorphisms with Polycystic Ovary Syndrome: A Meta-Analysis

Bao¹,

Cai²,

Yang³

et al. 2016

Jcrpe

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Objective: The rs2479106 and rs10818854 polymorphisms in the DENND1A gene have been reported to be extensively associated with risk of polycystic ovary syndrome (PCOS). However, the results from these studies remained inconclusive and conflicting. To detect a true association of rs2479106 and rs10818854 polymorphisms with PCOS risk, a single study may be underpowered, particularly for those studies with inadequate sample size. Therefore, we performed a meta-analysis of all available studies to explore this association.Methods: All studies published up to March 2015 on the association were identified by searching electronic databases PubMed, EMBASE, Web of Science, and China National Knowledge Infrastructure. Studies containing available genotype frequencies of those 2 polymorphisms were chosen, and the odds ratios and associated 95% confidence intervals were calculated using fixed- or random- effects models.Results: A total of 8 studies about s2479106 polymorphism (8185 cases and 28675 controls) and 5 studies about rs10818854 polymorphism (6638 cases and 27443 controls) met the inclusion criteria for the meta-analysis. Overall, significant increase of PCOS risk was found between DENND1A-rs10818854 and PCOS susceptibility. In addition, we also found an increased risk of PCOS in rs2479106 allele model, heterozygote variant genetic model, and dominant genetic model.Conclusion: This meta-analysis suggested that rs2479106 and rs10818854 polymorphisms in the DENND1A gene were associated with increased risk of PCOS. To validate the association between these polymorphisms and PCOS susceptibility, further large and well-designed studies are needed.

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Section: Discussionmentioning

confidence: 77%

Section: Discussionmentioning

confidence: 99%

Association of DENND1A Gene Polymorphisms with Polycystic Ovary Syndrome: A Meta-Analysis

Bao¹,

Cai²,

Yang³

et al. 2016

Jcrpe

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“…SNPs of THADA are correlated with type 2 DM . SNPs like rs2479106 located in introns of the DENND1A gene influence DENND1A expression through interacting with upstream and downstream chromosomal regions . It is also reported that the same as PCOS rs2479106 associated with endometrioid adenocarcinoma also encountered with obesity and DM together with endometrial anomalous proliferation .…”

Section: Discussionmentioning

confidence: 99%

Association of Rs13405728, Rs12478601, and Rs2479106 single nucleotide polymorphisms and in vitro fertilization and embryo transfer efficacy in patients with polycystic ovarian syndrome: A case control genome‐wide association study

Xia

Tian

Yin

et al. 2019

The Kaohsiung J of Med Scie

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Polycystic ovary syndrome (PCOS) is a common female endocrine disorder that has a detriment impact on female health. Herein, the study used a case‐control analysis to sought to explore the association of rs13405728, rs12478601, and rs2479106 single nucleotide polymorphisms (SNPs) with in vitro fertilization and embryo transfer (IVF‐ET) efficacy in treating PCOS. A total of 163 PCOS patients (52 cycles) were selected as the PCOS group and 171 patients with tubal factor infertility without PCOS (68 cycles) were selected as the control group. Polymerase chain reaction was used to amplify genome DNA and direct sequencing to detect SNPs. The LHCGR rs13405728, THADA rs12478601, and DENND1A rs2479106 genotypes were subsequently tested. Logistic regression analysis was conducted to analyze the risk factors influencing the occurrence of PCOS as well as those influencing the efficacy of IVF‐ET. rs13405728, rs12478601, and family history of DM were influencing factors for the occurrence of PCOS. The rate of abortion and number of oocytes retrieved of patients with the THADA rs12478601 CC genotype increased but the rate of clinical gestation decreased. Patients with AG + GG genotype of the DENND1A rs2479106 had increased number of oocytes retrieved, rate of abortion and incidence of gestational DM. rs13405728, rs12478601, serum E2 value as well as fertility rate were influencing factors for efficacy of IVF‐ET. It was suggested that the TT genotype of LHCGR rs13405728, CC genotype of THADA rs12478601 and AG + GG genotype of DENND1A rs2479106 had poor outcomes of IVF‐ET in treating PCOS.

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“…This gene has also been identified by other studies. [12][13][14][15] A transmission disequilibrium test examining in 276 Chinese trios families confirmed the association of the THADA variants with PCOS. 16 A recent genotype-phenotype cor-relation study demonstrated that THADA and DENND1A carry risk alleles that are associated with endocrine and metabolic disturbances in PCOS patients of Han Chinese descent.…”

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confidence: 82%

Genome-Wide Association Studies for Polycystic Ovary Syndrome

2016

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Over the past several years, the field of reproductive medicine has witnessed great advances in genome-wide association studies (GWASs) of polycystic ovary syndrome (PCOS), leading to identification of several promising genes involved in hormone action, type 2 diabetes, and cell proliferation. This review summarizes the key findings and discusses their potential implications with regard to genetic mechanisms of PCOS. Limitations of GWAS are evaluated, emphasizing the understanding of the reasons for variability in results between individual studies. Root causes of misinterpretations of GWASs are also addressed. Finally, the impact of GWAS on future directions of multi- and interdisciplinary studies is discussed.

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DENND1A gene variants in Bahraini Arab women with polycystic ovary syndrome

Cited by 24 publications

References 19 publications

Association of DENND1A Gene Polymorphisms with Polycystic Ovary Syndrome: A Meta-Analysis

Association of DENND1A Gene Polymorphisms with Polycystic Ovary Syndrome: A Meta-Analysis

Association of Rs13405728, Rs12478601, and Rs2479106 single nucleotide polymorphisms and in vitro fertilization and embryo transfer efficacy in patients with polycystic ovarian syndrome: A case control genome‐wide association study

Genome-Wide Association Studies for Polycystic Ovary Syndrome

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