Vitamin D supplementation reduces risk of maternal comorbidities and helps improve neonatal outcomes.

The present study shows that the GT allele of VDBP SNP rs7041, the VDBP allelic combination (GC1F/1F), and GA allele of CYP2R1 SNP rs2060793 in vitamin D deficient women increase the risk of PCOS.

Introduction: Incidence of prostate cancer is rising worldwide. Multiple factors have been suggested for the aetiology of prostate cancer including ethnic, genetic and diet. Vitamin D (calcitriol) has been shown to have role in cell growth and differentiation and its deficiency is implicated as one of the aetiological factors in prostate cancer. Prostatic epithelial cells express Vitamin D Receptor (VDR) as well as 1α-hydroxylase enzyme that are required for the synthesis of calcitriol and its action. Polymorphism in VDR gene has been associated with prostate cancer in some epidemiological studies; but, there is paucity of information in the Indian context. Aim:The present study was aimed to explore the association of VDR gene polymorphism with the development of prostate cancer. Materialsand Methods: Three Single Nucleotide Polymorphisms (SNP) sites viz., FokI, TaqI and ApaI were analysed in 120 cases of prostate cancer which were compared with their 120 healthy first degree relatives and 120 non-related controls in the Department of Biochemistry in collaboration with the Department of Urology.Results: Analysis showed significantly decreased incidence of Tt and Aa genotype in prostate cancer patients as compared to healthy non-relative controls (p=0.016 and 0.043 respectively). As compared to first degree relatives, incidence of Tt genotype is significantly lower in cases (p=0.005). No significant association was found with FokI polymorphism. Conclusion:This study suggests the protective role of heterozygous genotypes of TaqI and ApaI polymorphism against the development of prostate cancer.Pankaj Ramrao Kambale et al.,

Polycystic ovarian syndrome (PCOS), a major cause of infertility, is also strongly associated with insulin resistance. Defects in insulin receptor signaling are considered as one of the major molecular pathogeneses for insulin resistance. To investigate the possible mechanism of this signaling defect at genetic level, single-nucleotide polymorphism (SNP) [His 1085 C/T] at the exon 17 of insulin receptor gene (INSR) was studied in this pilot study. Polymerase chain reaction was performed on leucocytic DNA of women diagnosed with PCOS, selected from the outpatient department of Safdarjung Hospital, New Delhi, using suitable primer to amplify a region on INSR. An equal number of age-matched healthy women were selected as controls. SNP analysis was performed with restriction enzyme length polymorphism technique using Pm II enzyme. Serum insulin level was measured by ELISA kit and HOMA-IR was calculated mathematically. A higher frequency of the CC genotype was observed in PCOS women than in controls. Also, HOMA-IR, a tool for estimating insulin resistance, was significantly high in PCOS women with the CC genotype. C1008T SNP at exon 17 of INSR is associated with insulin resistance in Indian women with PCOS. Presence of CC genotype (C1085T) could be developed as a marker for insulin resistance and metabolic complications in PCOS women.