Association of calpain 10 gene UCSNP-43 polymorphism (rs3792267) with polycystic ovarian syndrome

Background: The principle features of polycystic ovarian syndrome (PCOS) are insulin resistance (IR), hyperandrogenism (HA), obesity (Ob), oligo/anovulation and polycystic ovaries (PCO). PCOS is known to be associated with increased risk of type-2 diabetes mellitus (T2DM) and genes related to T2DM may also play a role in PCOS pathogenesis. Our aim is to study the association of CAPN-10 gene UCSNP-43 (rs3792267) polymorphism with PCOS. Methods: Case-control study, involved 204 women with PCOS and 204 healthy, sex and age matched controls. Anthropometric and biochemical profile were taken in a well designed proforma. Isolation of deoxyribonucleic acid (DNA), and genotype analysis was done for all the study population using PCR-RFLP.Results: No significant difference in allele and genotype frequencies of the CAPN-10, UCSNP- 43 (rs3792267) gene polymorphism were seen between the cases and controls. Frequency of A allele was 0.15 in PCOS and 0.19 in controls (OR 0.7207, CI 0.5 to 1.039 and p value 0.0793), indicates that the A allele is not associated with PCOS in our population, and show equal distribution of genotypes in PCOS patients and controls. The AA genotype conferred lack of association for developing PCOS (OR 0.4925, CI 0.1215 to 1.9968 and p value 0.3214). But the AA genotype showed elevated body mass index, waist to hip ratio, insulin resistance, triglyceride levels and decreased high density lipoprotein levels when compared to AG and GG genotypes of PCOS patients with controls.Conclusions: In conclusion, there is no disease risk association of CAPN-10 gene UCSNP-43 (rs3792267) polymorphism with PCOS

Association of insulin-like growth factor 2 Apa1 A820G gene (rs680) polymorphism with polycystic ovarian syndrome

Background: Hyperandrogenism is the cornerstone of polycystic ovarian syndrome (PCOS) as per androgen excess society - 2006 criteria. Insulin-like growth factor 2 (IGF 2) gene stimulates ovarian androgen secretion and is involved in the pathogenesis of PCOS. The objective of this study was to study the association of insulin-like growth factor 2 (IGF2) gene Apa1 A820G (rs680) polymorphism with PCOS.Methods: Prospective genetic case-control study, involving 204 women with PCOS and 204 healthy, sex and age matched controls. Anthropometric and biochemical profile were taken in a well-designed proforma. Isolation of deoxyribonucleic acid (DNA) by salting out method and genotype analysis was done for all the study population using PCR-RFLP.Results: We have demonstrated an association between IGF2 Apa1 A820G gene (rs680) polymorphism and PCOS. Frequency of G allele was 0.40 in PCOS and 0.08 in controls (OR 7.639, CI 5.08 to 11.47, and P value <0.0001) indicates that the G allele is associated with PCOS in our population. The GG genotype conferred a significant risk of developing PCOS (OR 19.645, CI 2.569 to 148.61 and P value 0.0039). We found the significant association of GG genotype with body mass index and insulin resistance in PCOS when compared with controls.Conclusions: This study suggests that IGF 2 gene Apa1 A820G polymorphism is associated with PCOS and could be used as a relevant molecular marker to identify women with risk of developing PCOS in our population and may provide an understanding about the etiology of PCOS

Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome

Background: Polycystic Ovarian Syndrome (PCOS) is the most common cause of female anovulatory infertility, with a prevalence of 6-10% among women of reproductive age, characterized by clinical and / or biochemical androgen excess, ovulatory dysfunction and polycystic ovaries. Sex hormones and hormone receptors play a fundamental role in folliculogenesis. Aim of the study was to study the association of follicle-stimulating hormone receptor (FSHR) Ser680Asn; rs6166 gene polymorphism with PCOS in our study population.Methods: Genetic case-control study, involving 204 women with PCOS and 204 healthy, sex and age matched controls. Anthropometric and biochemical profile were taken in a well-designed proforma. Isolation of deoxyribonucleic acid (DNA) by salting out method and genotype analysis was done for all the study population using Polymerase chain reaction – Restriction fragment length polymorphism (PCR-RFLP).Results: We have demonstrated an association between FSHR gene, Ser680SAsn (rs6166) polymorphism and PCOS. Frequency of A allele was 0.61 in PCOS and 0.44 in controls (OR 1.98, CI 1.5-2.6, and P value <0.0001) indicates that the A allele is associated with PCOS in our study population. The AA genotype conferred a significant risk of developing PCOS (OR 2.069, CI 1.33-3.211 and P value 0.0012). We found significant elevation of body mass index, LH, LH/FSH with AA genotype of PCOS when compared with controls.  The GG genotype showed increased basal FSH levels, insulin resistance in PCOS compared to other genotypes.Conclusions: FSHR Ser680Asn (rs6166) gene polymorphism is associated with PCOS, and can be used as a relevant molecular biomarker to identify risk of PCOS in our population

Biomarkers for the management of pre-eclampsia in pregnant women

Pre-eclampsia (PE) is a pregnancy related disorder characterized by hypertension and proteinuria noticeable after 20 wk of gestation. It is a leading cause of maternal and foetal mortality and morbidity worldwide. The aetiology of the disease is unknown, but recent studies have revealed that this disorder appears to originate in placenta and is characterized by widespread maternal endothelial dysfunction. Till date, delivery of placenta is the only cure for the disease. So, there is a need for the identification of highly specific and sensitive biochemical markers that would allow early identification of patients at risk and thus help in providing proper prenatal care. Several promising biomarkers have been proposed, alone or in combination, that may help in predicting women who are likely to develop PE. Maternal serum concentrations of these biomarkers either increase or decrease in PE during gestation. This review focuses on the various biomarkers available and their utility in predicting pre-eclampsia