Background: Coronary artery disease (CAD) is a complex disease resulting from the cumulative and interactive effects of large number of genes along with environmental exposure. Therefore, the present study was envisaged as an effort to study the association of candidate genes ESR1 (rs2234693 and rs9340799), CETP (rs708272), MTHFR (rs1801133 and rs2274976) and MS (rs185087) polymorphisms with the risk of CAD, targeting the populations of Jammu (JandK). Method: A total of 400 confirmed CAD patients and 400 healthy controls were enrolled for the present study. Genotyping was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: ESR1 gene (rs9340799) polymorphism was found to be associated with CAD in all the genetic models. The haplotype analysis of ESR1 (rs2234693 and rs9340799) gene revealed that C-G haplotype was conferring approximately 5-fold risk and T-A haplotype was adding 1.4-fold risk towards the disease. 'T' allele of MTHFR rs1801133 SNP was observed to be responsible for development of CAD in our study population (p < 0.0001). In case of MTHFR (rs1801133 and rs2274976) gene, the haplotype T-G was observed to confer 4.7-fold risk towards CAD whereas haplotype C-G provided nearly a 1.7 fold protection towards development of CAD. For MS gene, rs185087 was also found to be associated with CAD in a co-dominant (p = 0.003 and p = 0.03), dominant (p = 0.001) and allelic models (p = 0.001). The gene-gene interaction revealed strong epistasis between single nucleotide polymorphisms (SNPs), ESR1 rs9340799 and MTHFR rs2274976. Furthermore, the dendrogram for gene-environment dataset indicated moderately synergistic interaction between CETP rs708272 and physical inactivity. Conclusion: In the study under reference, a significant association of ESR1-XbaI (rs9340799), MTHFR C677T (rs1801133) and MS A2756G (rs185087) gene polymorphisms with the susceptibility of CAD in the population of Jammu region (JandK) has been observed.

The present study reveals significant differences in nongenetic variables among patients and control as well as association of gene polymorphisms with CVD risk.

Disturbance in vascular functioning pathways has been related to pathophysiology of migraine. The present study investigated the role of MTHFR C677T and ACE I/D gene polymorphisms in migraine susceptibility within the population of Jammu province of J&K state. A sum of 252 subjects including 102 migraine patients and 150 non-migrainous unrelated healthy controls were enrolled for the present study. PCR-RFLP was performed for determining MTHFR gene variations. For detecting insertion/deletion in ACE gene PCR was performed. In case of MTHFR, ‘T’ allele (variant allele) and TT genotype (variant) was found to be present only in migraine patients but not in controls thereby suggesting its positive role in migraine pathophysiology. For ACE I/D polymorphism, higher frequency of DD genotype (32.35 % vs 15.3 %) and D allele (0.51 vs 0.4) were observed in patients than in controls. Logistic regression analysis revealed a significant association of ACE I/D polymorphism with risk of migraine. However, a direct link of MTHFR C677T polymorphism with migraine risk was not found.

<b><i>Introduction:</i></b> Migraine is a neurovascular disorder and is clinically characterized by episodic attacks of mild to severe headaches. Due to the involvement of multiple environmental and genetic factors, it has become a much more complex neurological condition to understand. Apart from the environmental variables, a plethora of genes have been implicated, and one such example is <i>ESR</i>1. The present study was focused to find out the association of two important polymorphisms, namely, <i>Pvu</i>II and <i>Xba</i>I of the <i>ESR</i>1 with migraine in the population of Jammu and Kashmir (UT). <b><i>Methods:</i></b> The PCR-RFLP genotyping method was utilized to detect <i>Pvu</i>II and <i>Xba</i>I polymorphism, and the result was confirmed by statistical analysis. <b><i>Results:</i></b> Although we did not find a signification association of <i>ESR</i>-<i>Pvu</i>II polymorphism with migraine susceptibility {OR: 1.14 at 95% CI [0.76–1.71] (<i>p</i> value 0.5)}, a strong association was found with the clinical subtype of migraine; migraine with aura (MA) {OR: 2.014 at 95% CI [1.069–3.792] (<i>p</i> value 0.028)}. Furthermore, a significant association of <i>ESR</i>-<i>Xba</i>I polymorphism was observed with migraine {OR: 1.908 at 95% CI [1.252–2.907] (<i>p</i> value 0.002) and its both clinical subtypes; migraine without aura (MO) {OR: 1.870 at 95% CI [1.186–2.950] (<i>p</i> value 0.006)} and MA {OR: 2.014 at 95% CI [1.069–3.792] (<i>p</i> value 0.028)}. <b><i>Conclusion:</i></b> In conclusion, <i>ESR</i>1-<i>Xba</i>I polymorphism is significantly associated with migraine risk including both subtypes (MA and MO) in the North Indian population of Jammu.

Background The risk of Congenital Heart Defects (CHD) is greatly influenced by variants within the genes involved in folate-homocysteine metabolism. Polymorphism in MTHFR (C677T and G1793A) and MS/MTR (A2756G) genes increases the risk of developing CHD risk, but results are controversial. Therefore, we conducted a case–control association pilot study followed by an up-dated meta-analysis with trial sequential analysis (TSA) to obtain more precise estimate of the associations of these two gene variants with the CHD risk. Methods For case–control study, we enrolled 50 CHD patients and 100 unrelated healthy controls. Genotyping was done by PCR–RFLP method and meta-analysis was performed by MetaGenyo online Statistical Analysis System software. For meta-analysis total number of individuals was as follows: for MTHFR C677T 3450 CHD patients and 4447 controls whereas for MS A2756G 697 CHD patients and 777 controls. Results Results of the original pilot study suggested lack of association for MTHFR C677T and MS A2756G polymorphism with risk of CHD whereas MTHFR G1793A was significantly associated with the disease. On performing meta-analysis, a significant association was observed with MTHFR C677T polymorphism but not with MS A2756G. Trial sequential Analysis also confirmed the sufficient sample size requirement for findings of meta-analysis. Conclusions The results of the meta-analysis suggested a significant role of MTHFR in increased risk of CHD.

No abstract

The rising incidence rates of prostate cancer (CAP) have become a global health disorder. It has a complex etiology and includes both potentially modifiable environmental factors and non-modifiable genetic components. In this study, we aimed to identify the potential and significant non-genetic risk factors associated with CAP in the population of Jammu and Kashmir. A total of 320 study subjects (120 clinically confirmed CAP patients and 200 healthy age-matched unrelated participants) were registered for this investigation after obtaining their prior consent. A predesigned health questionnaire and hospital-based patient history were used to collect data pertaining to clinical variables, sociodemographic characteristics, anthropometric parameters, and biochemical indices. The result revealed that diet patterns (non-vegetarianism, p=0.01), lack of physical activity (p=0.0007), dwelling (urban residents, p=0.0105), higher levels of serum LDL-cholesterol (p=<0.0001), triglyceride (p=0.01), VLDL-cholesterol (p=0.02), total cholesterol (p=0.0527), creatinine (p=0.0006), sodium (p=0.0429), urea (p=0.0006), and PSA (p=<0.0001) were significantly associated with CAP. Moreover, higher mean age (69.82±15.5), the extent/duration of diabetes mellitus (DM) (p=0.0007), lack of physical activity (p=0.0007), high intake of red meat (p=0.0005), LDL-Cholesterol (p=<0.0001) and positive family history (p=<0.0001) were found to be the most significant risk factors for CAP. The study notably identified the most significant and novel (extent/duration of diabetes and serum levels of LDL, VLDL) non-genetic risk factors associated with prostate cancer in the population of the Jammu region thus helping to target the high-risk populations and informing preventive interventions.

The rising incidence rates of prostate cancer (CAP) have become a global health disorder. Its complex aetiology includes potentially modifiable environmental factors and non-modifiable genetic components. In this study, we aimed to identify the potential and significant non-genetic risk factors associated with CAP in the population of Jammu and Kashmir. A total of 320 study subjects (120 clinically confirmed CAP patients and 200 healthy age-matched unrelated participants) were registered for this investigation after obtaining their prior consent. A predesigned health questionnaire and hospital-based patient history were used to collect data about clinical variables, sociodemographic characteristics, anthropometric parameters, and biochemical indices. The result revealed that dietary patterns (non-vegetarianism, p=0.01), lack of physical activity (p=0.0007), dwelling (urban residents, p=0.0105), higher levels of serum LDL-cholesterol (p=<0.0001), triglyceride (p=0.01), VLDL-cholesterol (p=0.02), total cholesterol (p=0.0527), creatinine (p=0.0006), sodium (p=0.0429), urea (p=0.0006), and PSA (p=<0.0001) were significantly associated with CAP. Moreover, higher mean age (69.82±15.5), the extent/duration of diabetes mellitus (DM) (p=0.0007), lack of physical activity (p=0.0007), high intake of red meat (p=0.0005), LDL-Cholesterol (p=<0.0001) and positive family history (p=<0.0001) were found to be the most significant risk factors for CAP. The study notably identified the novel (extent/duration of diabetes and serum levels of LDL, VLDL) non-genetic risk factors associated with prostate cancer in the population of the Jammu region of J&K.