scholarly journals The Role of Genetic Variation in the Lamin A/C Gene in the Etiology of Polycystic Ovary Syndrome

2009 ◽  
Vol 94 (7) ◽  
pp. 2665-2669 ◽  
Author(s):  
Margrit Urbanek ◽  
Geetha Nampiaparampil ◽  
Janine D'Souza ◽  
Elizabeth Sefton ◽  
Christine Ackerman ◽  
...  

Objective: We performed this study to test the hypothesis that variation in the lamin a/c gene (LMNA) contributes to milder phenotypes of insulin resistance, hyperandrogenism, and/or metabolic syndrome associated with polycystic ovary syndrome (PCOS). Research Design and Methods: We resequenced the coding region, flanking intronic, and proximal promoter regions of the lamin a/c gene in 43 women with PCOS with evidence of upper-body obesity (waist circumference >88 cm) and identified 56 variants, two of which were nonsynonymous substitutions (lmna11 exon1 E98D; lmna24 exon 7 R455C). We genotyped 53 single-nucleotide polymorphisms (44 identified through resequencing and nine included to maximize informativeness of the entire gene) in 624 index (PCOS) cases and 544 controls of European ancestry. We tested for association between these variants and PCOS. In a subset of individuals, we also tested for association with metabolic syndrome and quantitative traits (body mass index, waist circumference, total testosterone, dehydroepiandrosterone sulfate, fasting glucose and insulin, low-density lipoprotein, and total triglycerides). Results: After correction for multiple testing, none of the variants showed significant evidence for association with PCOS, the metabolic syndrome, or any of the quantitative traits tested. Conclusions: Whereas these studies cannot exclude the role of genetic variation in the lamin a/c gene in isolated cases of PCOS, we can conclude that common variation in the lamin a/c gene does not contribute to the etiology of PCOS in women of European ancestry.

2009 ◽  
Vol 23 (7) ◽  
pp. 1124-1124
Author(s):  
Margrit Urbanek ◽  
Geetha Nampiaparampil ◽  
Janine D'Souza ◽  
Elizabeth Sefton ◽  
Christine Ackerman ◽  
...  

2021 ◽  
Vol 14 (1) ◽  
pp. 1-6
Author(s):  
Shakeela Ishrat ◽  
Marufa Hossain ◽  
Subrata Kumar Biswas

The objective of this study is to explore how hyperinsulinemia and insulin resistance relate to the clinical, endocrine and metabolic factors in the infertile women with polycystic ovary syndrome. This study was conducted on 121 consecutive infertile women with polycystic ovary syndrome attending the Infertility unit from January 2017 to December 2017. They were divided into two groups: insulin resistant and insulin sensitive. There was significant difference in body mass index and waist circumference between the two groups. Serum lipids were not associated with insulin resistance. Hyperinsulinemia was significantly associated with metabolic syndrome. Reducing body mass index and waist circumference may improve insulin resistance in infertile women with polycystic ovary syndrome. Screening the infertile women with polycystic ovary syndrome for hyperinsulinemia and insulin resistance and subsequent counseling is recommended to address the long-term risks of metabolic syndrome.


2021 ◽  
Vol 20 (4) ◽  
pp. 864-870
Author(s):  
Shakeela Ishrat ◽  
Marufa Hossain

Background: Polycystic ovary syndrome (PCOS) affects 5-10% of reproductive age women and it is a common cause of infertility in young women. Most of the infertile women with PCOS are overweight or obese. Obesity or excess fat aggravates the endocrine and metabolic dysfunction in women with PCOS. Weight management is the first line measure advised to infertile PCOS women who are overweight or obese. The objective of the study was to explore the association of obesity with the clinical, endocrine and metabolic parameters in infertile women with polycystic ovary syndrome in Bangladesh. Methodology: This was a cross sectional study of 126 consecutive infertile women with polycystic ovary syndrome attending the Infertility unit of the Department of Obstetrics and Gynecology at Bangabandhu Sheikh Mujib Medical University from January 2017 to December 2017.Obesity groups were defined by BMI thresholds specific for the South Asian population. Results: The mean body mass index (BMI) was 26.58±3.18 kg/m2and mean waist circumference was 91.07±9.5 cm. There was highly significant association of obesity with waist circumference and fasting insulin. BMI at or above 25kg/m2 was significantly associated with acanthosis nigricans, hyperandrogenemia and hyperinsulinemia, whereas BMI at or more than 23kg/m2 was significantly associated, in addition, with insulin resistance and metabolic syndrome. Conclusion: Obesity is associated with hyperandrogenemia, hyperinsulinemia, insulin resistance and metabolic syndrome in infertile women with polycystic ovary syndrome. Bangladesh Journal of Medical Science Vol.20(4) 2021 p.864-870


2018 ◽  
Vol 2018 ◽  
pp. 1-9 ◽  
Author(s):  
Yan Sun ◽  
Wenxiang Wang ◽  
Qi Shen ◽  
Shengrong Du ◽  
Yiwei Guo ◽  
...  

Although quite a few polycystic ovary syndrome (PCOS) patients suffering from metabolic syndrome (MS) have been reported in previous studies, no reliable and early diagnostic biomarkers for MS in PCOS patients have yet been identified. To identify early and reliable diagnostic biomarkers for MS in Chinese women with PCOS, a total of 401 patients (200 PCOS patients and 201 controls) were enrolled in our present study. All of the subjects were examined for anthropometric (weight, waist circumference, blood pressure, etc.) and biochemical (fasting glucose, serum lipid indices, total testosterone, etc.) parameters. Our results showed that the prevalence of MS in the PCOS patients (20.50%) was 6.8-fold higher (P<0.05) than that in the controls (2.99%). Nearly 71.0% of the PCOS patients had at least one component of MS, of which dyslipidemia was the most prevalent. Furthermore, within the PCOS group, the prevalence of MS increased with increasing age and body mass index (BMI). Logistic analysis indicated that BMI, triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), hypertension, and fasting glucose were significantly associated with the presence of MS in PCOS patients. Analysis of the ability of the potential diagnostic biomarkers to indicate MS in PCOS patients showed that the PPV, NPV, specificity, sensitivity, and Youden’s index for waist circumference (WC) coupled with HDL-C were 59.68%, 97.10%, 84.28%, 90.24%, and 74.52, respectively, and those for WC coupled with TG were 93.33%, 92.35%, 98.74%, 68.29%, and 67.03%, respectively. ROC curve analysis showed that the areas under the ROC curves (AUCs) for WC coupled with HDL-C and for WC coupled with TG were 0.882 and 0.901, respectively. Our present study demonstrates that WC coupled with either HDL-C or TG can be used as a relatively early and reliable diagnostic biomarker for MS in Chinese PCOS patients.


Obesity ◽  
2010 ◽  
Vol 18 (3) ◽  
pp. 593-597 ◽  
Author(s):  
Jee-Young Oh ◽  
Yeon-Ah Sung ◽  
Hye Jin Lee ◽  
Ji Young Oh ◽  
Hye Won Chung ◽  
...  

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