Dataset Information

MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia.

ABSTRACT: BACKGROUND:Polycystic 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. METHODS:A 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??30?kg/m2) in obese women with PCOS (OR?=?1.348, p?=?0.002 and OR?=?1.364, p?=?0.002 respectively) in the homozygous state. In addition, we found that the other genotypes for non-obese PCOS group, AG/GG for rs12970134 and CT/TT for rs17782313, are associated with hirsutism, loss of hair, hyperandrogenism and anti-Müllerian hormone in PCOS. CONCLUSIONS:These 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 (

SUBMITTER: Batarfi AA

PROVIDER: S-EPMC6701028 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature

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MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia.

Batarfi Asma A AA Filimban Najlaa N Bajouh Osama S OS Dallol Ashraf A Chaudhary Adeel G AG Bakhashab Sherin S

BMC medical genetics 20190820 1

<h4>Background</h4>Polycystic 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 genotyp ...[more]

PMID: 31429705

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Project description:MC4R represents a key player involved in melanocortin-mediated control of energy balance. Recently identified near MC4R variant rs17782313 (T > C) can serve as a contributing factor for obese phenotype but its association with obesity has never been sought in a sample of the Pakistani population. The role of genetic variants as causal factors varies across populations. Association studies in a specific population can help us to distinguish global from local gene-gene and gene-environment interactions. This is the first study that investigated the association of rs17782313 with obesity and various obesity-linked anthropometric, metabolic, physical, and behavioural traits in Pakistani subjects including 306 OW/OB (overweight and obese) and 300 NW (normal weight) individuals. The comparison of various aforementioned obesity-linked continuous and categorical variables between OW/OB and NW subjects revealed that almost all variables were found significantly aberrant (p < 0.05) in OW/OB subjects as compared to their age- and gender-matched NW controls indicating greater risk of developing various cardio-metabolic disorders. The genotyping of rs17782313 showed significant association of this variant with obesity and obesity-linked anthropometric traits in females suggesting the gender-specific effect of this variant in our population. The minor allele C increased the risk of obesity by 1.55 times (95% CI = 1.1-2.18, p = 0.01) whereas homozygous CC genotype increased the risk by 2.43 times (95% CI = 1.19-4.96, p = 0.015) in females. However, no association of rs17782313 was observed with any of the obesity-linked metabolic, physical, and behavioural traits except random eating timings. In conclusion, the current study significantly contributes to the knowledge of the genetic proneness to obesity in Pakistani females. This could also be helpful for forthcoming meta-analysis studies elucidating which variants are truly associated with the susceptibility to develop an obese phenotype.

Project description:BackgroundDespite the serious maternal and foetal complications associated with iodine deficiency during pregnancy, surveys related to pregnant women in the Kingdom of Saudi Arabia (KSA) are lacking. This study, therefore, measured urine iodine concentrations (UIC) alongside the potential socioeconomic factors contributing towards iodine inadequacy in reproductive age and pregnant Saudi women from the Western province of KSA.MethodsSpot urine samples were collected from 1222 pregnant and 400 age-matched non-pregnant/non-lactating reproductive age women. The socioeconomic characteristics were obtained through a structured questionnaire. The WHO criteria for iodine sufficiency in non-pregnant (100-199 μg/L) and pregnant (150-249 μg/L) women were applied.ResultsThe median UIC in the non-pregnant women (101.64 μg/L; IQR: 69.83-143.55) was at the lowermost WHO recommended cut-off, whereas the pregnant group was iodine deficient (112.99 μg/L; IQR: 81.01-185.57). Moreover, the median UIC was below adequacy across the different trimesters. The use of non-iodised salt significantly increased the risk of iodine deficiency in the non-pregnant (OR = 2.052; 95%CI: 1.118-3.766) and pregnant women (OR = 3.813; 95%CI: 1.992-7.297), whereas taking iodine supplements significantly lowered the risk in both groups (OR = 0.364; 95%CI: 0.172-0.771 and OR = 0.002; 95%CI: 0.001-0.005, respectively). Passive smoking was also an independent risk factor for iodine deficiency in the non-pregnant (OR = 1.818; 95%CI: 1.097-3.014) and pregnant (OR = 1.653; 95%CI: 1.043-2.618) groups. Additionally, BMI correlated independently and significantly with median UIC in the non-pregnant and pregnant populations. However, multiparity (OR = 3.091; 95%CI: 1.707-5.598) and earning below the minimum wage (2.520; 95%CI: 1.038-6.119) significantly increased the risk of iodine deficiency only in the non-pregnant women.ConclusionsThis study is the first to show borderline iodine sufficiency in reproductive age Saudi women from the Western province, whereas mild iodine deficiency was observed in the pregnant population and could represent a serious public health problem. This study also advocates the necessity to establish routine iodine dietary advice services by the health authorities to foster adequate iodine intake in pregnant women to avoid the perilous consequences of iodine deficiency on maternal-foetal health.

Dataset Information

MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia.

Publications

MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia.

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