<i>LEPR</i>
            Gene Polymorphism and Plasma Soluble Leptin Receptor Levels are Associated with Polycystic Ovary Syndrome in Han Chinese Women

Tu, Xiaoyu; Yu, Chuanning; Gao, Mingchen; Zhang, Yu; Zhang, Zhaofeng; He, Yang; Yao, Lihua; Du, Jing; Sun, Yun; Sun, Zilong

doi:10.2217/pme-2017-0016

Cited by 11 publications

(4 citation statements)

References 26 publications

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“…() found SNPs in the coding region of the LEPR gene that were strongly correlated with age at onset of puberty in sheep. Moreover, one new study has also shown that polymorphisms of LEPR are correlated with polycystic ovary syndrome in Han Chinese women (Tu et al, ). The multifarious effects of the LEPR mutations on reproductive traits highlight the crucial role of leptin in regulating reproductive efficiency.…”

Section: Discussionmentioning

confidence: 99%

Whole genome sequence analysis to detect signatures of positive selection for high fecundity in sheep

Nosrati

Nanaei

Ghanatsaman

et al. 2018

Reprod Domestic Animals

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ContentsOvulation rate and prolificacy are the most important reproductive traits that have major impact on the efficiency of lamb meat production. Here, we compared the whole genomes of the Romanov sheep, known as one of the high prolific breeds, and four other sheep breeds namely Assaf, Awassi, Cambridge and British du cher, to identify genetic mechanisms underlying prolificacy in sheep. Selection signature analysis revealed 637 and 477 protein-coding genes under positive selection from F ST and nucleotide diversity (Pi) statistics, respectively. Further analysis showed that several candidate genes including LEPR, PDGFRL and KLF5 genes are involved in sheep prolificacy. The identified candidate genes in the selected regions are novel and provide new insights into the genetic mechanisms underlying prolificacy in sheep and can be useful in sheep breeding programmes to develop improved breeds for high reproductive efficiency. K E Y W O R D S comparative genomics, positive selection, reproductive traits, Romanov sheep, whole genome sequence | 359 NOSRATI eT Al.

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Section: Discussionmentioning

confidence: 99%

Whole genome sequence analysis to detect signatures of positive selection for high fecundity in sheep

Nosrati

Nanaei

Ghanatsaman

et al. 2018

Reprod Domestic Animals

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“…A first study including 229 PCOS patients and 150 controls reported a highly significant association of Gln223Arg SNP in the LEPR gene with the development of PCOS ( p < 0.0001) [ 129 ]. A subsequent study on 326 PCOS patients and 283 control individuals reported homozygous genotypes of LEPR SNP Lys109Arg (rs1137100) to be associated with PCOS ( p = 0.012) [ 130 ]. A recent meta-analysis conducted on 33 studies identified a significant association of LEPR rs1137101 polymorphism with the susceptibility to PCOS in a recessive genetic model ( p = 0.002, OR 1.88, 95% CI 1.26–2.78) [ 131 ].…”

Section: Polycystic Ovary Syndromementioning

confidence: 99%

The Complex Roles of Adipokines in Polycystic Ovary Syndrome and Endometriosis

Schüler-Toprak¹,

Ortmann²,

Buechler³

et al. 2022

Biomedicines

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Polycystic ovary syndrome (PCOS) and endometriosis are frequent diseases of the female reproductive tract causing high morbidity as they can significantly affect fertility and quality of life. Adipokines are pleiotropic signaling molecules secreted by white or brown adipose tissues with a central role in energy metabolism. More recently, their involvement in PCOS and endometriosis has been demonstrated. In this review article, we provide an update on the role of adipokines in both diseases and summarize previous findings. We also address the results of multi-omics approaches in adipokine research to examine the role of single nucleotide polymorphisms (SNPs) in genes coding for adipokines and their receptors, the secretome of adipocytes and to identify epigenetic alterations of adipokine genes that might be conferred from mother to child. Finally, we address novel data on the role of brown adipose tissue (BAT), which seems to have notable effects on PCOS. For this review, original research articles on adipokine actions in PCOS and endometriosis are considered, which are listed in the PubMed database.

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“…As shown in Table 5 The association of LEPR gene with pathologies, including obesity [20], diabetes [17,22], pregnancy complications [29,30], cancer [31,32] was investigated in several populations. Few studies on Caucasian and Asian populations examined the association of LEPR genetic variants with PCOS, but with inconclusive findings, and an ethnic contribution to this association was suggested.…”

Section: Resultsmentioning

confidence: 99%

Contrasting association of Leptin receptor polymorphisms and haplotypes with polycystic ovary syndrome in Bahraini and Tunisian women: a case–control study

et al. 2021

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Background. This study examined the contribution of ethnicity to the association of leptin receptor gene (LEPR) genetic variants with polycystic ovary syndrome (PCOS) in Tunisian and Bahraini Arabic-speaking women. Methods. Subjects consisted of 320 women with PCOS, and 446 eumenorrhic women from Tunisia, and 242 women with PCOS and 238 controls from Bahrain. Genotyping of (exonic) rs1137100 and rs1137101 and (intronic) rs2025804 LEPR variants was done by allelic exclusion. Results. The minor allele frequencies of rs1137100 and rs1137101 were significantly different between PCOS cases and control women from Bahrain but not Tunisia, and LEPR rs1137101 was associated with increased PCOS susceptibility only in Bahraini subjects. Furthermore, rs1137100 was associated with decreased PCOS risk among Bahrainis under codominant and recessive models; rs1137100 was negatively associated with PCOS in Tunisians after controlling for testosterone. In addition, rs2025804 was associated with increased PCOS risk among Tunisian but not Bahraini women, after adjusting for key covariates. Negative correlation was seen between rs1137101 and triglycerides in Tunisians, while HOMA-IR and insulin correlated with rs2025804 and rs1137101 among Bahraini subjects, and rs1137101 correlated with estradiol and prolactin. Taking TAG haplotype as common, positive association of TAA and negative association of TGG haplotype with PCOS was seen among Bahraini women; no three-locus PCOS-associated haplotypes were found in Tunisians. Conclusions. This study is the first to demonstrate the contribution of ethnicity to the association of LEPR gene variants with PCOS, thereby highlighting the significance of controlling for ethnicity in gene association investigations.

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LEPR Gene Polymorphism and Plasma Soluble Leptin Receptor Levels are Associated with Polycystic Ovary Syndrome in Han Chinese Women

Cited by 11 publications

References 26 publications

Whole genome sequence analysis to detect signatures of positive selection for high fecundity in sheep

Whole genome sequence analysis to detect signatures of positive selection for high fecundity in sheep

The Complex Roles of Adipokines in Polycystic Ovary Syndrome and Endometriosis

Contrasting association of Leptin receptor polymorphisms and haplotypes with polycystic ovary syndrome in Bahraini and Tunisian women: a case–control study

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