scholarly journals No evidence for mutations of the leptin or leptin receptor genes in women with polycystic ovary syndrome

2000 ◽  
Vol 6 (10) ◽  
pp. 873-876 ◽  
Author(s):  
L. Oksanen
2019 ◽  
Vol 75 (1) ◽  
pp. 1-8
Author(s):  
Jialang Liang ◽  
Jiarong Lan ◽  
Min Li ◽  
Fang Wang

Background: Previous studies on associations of leptin receptor (LEPR) and peroxisome proliferator-activated receptor gamma (PPARG) polymorphisms with polycystic ovary syndrome (PCOS) yielded conflicting results. Objectives: In this meta-analysis, we aimed to better analyze the relationship between LEPR/PPARG polymorphisms and PCOS in a larger pooled population. Methods: We performed a systematic search of PubMed, Web of Science, Embase and CNKI. We calculated pooled ORs and 95% CIs to estimate associations between LEPR/PPARG polymorphisms and PCOS. Results: Totally, 33 eligible studies were included. A significant association with susceptibility to PCOS was observed for LEPR rs1137101 polymorphism under recessive genetic model (p = 0.002, OR 1.88, 95% CI 1.26–2.78, I2 = 42%) and for PPARG rs1801282 polymorphism under dominant (p = 0.007, OR 1.20, 95% CI 1.05–1.36, I2 = 49%), overdominant (p = 0.02, OR 0.85, 95% CI 0.74–0.97, I2 = 48%), and allele (p = 0.006, OR 1.18, 95% CI 1.05–1.33, I2 = 47%) genetic models in overall population. Further subgroup analyses by ethnicity revealed that LEPR rs1137101 and PPARG rs3856806 polymorphisms were both significantly associated with susceptibility to PCOS in Asians. No any positive results were detected in overall and subgroup analyses. Conclusions: Our meta-analysis suggested that LEPR rs1137101, PPARG rs1801282, and rs3856806 polymorphisms were all significantly associated with individual susceptibility to PCOS in certain populations.


2020 ◽  
Author(s):  
Meriem Dallel ◽  
Zeineb Douma ◽  
Ramzi R. Finan ◽  
Feten Hachani ◽  
Dhafer B. Letaifa ◽  
...  

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.


2017 ◽  
Vol 14 (4) ◽  
pp. 299-307 ◽  
Author(s):  
Xiaoyu Tu ◽  
Chuanning Yu ◽  
Minzhi Gao ◽  
Yu Zhang ◽  
Zhaofeng Zhang ◽  
...  

2002 ◽  
Vol 78 (6) ◽  
pp. 1334-1335 ◽  
Author(s):  
Cemal Tamer Erel ◽  
Naci Cine ◽  
Koray Elter ◽  
Semih Kaleli ◽  
Levent Mehmet Senturk ◽  
...  

Gene ◽  
2013 ◽  
Vol 527 (1) ◽  
pp. 71-74 ◽  
Author(s):  
Lan Li ◽  
Kyung-Ju Lee ◽  
Bum-Chae Choi ◽  
Kwang-Hyun Baek

2006 ◽  
Vol 154 (2) ◽  
pp. 287-294 ◽  
Author(s):  
Susanne Hahn ◽  
Uwe Haselhorst ◽  
Beate Quadbeck ◽  
Susanne Tan ◽  
Rainer Kimmig ◽  
...  

Objective: Polycystic ovary syndrome (PCOS) is associated with insulin resistance and a high incidence of obesity. Leptin, the product of the ob gene, is involved in the regulation of energy balance and obesity and circulates in both free and bound forms. The soluble leptin receptor (sOB-R) is the most important leptin-binding protein, thus influencing the biologically active free leptin level. Design: We assessed the correlation of metabolic and endocrine parameters with leptin and sOB-R levels in 122 PCOS women (aged 27 ± 5.7 years) and 81 healthy controls (aged 25 ± 4.0 years). Methods: Leptin and sOB-R levels were measured using ELISA kits. In addition, anthropometric variables, body fat and endocrine parameters were evaluated and a glucose tolerance test performed to assess indices of insulin resistance and glucose metabolism. Results: In PCOS patients, no correlation was found between leptin or sOB-R and parameters of hyper-androgenism. However, as expected, body mass index (BMI), body fat, waist circumference and indices of insulin resistance were significantly correlated with leptin in PCOS subjects and controls. In a subgroup analysis of lean, overweight and obese PCOS patients, significant differences were found in leptin (29.7 ± 20.7 vs 45.4 ± 25.0 vs 67.7 ± 28.8 ng/ml, P < 0.0001) and sOB-R (8.0 ± 3.4 vs 6.4 ± 2.5 vs 5.7 ± 2.3 ng/ml, P < 0.05). Compared with BMI-matched controls, lean PCOS patients had lower sOB-R levels (8.0 ± 3.4 vs 12.7 ± 4.7 ng/ml, P < 0.0001) and higher free leptin indices (4.5 ± 3.9 vs 2.8 ± 2.2, P = 0.0285). Conclusion: Taking into account that low sOB-R levels supposedly compensate diminished leptin action, PCOS per se might cause leptin resistance.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Alexandra Cara ◽  
Laura Lynn Burger ◽  
Martin Grosvenor Myers ◽  
Karel De Gendt ◽  
Sue Moenter ◽  
...  

Abstract Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women of reproductive age, and is characterized by hyperandrogenism, oligo/anovulation, and/or polycystic ovaries. Many women with PCOS also suffer from adverse metabolic phenotypes, including central adiposity, insulin resistance, and glucose intolerance, which can exacerbate reproductive dysfunction. Androgens can act upon androgen receptors (AR), which are expressed in many reproductive and metabolic tissues, and contribute to the pathogenesis of PCOS. AR are highly expressed in the neuroendocrine hypothalamus in areas which regulate the hypothalamic-pituitary-gonadal axis and contribute to the central regulation of metabolism. Many phenotypes of PCOS can be modelled in rodents by administration of the non-aromatizable androgen dihydrotestosterone (DHT) during critical periods of development. Neuronal AR is key in the development of PCOS, as female mice with neuronal AR deletion who are exposed to androgen excess are protected against development of anovulation, polycystic ovaries, and metabolic abnormalities. Yet it is not known which populations of neurons confers this protection. We hypothesize that leptin-receptor (LepR) neurons participate in the pathogenesis of PCOS, as sub-populations of LepR neurons co-express AR in the hypothalamus, and LepR neurons are critical in the central regulation of energy homeostasis, and exert permissive actions on puberty and fertility. We have pre-natally androgenized (PNA) a mouse model of AR deletion specifically in LepR cells (LepRΔAR) and are conducting reproductive and metabolic phenotyping. As previously demonstrated, control PNA females show long periods of acyclicity, whereas LepRΔAR PNA female mice show a similar number of days in each stage of the estrous cycle, number of cycles, and cycle length as vehicle treated LepRΔAR females. Our findings indicate that a subpopulation of AR/LepR cells mediate the effects of prenatal androgen excess on female estrous cycles in a mouse model of PCOS-like phenotype.


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