Observational studyBMC medical genetics2019
MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia.
Observational study in BMC medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- An association between fat mass and obesity-associated (FTO) (rs9939609) and kisspeptin-1 (KISS-1) (rs4889, rs372790354) gene polymorphisms with polycystic ovary syndrome: an updated meta-analysis and power analysis.Journal of assisted reproduction and genetics · 2024Pooled it
- The rs17782313 polymorphism near MC4R gene confers a high risk of obesity and hyperglycemia, while PGC1α rs8192678 polymorphism is weakly correlated with glucometabolic disorder: a systematic review and meta-analysis.Frontiers in endocrinology · 2023Pooled it
- Associations of genetic variants in TCF7L2, MC4R, AGT and ACE genes with cardiometabolic diseases in Black South Africans.BMC medical genomics · 2026Article
- Genetic distribution of selected obesity-related SNVs in theFrontiers in genetics · 2026Article
- Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.medRxiv : the preprint server for health sciences · 2025Article
- POMC neurons control fertility through differential signaling of MC4R in kisspeptin neurons.eLife · 2025Article
- Custom exome panel revealed new mutations in MAPK14 and novel mutation in RUNX2 gene in patients with PCOS.Scientific reports · 2025Article
- The melanocortin receptor genes are linked to and associated with the risk of polycystic ovary syndrome in Italian families.Journal of ovarian research · 2024Article
- Molecular Mechanisms in the Etiology of Polycystic Ovary Syndrome (PCOS): A Multifaceted Hypothesis Towards the Disease with Potential Therapeutics.Indian journal of clinical biochemistry : IJCB · 2024Review
- Genetic Association Between Polycystic Ovary Syndrome and theBiomarker insights · 2024Article
- Polycystic ovary syndrome is linked with the fat mass obesity (FTO) gene variants rs17817449 and rs1421085 in western Saudi Arabia.Bioinformation · 2021Article
- Genetic construction between polycystic ovarian syndrome and type 2 diabetes.Saudi journal of biological sciences · 2020Review
- The MC4R SNPs, their haplotypes and gene-environment interactions on the risk of obesity.Molecular medicine (Cambridge, Mass.) · 2020Article
- Article
- Serum Anti-Müllerian Hormone in the Diagnosis of Polycystic Ovary Syndrome in Association with Clinical Symptoms.Diagnostics (Basel, Switzerland) · 2019Article
- Genotype based Risk Predictors for Polycystic Ovary Syndrome in Western Saudi Arabia.Bioinformation · 2019Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPolycystic ovary syndrome (PCOS) is a common endocrine disorder causing infertility in reproductive-age women. The cause of PCOS is not fully understood but it is thought to be influenced by environmental and genetic factors. Obesity is greatly related to PCOS and its reduction is one of the major aims in treating PCOS. Melanocortin 4 receptor (MC4R) gene polymorphisms were detected to be associated with different levels of obesity. Therefore, we aimed to determine the genotype and allele frequency of MC4R variants rs12970134 (A/G) and rs17782313 (C/T) in PCOS and investigate their association with PCOS and its clinical variables.
methodsA case-control study was conducted on 189 women, consisting of 95 PCOS cases and 94 controls. Genotyping was performed by real-time polymerase chain reaction (PCR) using TaqMan™ Genotyping assays. Quantitative data were presented as (median ± interquartile range (IQR) whereas qualitative data were presented as frequencies. The chi-squared test was used to observe the difference between SNPs within the study groups (PCOS and control subjects). Multinomial logistic regression was used to test the risk of obesity and development of PCOS considering p < 0.05 is statistically significant.
resultsRs12970134 and rs17782313 are significantly associated with body mass index (BMI, kg/m
conclusionsThese findings demonstrate that MC4R single nucleotide polymorphisms, rs12970134 and rs17782313, are correlated with elevated BMI in PCOS but are not causative factors for PCOS among women in the western region of Saudi Arabia. Moreover, the reverse genotypes are associated with major clinical variants in non-obese (< 30 kg/m
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