Angiotensin-Converting Enzyme (ACE) Insertion/Deletion (I/D) Polymorphism as a Conjoint Regulator of Coagulation, Fibrinolytic, and RAAS Pathway in Infertility and Associated Pregnancy Complications.

Despite the increase in assisted reproductive technologies, the high rates of infertility and pregnancy complications are a major concern to infertility specialists worldwide. Infertility may be attributed to pregnancy complications like thrombophilia, preeclampsia and fibrin-induced recurrent pregnancy loss (RPL). Renin-angiotensin-aldosterone system (RAAS) directly or indirectly causes preeclampsia and thrombophilia through the fibrinolytic pathway that ultimately leads to RPL or infertility. The underlying mechanisms of this interaction are still unclear. The present comprehensive review is intended to demonstrate the role and interaction of RAAS and fibrinolytic pathways in pregnancy complications. How this interaction can induce pregnancy complications, and ultimately infertility, is also discussed in the light of current evidence. This study also presents common markers that link RAAS and fibrinolytic processes in developing thrombophilia, preeclampsia and RPL. The common link in these pathways is ACE gene I/D polymorphism. Apart from ACE, PAI-1, VIIa, XIIa, AT1R, AT1AA, and TF are common molecules that can delineate the underlying causes of pregnancy complications and infertility.

Glutathione S-transferase M1 and T1 null genotype frequency distribution among four tribal populations of western India.

Glutathione S transferase (GST) family is a key contributor in the detoxification mechanism of our body.Deletion of the genes within this family has been reported in the failure of detoxification system, to some extent leading to various types of cancers and other life threatening diseases. The existing data and reports on the association of null genotype of both GSTM1 and GSTT1 genes for various diseases are inconsistent. But knowledge of the polymorphic distributions of genotypes in different populations is important for investigating the risk factors in different epidemiological studies. The present study thus aims to determine thefrequency of GSTM1 and GSTT1 null genotype frequency among four tribal groups, i.e. Mina, Garasia, Damor and Saharia of western India. A comparative analysis with different tribal as well as world population has also been undertaken to have a view of its worldwide frequency distribution. Our results reveal a frequency distribution varying from 22.6% to 66.9% with respect to GSTM1gene polymorphism and from 19.1% to 33.0% with respect to GSTT1 gene in the studied populations. To the best of our knowledge this is the first report on the GSTM1and GSTT1frequency distribution among the tribal population of western India and our study shows that the Mina tribal population has the highest frequency of GSTM1.

Association of angiotensinogen gene SNPs and haplotypes with risk of hypertension in eastern Indian population.

BACKGROUND: Angiotensinogen (AGT) enzyme comprises a vital module of RAAS system that effectively controls the blood pressure and related cardiovascular functions. Ample association studies have reported the importance of AGT variants in cardiovascular and non-cardiovascular adversities. But lately, owing to the complexity of the many anomalies, the haplotype based examination of genetic variation that facilitates the identification of polymorphic sites which are located in the vicinity of the causative polymorphic site, gets greater appreciation. METHODS: In the present study, we have done genotype and haplotype analysis of AGT gene in reference to hypertension to confirm the association of the two in an Indian population. To accomplish this, we performed candidate SNPs analysis and construct possible haplotypes across the AGT promoter and gene region in 414 subjects (256 Hypertensive cases and 158 controls). RESULTS: We found four SNPs (rs11568020: A-152G and rs5050: A-20C in promoter; rs4762 and rs699 in exon2) and 3 haplotypes (H4, H7 and H8) that showed a stronger positive association with hypertension. The haplotype H2 was showing protective association with hypertension. CONCLUSION: The results of the present study confirmed and reestablished the role of AGT gene variants and their haplotypes in the causation of hypertension in Indian population and showed that haplotypes can provide stronger evidence of association.

Age-sex variation and association of 0AB blood groups with haemoglobin level among the adult Dhimals at Naxalbari in West Bengal, India.

The Dhimals at Naxalbari of the Darjeeling district in West Bengal belong to the Indo-Mongoloid ethnic stock. Dhimal is a comparatively less known small community in North Bengal. The mean age (males = 35.93 +/- 1.14 years and females = 32.59 +/- 1.06 years) of both sexes represent the standard adult population (males = 151 and females = 171). The results show that the haemoglobin levels in both the sexes (males: 9.69 gm/dl and females: 8.82 gm/dl) among the adult Dhimals are very low. This is true in all age groups. The females are found to be more anaemic than males in all ages. Significant sex differences (p < 0.001) in this context were recorded in all ages except among the population of 60 years and above. Young adult females of reproductive ages group (20-39 years) are observed to have a less haemoglobin level (8.86 +/- 0.18 gm/dl) compared to a higher level of haemoglobin (9.29 +/- 0.30 gm/dl) found among the females of over 40 years of age. 50.88 % of the females having a mean haemoglobin level of 7.09 +/- 0.08 gm/dl and 67.56% of the males with a mean haemoglobin level of 10.75 +/- 0.08 gm/dl indicate that larger proportions of the adult Dhimal population are suffering from severe anaemia. Repeated malarial parasite infection is the major reason behind this situation. 49.70% of the total sample of both the sexes is recorded to have B blood group. 47.47% of the male and 53.45% of the female sample with blood group B along with moderately higher proportions of the AB blood group (21.78% in males and 20.22% in females) over comparatively much less frequent A and 0 blood groups in both the sexes indicate a high prevalence of B gene in the Dhimal population. The association of higher mean haemoglobin levels (10.21 +/- 0.14 gm/dl for males and 9.54 +/- 0.14 gm/dl for females) among the individuals of both the sexes with B blood groups compared to lower haemoglobin levels with other blood groups especially 0 and A indicate a selection of the B gene in the Dhimal population for survival.