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Background: It is necessary to identify human individuals for personal, social, and legal reasons. The use of conventional methods such as use of fingerprints and lip prints is of paramount importance since personal identification by other means such as DNA analysis is sophisticated and not available in rural areas and developing countries. Lip Prints are the Wrinkles and grooves imprints visible on the lips They have been named by Tsuchihashi as 'Sulci labiorum rubrorum'. 19 major groups have been identified in humans by Karl Landsteiner (1971). Among these only "ABO" and "Rhesus" groups are used most of the time. Studies of the association between lip prints, blood groups and gender are scanty in the literature. There are other reference data available on various forms of personal identification such as fingerprints, lip prints, etc. which are of paramount importance. Aim and Objectives: The present study aims to determine and investigate the percentage distribution and the association of lip print, right and left thumbprints, blood groups, and gender among the north Indian population. Materials and Methods: For the study, we enrolled 200 north Indian students aged between 18 years to 25 years as a subject after obtaining ethical clearance from the ethical committee. Written informed consent was obtained from the study subjects. A single calibrated trained interviewer described the purpose and process of the study to the participants and recorded lip print, thumbprint, and blood groups. The examination was done on a simple chair and in abundant daylight conditions. Results: Among the total of 200 north Indian students aged between 18 years to 25 years, lip print in various quadrants was compared with gender, blood groups, and thumbprints were compared, and interpretation was made. Conclusion: The present study concluded that the Reticular pattern was the most predominant lip print pattern followed by Intersected and Branched Patterns in both genders. B+ve blood group was predominant among subjects. Loop pattern was the most predominant thumbprint. There was a significant correlation between left and right thumbprints. The present study did not show any statistical correlation of lip print pattern with gender (P value 0.65), thumbprint pattern (P value 0.56), and ABO blood groups (P value 0.841). [ABSTRACT FROM AUTHOR]

X‐linked retinoschisis (XLR) is a rare medical condition that involves in the splitting of neurosensory layers and the impairment of vision in the retina. In majority of the XLR cases, pathogenic variants in Retinoschisin 1 (RS1) gene have been implicated in males with an early age of onset during early childhood. In the present study, we have recruited two North Indian families having multiple affected male members, who were diagnosed with XLR. The entire protein‐coding region of RS1 was screened by PCR‐Sanger sequencing and two recurrent pathogenic variants (p.I81N and p.R102Q) were unraveled. The in vitro study of these variants demonstrated the aggregation of mutant RS1 within the endoplasmic reticulum. Furthermore, mutant forms of this protein showed significant intracellular retention, which was evident by the absence of retinoschisin protein fractions in the extracellular media. These inferences were also supported by extensive bioinformatics analysis of the mutants, which showed dramatic conformational changes in the local structure of retinoschisin. Thus, our study suggests that the identified pathogenic variants interfere with proper protein folding, leading to anomalous structural changes ultimately resulting in intracellular retention of retinoschisin within the retina. [ABSTRACT FROM AUTHOR]

Diabetic nephropathy (DN) is specified by microalbuminuria, glomerular lesions, and renal fibrosis leading to end-stage renal disease. The pathophysiology of DN is multifactorial as a result of gene–environment interaction. Clinical studies suggested that gene mutations affect various pathways involved in DN, including extracellular matrix (ECM). During chronic hyperglycemia, collagen type-4-mediated ECM overproduction occurs, leading to renal fibrosis and DN development. In this study, COL4A1 gene variant rs605143 (G/A) was analyzed in diabetes and DN patients from the study population. We genotyped 386 study subjects, comprising 120 type 2 diabetes mellitus (T2DM) patients, 120 DN, and 146 healthy controls. All study subjects were analyzed for biochemical assays by commercially available kits and genotypic analysis by polymerase chain reaction–restriction fragment length polymorphism and confirmed by Sanger sequencing. Statistical analyses were done using SPSS and GraphPad. Anthroclinicopathological parameters showed a significant association between T2DM and DN. Genotype AA of COL4A1 gene variant rs605143 (G/A) showed a significant association with T2DM and DN compared with controls with 5.87- and 8.01-folds risk, respectively. Mutant allele A also significantly associated with T2DM and DN independently compared with healthy controls with 2.29- and 2.81-time risk in the study population. This study's findings suggested that COL4A1 gene variant rs605143 (G/A) can be used as predictive biomarkers for T2DM and DN independently. However, this gene variant needs to be analyzed in a large sample to explore the shared genetic association between T2DM and DN. [ABSTRACT FROM AUTHOR]

The cephalometric norms for orthognathic surgery (COGS analysis) are the standard benchmark in cephalometrics for any orthognathic surgical diagnosis and treatment planning. Since the introduction of cephalometrics by Broadbent, numerous studies have been conducted to establish craniofacial norms of different ethnicities. Most of these studies, however, determined craniofacial norms for Caucasian people and may not be applicable to other ethnic groups due to differences in their facial appearance. Therefore, it is essential to study and compare the existing cephalometric parameters between Caucasians and Indians to validate their application during the treatment planning of the orthognathic surgery. This review focuses on studying the cephalometric norms for the North Indian (NI) population and establishing the COGS analysis for the population of North India. The objective is to determine the cephalometric parameters of Angle's dental and skeletal Class I faces for the NI population. The following databases were searched for the present study -PubMed, Ovid MEDLINE, and EMBASE. The initial inclusion criteria comprised studies written in English and quoting cephalometric norms in Indian population. The time period of publications was not determined. The quality features evaluated were sample description, variables analyzed, and how cephalometric standards were evaluated. Initially, 49 articles were retrieved. After removal of the duplicated records and assessing for the eligibility, four articles met the inclusion criteria. These four articles were included in the systematic review. The NI people are characterized by having small cranial base, short facial height, protrusive chin, and more inclination of mandibular incisors in comparison with Caucasians. Due to limited research on the Central Indian cephalometric norms, the Caucasian norms are still referred for the diagnosis and treatment planning of orthognathic surgery for NI population. [ABSTRACT FROM AUTHOR]

Introduction: Adequate knowledge of the anatomic variation and root canal morphology is paramount for long term endodontic success. The presence of two canals in Mesiobuccal (MB) root is commonly associated with maxillary molars in various populations. Aim: To retrospectively evaluate the prevalence of a second mesiobuccal canal (MB 2) canal in maxillary first and second molars in Delhi-National Capital Region (NCR) population using Cone Beam Computed Tomography (CBCT) analysis. Materials and Methods: This retrospective study evaluated the records of complete maxillary CBCT scans of 204 maxillary first and second molars from January 2016 till May 2019 from different CBCT centres in Delhi-NCR region to determine the anatomy and morphology in June 2019. The prevalence of second MB 2 canals was recorded and correlated with age, gender and symmetry. The z-test for proportions was used to assess the differences among the subgroups. Results: The number of roots in 204 teeth in both maxillary molars was determined. The prevalence of 3-rooted configuration was 98.55% in maxillary first molars and 79.4% in maxillary 2nd molars. Also, in maxillary second molars, 7.4% were single rooted and 13.2% had 2 rooted configuration. Three rooted configuration and variable canal number was commonly reported in maxillary molars. Prevalence of MB 2 canal was 87.2% in maxillary 1st molars and 64.2% in maxillary 2nd molars. Also, the prevalence was 87.2% bilaterally in maxillary first molars and 65.7% on the right and 53.9% on the left in maxillary second molars respectively. Type IV canal configuration was most prevalent in 44.60% of maxillary first molars and type 1 configuration (35.78%) for the maxillary second molars. Conclusion: Prevalence of MB 2 canals in maxillary first and second molars was found to be high in North Indian population and the clinician should suspect its presence in all cases. Prevalence of MB 2 had bilaterally symmetrical distribution without any association with age or gender. MB roots were more likely to exhibit type IV and type II canal configurations in maxillary first molars and type I and type II configurations in second molars. [ABSTRACT FROM AUTHOR]

Age estimation is a vital part in many of forensic investigations, be it for the dead or living. Despite its importance, accuracy of age estimation has always been an issue in legal matters, especially in the adult population. This study has been conducted on a North Indian adult population, furthering the research on formulated odonto-metric indices and their variation among the population, with the aim of establishing their suitability for estimation of age in the population under study. The two methods employed on first and second molars were tooth coronal index (TCI) and pulp chamber tooth height ratio (PCTHR). Of the two teeth, the second molar was found to have a significant correlation compared with the other one and the TCI was found to be marginally better than PCTHR when applied on second molars. The error ranges for TCI (first molar and second molar) and PCTHR (second molar) methods were found to be same, i.e. ±7 years. The choice of an age-group specific method is important for the most accurate and reliable dental age estimations in forensic contexts. [ABSTRACT FROM AUTHOR]

Chronic myeloid leukaemia is a clonal disorder arising from hematopoietic stem cell, affecting all the lineage of haematopoietic stem cells. The average age of affection in chronic myeloid leukemia is 60 to 65 years and is extremely rare in childhood comprising 3% of paediatric leukaemia. An institution-based study was carried out to reveal the statistics of pediatric chronic myeloid leukaemia patients in a tertiary health care centre of North India serving mainly the economically under privileged population belonging to minority groups. [ABSTRACT FROM AUTHOR]

Background: Variants in CDKN2B/CDKN2B-AS1 have been reported to modulate glaucoma risk in several GWAS across different populations. CDKN2B/CDKN2A encodes tumor suppressor proteins p16INK4A/p15INK4B which influences cell proliferation/senescence in RGCs, the degeneration of which is a risk factor for glaucoma. CDKN2B-AS1 codes a long non-coding RNA in antisense direction and is involved in influencing nearby CDKN2A/CDKN2B via regulatory mechanisms. Methods: Current study investigated four SNPs (rs2157719, rs3217992, rs4977756, rs1063192) of aforementioned genes in a case–control study in a North Indian cohort. Genotyping was done with Taqman chemistry. In addition, an updated meta-analysis was performed. Results: Two SNPs, rs3217992 and rs2157719 were found to be significantly associated with the disease. The frequency of 'T' allele of rs3217992 was significantly lower in cases (POAG/PACG) [p = 0.045; OR = 0.80(CI = 0.65–0.99) and p = 0.024; OR = 0.73(CI = 0.55–0.96)], respectively than in controls. Genetic model analysis revealed that TT + CT genotype confers 0.73-fold protection against POAG [p = 0.047; OR = 0.73(CI = 0.54–0.99)] and trend assumed additive model gives 0.53 times higher protection against PACG progression. However the association of rs3217992 with POAG and PACG did not remain significant after Bonferroni correction. For rs2157719, the 'C' allele was found to be less prevalent among cases (POAG/PACG) with respect to controls. Cochran Armitage trend test assuming additive model revealed 0.77 and 0.64-fold protection against POAG and PACG respectively. Bonferroni correction (pcorr = 0.003) was applied and the association of rs2157719 remained significant in PACG cases but not among POAG cases (p = 0.024). The 'CC' genotype also confers protection against primary glaucoma (POAG/PACG) among males and female subjects. The frequency rs1063192 and rs4977756 did not vary significantly among subjects, however the haplotype 'CATA' was found to be associated with increased glaucoma risk. An updated meta-analysis conducted on pooled studies on POAG cases and controls revealed significant association between rs1063192, rs2157719, rs4977756 and POAG except rs3217992. Conclusion: The study concludes significant association between INK4 variants and primary glaucoma in the targeted North Indian Punjabi cohort. We believe that deep-sequencing of INK4 locus may help in identifying novel variants modifying susceptibility to glaucoma. Functional studies can further delineate the role of CDKN2B and CDKN2B-AS1 in primary glaucoma for therapeutic intervention. [ABSTRACT FROM AUTHOR]

Smoking is the introduction of toxic substances into the body. Smokers inhaled hazardous compounds that are injurious to health. Currently, smoking is a global threat to public health, mainly in developing countries like India. The present study aimed to investigate the status and correlation of malondialdehyde (MDA) and superoxide dismutase (SOD) in smokers of North Indian population. In this case, a total of 60 subjects (30 smokers and 30 age-matched healthy non-smokers) were enrolled from in and around areas of Lucknow. The level of MDA and SOD activity were estimated in all subjects. For statistical analysis, student’s t-test was performed between smokers and non-smokers. Pearson correlation coefficients were calculated among smokers. P value < 0.05 was considered statistically significant. The mean level of MDA was found significantly high in smokers as compared to non-smokers (P<0.001). The mean of SOD activity was found significantly low in smokers as compared to non-smokers (P<0.001). MDA and SOD have shown a significantly negative correlation among smokers (r= -0.47, P<0.001). Results showed that the smoking habit is the sole reasons for the oxidative stress in smokers. Raised level of MDA and declined SOD are the potential risk factors for chronic diseases. Cessation of smoking is required to reduce the burden of life-threaten chronic diseases. [ABSTRACT FROM AUTHOR]

Background: Human leukocyte antigen (HLA)-G antigens are inducible non-classical major histocompatibility complex class Ib molecules which play an important role in the regulation of inflammatory processes and immunomodulation in autoimmune diseases. There are controversial reports on the impact of HLA-G gene polymorphisms on rheumatoid arthritis (RA). This study aimed at examining the impact of 14 base pair (bp) ins/del (rs66554220) and +3142G>C (rs1063320) polymorphisms and correlating these with soluble HLA-G (sHLA-G) levels to understand the susceptibility to RA in our sample cohort. Methods: Genomic DNA from 140 RA patients and 125 healthy controls was isolated using the salting out method. The genotyping of two polymorphisms of HLA-G (+3142G>C and 14 bp ins/del) was done by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and PCR method, respectively. Levels of sHLA-G were estimated by ELISA and disease activity was calculated by disease activity score (DAS28-ESR). Results: The HLA-G +3142G>C polymorphism was found to be associated with a decreased risk of RA as attributed to recessive inheritance tested model results (OR = 0.4, 95%C.I. = 0.2–0.9, p =.0313*, GG + GC versus CC). Our finding did not support an association between HLA-G 14 bp ins/del variant and risk/protection of RA. The sHLA-G levels were significantly lower in +3142GG and +3142GC RA patients as compared to healthy controls. Conclusion: HLA-G +3142G>C gene polymorphism might decrease the risk of occurrence of RA in our sample cohort as +3142CC genotype is associated with increased sHLA-G levels. Abbreviations: HLA-G: human leukocyte antigen-G; RA: rheumatoid arthritis; MHC: major histocompatibility complex; UTR: untranslated region; URR: upstream regulatory region; SLE: systemic lupus erythematous; PCR-RFLP: polymerase chain reaction restriction fragment length polymorphism; sHLA-G: soluble HLA-G; bp: base pair; ACR/EULAR: American College of Rheumatology/European League against Rheumatism; RF: rheumatoid factor; Anti-CCP: anti-cyclic citrullinated peptide; DAS28-ESR: Disease Activity Score 28- Erythrocyte Sedimentation Rate; TJC: tender joint count; SJC: swollen joint count; ESR: erythrocyte sedimentation rate; PGA: patient global assessment; HTN: hypertension; DM: diabetes mellitus; TB: tuberculosis; IEC: Institute Ethics Committee; ELISA: enzyme linked immunosorbent assay; ROC: receiver operating characteristics; AUC: area under curve; SNP: single nucleotide polymorphism; MTX: methotrexate; DMARDs: disease modifying anti-rheumatic drugs; Treg: regulatory T cells; IL: interleukin Units: soluble HLA-G: Units/mL {U/mL} [ABSTRACT FROM AUTHOR]

CAD (Coronary Artery Disease) morbidity is becoming an endemic worldwide. Recently, the role of pro- and anti-inflammatory cytokines in the development of atherosclerotic plaques has been explored, but the association of their genetic polymorphisms and CAD has yet not been established. The present study aimed to investigate the association of IL-8-251A/T (rs4073) and IL-10 -592C/A (rs1800872) polymorphisms and the risk of CAD in North Indian population. 1000 subjects (500 angiographically confirmed CAD patients and 500 controls) were genotyped by ARMS-PCR. Results revealed a significant risk association of both the polymorphisms with CAD. The heterozygous and the mutant genotypes of IL-8 rs4073 were both found to be associated with the risk of disease after adjusting for the confounders (padj < 0.001, ORadj 3.121, 95% CI 1.926-5.056 and padj < 0.001, ORadj 3.116, 95% CI 1.952-4.973, respectively), but only the mutant AA genotype of IL-10 rs1800872 correlated with risk of disease with padj < 0.001, ORadj 4.106, 95% CI 2.160-7.806). Stratifying the samples on the basis of gender revealed CAD in heterozygous and mutant in males (padj < 0.001, ORadj 3.693, 95% CI 2.031-6.716; padj < 0.001, ORadj 3.288, 95% CI 1.848-5.851, respectively) and only the mutant to be associated with risk of disease in females (padj = 0.010, ORadj 2.867, 95% CI 1.284-6.404) for IL-8 rs4073, whereas only the mutant genotype AA of IL-10 rs1800872 associated with CAD risk in males (padj < 0.001, ORadj 5.821, 95% CI 2.831-11.970). Stratified analysis based on age showed a significant higher risk in the heterozygous and mutant genotype in subjects below 40 years of age (padj = 0.039, ORadj 5.052, 95% CI 1.081-23.602; and padj = 0.025, ORadj 5.533, 95% CI 1.239-24.704, respectively) compared with the heterozygous and mutant genotype association of the risk of disease in subjects above 40 years of age (padj < 0.000, ORadj 2.964, 95% CI 1.747-5.027; and padj < 0.000, ORadj 2.859, 95% CI 1.716-4.762, respectively) in IL-8 rs4073. For IL-10 rs1800872, risk association was seen only in subjects above 40 years of age (padj < 0.001, ORadj 5.049, and 95% CI 2.414-10.561). The present study exhibited associations of IL-8-251A/T (rs4073) and IL-10 -592C/A (rs1800872) with CAD in the North Indian population and also that the associations are gender and age dependent. [ABSTRACT FROM AUTHOR]

There is a drastic increase in the number of people suffering from coronary artery disease (CAD) worldwide with Indians being no exception. Being a developing country and experiencing a dramatic shift in lifestyle and eating habits, urbanization and industrialization, all these factors have collectively predisposed the Indian population towards CAD and the prevalence data are quite alarming. Genetic studies have disclosed the role of genes in CAD susceptibility and severity. One such gene is proprotein convertase subtilisin/kexin type 9 (PCSK9) which is sought to modulate the cholesterol levels and hence, has implications in CAD. We aim to explore the association of PCSK9 A/G (rs505151) polymorphism and hence, the susceptibility towards CAD in the north Indian population. Five-hundred angiographically confirmed CAD patients and 500 healthy individuals as control were genotyped by polymerase chain reaction-restriction fragment length polymorphism. Statistical analysis revealed a significant association with the G allele with odds ratio (OR)=1.50, 95% confidence interval (CI)=1.22-1.85 and P=0.000. Also, a strong association was observed for CAD risk with OR=1.590, 95% CI=1.106-2.284 and P=0.012. However, the homozygous GG mutant genotype was found to be completely absent from our population. Analysis of the dominant model also revealed an association with CAD risk. Our work demonstrated for the first time the association of PCSK9 A/G (rs505151) polymorphism with CAD risk in the north Indian population. [ABSTRACT FROM AUTHOR]

Global gene expression profiling is a powerful tool enabling the understanding of pathophysiology and subsequent management of diseases. This study aims to explore functionally annotated differentially expressed genes (DEGs); their biological processes for coronary artery disease (CAD) and its different severities of atherosclerotic lesions. This study also aims to identify the change in expression patterns of DEGs in atherosclerotic lesions of single-vessel disease (SVD) and triple-vessel disease (TVD). The weight of different severities of lesion was estimated using a modified Gensini score. The gene expression profiling was performed using the Affymetrix microarray platform. The functional annotation for CAD was performed using DAVID v6.8. The biological network gene ontology tool (BiNGO) and ClueGO were used to explore the biological processes of functionally annotated genes of CAD. The changes in gene expression from SVD to TVD were determined by evaluating the fold change. Functionally annotated genes were found in an unique set and could be distinguishing two distinct severities of CAD. The biological processes such as cellular migration, locomotion, cell adhesion, cytokine production, positive regulation of cell death etc. enriched the functionally annotated genes in SVD, whereas, wound healing, negative regulation of cell death, blood coagulation, angiogenesis and fibrinolysis were enriched significantly in TVD patients. The genes THBS1 and CAPN10 were functionally annotated for CAD in both SVD and TVD. The 61 DEGs were identified, those have changes their expression with different severities of atherosclerotic lesions, in which 13 genes had more than two-fold change in expression between SVD and TVD. The consistent findings were obtained on validation of microarray gene expression of selected 10 genes in a separate cohort using real-time PCR. This study identified putative candidate genes and their biological processes predisposing toward and affecting the severity of CAD. [ABSTRACT FROM AUTHOR]

Background: Coronary artery disease (CAD) is major cause of death and morbidity worldwide. Arachidonate 12/15-lipoxygenase (ALOX) is a member of the lipid peroxidizing enzyme family and implicated in the pathogenesis of atherosclerosis, but with contradicting results. Aim: The present study aimed to investigate the association of two polymorphisms in ALOX15 (rs2619112 and rs7217186) and the risk of CAD in North Indian population. Methods: A total of 500 angiographically confirmed CAD patients and 500 control subjects of North Indian population were recruited in the case-control study and genotyped by PCR-RFLP. Results: The data showed a significant association between the two polymorphisms and CAD. Multiple logistic regression revealed heterozygous genotype of both the polymorphisms viz. GA of rs2619112 and CT of rs7217186 to be associated with significant high risk of CAD after adjustment for confounders (p = 0.034, OR = 2.274, 95% CI (1.062-4.870) and p = 0.000, OR = 3.407, 95% CI (2.092-5.548) respectively). Stratified analysis based on gender showed GA and AA of rs2619112 each significantly increased the risk of CAD in females (p = 0.001, OR = 13.120, CI = 2.780-61.928; p = 0.028, OR = 5.393, CI = 1.196-24.316 respectively) whereas only GA increased CAD risk in males (p = 0.005, OR = 2.277, CI = 1.290-4.020). In case of rs7217186, CT and TT showed a significant high risk of CAD in males (p = 0.000, OR = 4.048, CI = 2.678-6.119; p = 0.000, OR = 2.861, CI = 1.928-4.245). Conclusion: The present study shows that rs7217186:C > T and rs2619112:G > A of ALOX15 are associated with increased risk of CAD in the North Indian population. [ABSTRACT FROM AUTHOR]

This study investigated the role of IL-1β-511 (rs16944), TLR4-896 (rs4986790) and TNF-α-308 (rs1800629) polymorphisms in type 2 diabetes mellitus (T2DM) among an endogamous Northern Indian population. Four hundred fourteen participants (204 T2DM patients and 210 nondiabetic controls) were genotyped for IL-1β-511, TLR4-896 and TNF-α-308 loci. The C allele of IL-1β-511 was shown to increase T2DM susceptibility by 75% (OR: 1.75 [CI 1.32-2.33]). Having two parents affected by T2DM increased susceptibility by 5.7 times (OR: 5.693 [CI 1.431-22.648]). In this study, we have demonstrated a conclusive association with IL-1β-511 locus and IL-1β-511-TLR4-896 diplotype (CC-AA) and T2DM, which warrants further comprehensive analyses in larger cohorts. [ABSTRACT FROM AUTHOR]

The novel HLA‐A*24:537 allele differs from HLA‐A*24:02:01:01 by a nucleotide change at gDNA 294 C → T. [ABSTRACT FROM AUTHOR]

Background: Stroke is a multifactorial disease and is influenced by complex environmental interactions. The contribution of various risk factors to the burden of stroke worldwide is not well known, particularly in developing countries. The present case-control study is aimed at exploring the association between a low socioeconomic status and the risk of ischemic stroke among the North Indian population. Methods: The study design was a hospital-based, case-control study. Age- and sex-matched controls were included. The demographic characteristics and risk factor variables were documented by means of a personal interview through a standardized case record form. The household asset index for determining the socioeconomic status (HAISS) was used for the assessment of the socioeconomic status of the population. HAISS was validated with the widely used Kuppuswamy scale for measurement of socioeconomic status. The multivariable logistic regression model was used to estimate the odds ratio associated with stroke. Results: In all, 224 ischemic stroke patients and 224 controls were recruited between February 2009 and February 2012. The mean age of cases and controls was 53.47 ± 14 and 52.92 ± 13.4, respectively. The low economic status was independently associated with the risk of ischemic stroke after adjustment for demographic and risk factor variables (OR 2.8; 95% CI 1.2-6.3). Conclusion: Our findings suggest that there is a significant association between a low socioeconomic status and the risk of ischemic stroke risk in North Indian population. Well-designed studies embedded with long-term prospective cohorts are required for confirming the results. © 2015 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background: The gene encoding eNDS is located on chromosome 7q36, a genetic region previously linked to metabolic syndrome, cardiovascular and renal diseases. Generally, in diabetes there are numerous genes involved, each being a small contributor in type 2 diabetes mellitus (T2DM) manifestation. A 27 bp variable number of tandem repeat (27 bp VNTR-a/b) in intron 4 of eNDS gene has gained attention and this polymorphism may affect the expression of eNDS. We studied the association of eNOS-27 bp VNTR with T2DM in north Indian population. Material and methods: Blood samples were collected in 0.5 M EDTA from 200 T2DM patients and 210 age/sex matched healthy controls. Genomic DNA was extracted from peripheral blood mononuclear cells (PBMC5) using the salting out method. The 27-VNTR polymorphism was determined by standard PCR amplification using forward and reverse primers 5'- AGGCCCTATGGTAGTGCCTTT-3' and 5'-TCTCTTAGTGCTGTGGTCAC-3' respectively. The genotypes were determined by analyzing the amplified products on 2% agarose gels. Genotypic and allelic frequencies were calculated by SPSS (version 15.0). Results: Clinical and biochemical profiles of healthy controls and T2DM cases as well as gender wise comparisons showed significant association in certain parameters (P <0.001). Five different alleles (I, II, IV, V and VI) were found in the study population. The genotypic frequency was significantly associated with T2DM (P <0.001). Conclusion: A significant role of allele 'I' in T2DM susceptibility was an interesting observation. Therefore, The 27 bp VNTR in eNDS gene polymorphism can be used as a probable marker in determining susceptibility to T2DM in north Indian population. [ABSTRACT FROM AUTHOR]

Background: Dimensions of kidney form an extremely important parameter for diagnosis and prognosis of renal pathologies. Dimensions vary according to the geographical locations, racial variations, diet, environment and frequency of pathologies. Renal sizes in Indian population although studied frequently have not been standardized. Aim: The study was aimed at establishing some preliminary data of normal North Indian population, without a known renal pathology. Material and methods: Renal measurements i.e., length, width and parenchymal thickness were measured in 164 individuals, both males and females and their renal volume was calculated. The volume was then correlated with the age of the individuals. Analysis was then done for variability due to age, gender and laterality. Results: It was found that the males showed the maximum volume for both the right and the left kidneys in the fourth decade, where as the females had a maximum volume in the third decade. Volume tended to decrease after the fourth decade. The volume of the left kidney was more as compared to that of right side for both the males and females. Conclusion: Renal sizes of Indian are invariably lesser as compared to commonly quoted normal values in standard literatures. Inferences about renal sizes need to be made with reference to racial and regional variations rather than basing them on data from other population. [ABSTRACT FROM AUTHOR]

Introduction: Mixed dentition regression equations analyses (Moyers, Tanaka-Johnston) are based on European population, reliability of these methods is questionable over other population. Materials and Methods: The present study was conducted on total 260 study models. This study was done in two phases. In the first phase, linear regression equations were made. In the second phase, comparison of actual values of sum of mesiodistal width of canine, first and second premolars with the predicted values proposed by Moyers, Tanaka-Johnston, and the new proposed mixed dentition analysis for North Indian population were made. Results: Set of four linear regression equations for predicting sum of mesiodistal width of permanent canine, first premolar and second premolar in North Indian population from sum of mesiodistal width of mandibular incisors and mandibular first molars, were proposed as; (a) for males, maxillary arch, Y = 2.9 + 0.40X, (b) mandibular arch Y = 3.91 + 0.37X (c) for females, maxillary arch Y = 0.56 + 0.45X (d) mandibular arch Y = 1.14 + 0.42X. Moyers and Tanaka-Johnston, mixed dentition analysis, is found to be overestimating the mesiodistal width of unerupted canine and premolars in North Indian population. [ABSTRACT FROM AUTHOR]

Objective: The purpose of this case-control study was to determine the relationship between angiotensin converting enzyme (ACE) insertion/deletion polymorphism and serum ACE level in north Indian patients with ischemic stroke. Methods: In the present study, 224 ischemic stroke patients and 224 age- and sex-matched control participants were recruited. Genotyping was performed using polymerase chain reaction (PCR) method. Serum ACE levels were measured by colorimetric method. Our results were integrated with other reported studies from India for a meta-analysis. Results: We observed that DD genotypes were more frequently distributed in cases (32.6%) compared with controls (26.8%). Borderline significance was observed between DD genotype and risk of small vessel disease (SVD) stroke as compared to controls (OR, 1.9; 95% CI, 0.88-4.4; P value 0.09) assuming dominant model of inheritance. The mean ACE serum level in IU/l for II, ID, and DD genotypes were 17.1 ± 7.7, 26 ± 12.4, and 51.3 ± 21 (P value < 0.001) in cases and 16.5 ± 9.4, 26.8 ± 13, and 45.19 ± 18.3 (P value < 0.001) in controls, respectively. Discussion: The results of the study show lack of significant association between ACE insertion/deletion polymorphism and ischemic stroke, however, higher risk was observed with DD genotype in small vessel disease stroke, but with borderline significance. Meta-analysis of studies from India showed that DD genotype is associated with risk of ischemic stroke. [ABSTRACT FROM AUTHOR]

Background: Stroke is a multifactorial, polygenic disorder, influenced by both environmental and genetic factors. Aim: The purpose of this study was to determine the association of beta-1 and beta-2 adrenergic receptor (AR) polymorphisms with intracerebral hemorrhagic stroke (ICH) in a North Indian population. Materials and Methods: One hundred and six patients with intracerebral hemorrhage (ICH) and 106 age- and sex-matched controls were recruited. Genotyping was performed by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. RFLP results of three samples of each genotype were confirmed by DNA sequencing. Results: Mean age of cases and controls were 53.47 ± 14 and 52.92 ± 13.4, respectively. Significant association between Ser49Gly polymorphism of beta-1 AR and ICH in patients who had onset of disease at a later stage of life (>50 years) under a dominant model of inheritance (OR, 3.6; 95% 1.4 to 9.7) was observed. Under the dominant model of inheritance, Gln27Glu polymorphism of beta-2 AR was associated with risk of ICH (OR, 3.2; 95% CI, 1.7 to 5.8) and significant association persisted even after adjustment for demographic and other risk factor variables (OR, 2.9; 95% CI, 1.04 to 8; P = 0.04). Age-stratified analysis showed an independent significant association of Gln27Glu polymorphism of beta-2 AR with risk of ICH in patients those had onset of disease at young age (<50 years) under a dominant model of inheritance (OR, 3.5; 95% CI, 1.1 to 11). Conclusion: The present study provides the first preliminary evidence that Gln27Glu polymorphism of beta-2 AR may contribute modest effect in increase in risk of ICH in North Indian Population. Large prospective studies with large sample size are required to confirm these findings. [ABSTRACT FROM AUTHOR]

Type 2 diabetes mellitus (T2DM) is a metabolic pro-inflammatory disorder characterized by chronic hyperglycemia and increased levels of circulating cytokines suggesting a causal role of inflammation in its etiology. Polymorphism of cytokine genes including interleukin-6 ( IL- 6), tumour necrosis factor- α ( TNF- α) and interleukin-10 ( IL- 10) were studied in T2DM patients as well as in normal healthy controls. Genomic DNA was isolated from both T2DM patients and controls followed by quantification and genotyping by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using suitable primers. The genotypic, allelic and carriage rate frequency distribution in patients and controls were analyzed by SPSS (version 15.0). Odd ratios with 95 % confidence interval was determined to describe the strength of association by logistic regression model. Double and triple combinations of genotypes were analyzed by χ test. Gene-gene interaction and linkage disequilibrium tests were performed using SHEsis software. Individually, IL- 6, TNF- α and IL- 10 did not show any association. In double combination, IL- 6 −597 GA and TNF- α −308 GG genotypes increased the risk up to 21 times and in triple combination IL- 6 −597 AA, TNF- α −308 GG and IL- 10 −592 CA increased the risk of T2DM up to 314 times. In gene-gene interaction allele 'A' of all studied polymorphisms increased the risk of T2DM up to 1.41 times. Our results suggest that individuals having a haplotype combination of AA, GG and CA for IL- 6, TNF- α and IL- 10 gene polymorphisms will have higher susceptibility and be at greater risk of developing T2DM. [ABSTRACT FROM AUTHOR]

Background: A deletion of 287-bp Alu repeat of angiotensin-converting enzyme (ACE) insertion/deletion (I/D) gene is associated with hypertension. Purpose: The aim of this study is to determine the frequency of ACE (I/D) polymorphism in patients with obstructive sleep apnea (OSA). Methods: Genotyping of ACE (I/D) gene polymorphism and estimation of serum angiotensin-converting enzyme (SACE) activity were done in 813 subjects who underwent polysomnography. Of these, 395 were apneics and 418 were non-apneics. Results: The frequencies of II genotype (OR = 1.8, 95 % CI 1.26-2.60, p = 0.001) and I allele (OR = 1.4, 95 % CI 1.13-1.69, p = 0.001) of ACE gene were found to be significantly increased in patients with OSA as compared to patients without OSA. Frequency of II genotype was significantly decreased (OR = 0.46, 95 % CI 0.28-0.77, p = 0.003) in OSA patients with hypertension. In contrast, the frequencies of ID (OR = 1.80, 95 % CI 1.08-2.99, p = 0.024) and DD genotypes (OR = 2.15, 95 % CI 1.30-3.57, p = 0.003) were significantly increased in this group. The activity of SACE was significantly decreased in the apneic group as compared to the non-apneic group (OR = 0.99, 95 % CI 0.98-1.00, p = 0.04). Conclusions: The findings suggest that II genotype confers susceptibility towards development of OSA whereas DD genotype confers susceptibility towards hypertension irrespective of OSA. [ABSTRACT FROM AUTHOR]

Determination of sex constitutes the most important element during the identification process of human skeletal remains. Several sex-specific features of human skeleton have been exploited for sex determination with varying reliability. This study aims to obtain sexual dimorphic standards for ulnae of the north Indian population. Eight measurements were obtained on a sample of 106 ulnae (males-80, females-26) in the age range of 25-65 years. The sexual dimorphism index and demarking points were calculated for all the variables. The data were then subjected to stepwise and direct discriminant function analysis. The best discriminator of sex was the maximum length (84.9%) followed by radial notch width (84%). In stepwise analysis, these two variables were selected and provided an accuracy of 88.7% (M-87.5%, F-92.3%). The proximal end provided a classification rate of 81.1% (M-80%, F-84.6%) with selection of the notch length and olecranon width. [ABSTRACT FROM AUTHOR]

Background: β-Adrenergic receptor (βAR), a G-protein coupled receptor, is present on the bronchial smooth muscle cells and results in bronchodilation upon activation. The genetic factors determining βAR expression and function may not only alter the response of an individual to the therapy but also may serve as predictive markers for response to the agonists used in the therapy. The present study aimed at evaluating the role of βAR-16 and βAR-27 gene polymorphisms in asthma. Methods: A case-control study was performed with a total of 824 adult subjects, including 410 asthmatics and 414 healthy controls from regions of North India. The βAR-16 and βAR-27 polymorphisms were genotyped by PCR-RFLP. Results: Statistical analysis for the βAR-16 polymorphism revealed that the mutant Gly16 allele was significantly associated with asthma, with OR = 0.80, 95 % CI = 0.65-0.99, and P = 0.032. The Gly16/Gly16 mutant genotype also confers decreased risk toward asthma, with OR = 0.65, 95 % CI = 0.41-1.02, and P = 0.049. However, the βAR-27 polymorphism was not associated with asthma as it did not reach statistical significance, with OR = 0.86, 95 % CI = 0.69-1.07, and P = 0.163. Conclusion: The βAR-16 polymorphism confers a decreased risk toward asthma while the βAR-27 polymorphism is not associated with asthma in the studied North Indian population. [ABSTRACT FROM AUTHOR]

Background: According to the National Family Health Survey, asthma is one of the leading diseases in India. In order to understand the complexity of asthma, the susceptibility genes need to be targeted for their association. Glutathione S-transferases play a major role in the detoxification of metabolites of oxidative stress resulting in inflammation and asthma. In the present study, the hypothesis that GSTT1 and GSTM1 gene polymorphisms are associated with asthma was examined. Methods: This is the first study to investigate the role of GSTT1 and GSTM1 gene polymorphisms in asthma pathogenesis in a North Indian population. A total of 824 subjects were recruited, of which 410 were asthma patients, including 323 patients suffering from allergic rhinitis. The other 414 recruits were healthy controls from regions of North India. Multiplex PCR was used for genotyping the GSTT1 and GSTM1 gene polymorphisms. Results: The GSTT1 null allele was more prevalent in asthma patients (40 %) than in the control subjects (13.3 %), which yielded a nearly fourfold risk towards asthma with odds ratio (OR) (95 % CI) = 4.35 (3.04-6.24), χ = 75.34, and p = 0.000. The GSTM1 polymorphism also revealed a greater prevalence of the GSTM1 null allele in asthma patients (46.6 %) than in controls (39.4 %). Statistical analysis yielded a marginal risk toward asthma with OR (95 % CI) = 1.34 (1.01-1.79), χ = 4.37, and p = 0.036. Conclusions: Polymorphisms as a result of deletions in the GSTT1 and GSTM1 genes confer an increased risk towards asthma thereby suggesting the protective role of these functional genes in the development of the disease. [ABSTRACT FROM AUTHOR]

In this first report on the association of an IL- 10 promoter polymorphism with type 2 diabetes mellitus in a North Indian population, the −592A/C SNP (rs1800872) was genotyped by PCR-RFLP and the IL-10 level measured using ELISA. Although no significant difference was observed in the genotypic frequencies ( P = 0.657), diabetes patients carried a significantly higher number of A alleles at the −592 position, 25.6% ( P < 0.001, odds ratio 0.887, 95% CI 0.670-1.184). Significant correlations were detected in postprandial glucose levels of CC-genotype patients and controls ( P = 0.025), age and waist-hip ratio of CA patients and controls ( P ≤ 0.001), and fasting glucose ( P = 0.045) and low-density lipoprotein ( P = 0.049) in all patients and controls. The serum IL-10 level was significantly higher in patients than in controls ( P = 0.033). The polymorphism was significantly associated with disease incidence and its biochemical manifestations. [ABSTRACT FROM AUTHOR]

Background: High serum MBL level as well as polymorphisms in the mannose-binding lectin 2 (MBL2) gene resulting in MBL deficiency are involved in the mechanism of a number of non-infectious diseases such as asthma, conferring either risk or protection in different population studies. MBL being the first reactant of the MBL pathway is also a major determinant of the fate of the anaphylatoxins such as C3a and C5a, which are also pro-inflammatory mediators. The MBL2 gene polymorphisms thus control the serum levels of MBL as well as C3a and C5a. Objective: This is the first case-control study conducted in India, investigating the role of MBL2 codon 54 A/B polymorphism in asthma pathogenesis. Methods: A case-control study was performed with a total of 992 adult subjects, including 410 adult asthmatics and 582 healthy controls from regions of North India. The MBL2 codon 54 A/B polymorphism was genotyped by PCR-RFLP. Results: Statistical analysis for the codon 54 polymorphism revealed that the wild (A) allele was significantly associated with asthma with OR=1.9, 95% CI (1.4-2.4), and p< 0.001. Conclusion: The MBL2 codon 54 A/B polymorphism is significantly associated with asthma and its phenotypic traits as the wild (A/A) genotype confers a significant risk towards the disease in the studied North Indian population. [ABSTRACT FROM AUTHOR]

Nitric Oxide (NO) is an important molecule carrying number of different functions in humans. Published studies suggest that it may inhibit several key steps involved in the pathogenesis of atherosclerosis. Inhibition or reduction of NO due to Glu298Asp polymorphism may accelerate atherosclerosis. The aim of this study was to determine whether Glu298Asp polymorphism is implicated in the pathogenesis of coronary artery disease (CAD) among North Indian population from the state of Uttar Pradesh, India. We selected 253 CAD patients and 174 healthy, normotensive, non-diabetic controls, which were matched for gender and ethnicity. The Glu298Asp (rs1799983) variant was detected by genotyping subjects, using a polymerase chain reaction followed by restriction fragment length polymorphism. There was no significant difference found in the genotypic and allelic frequencies between patients and controls. Our study indicated that Glu298Asp polymorphism does not play any critical role in the pathogenesis of CAD, at least in North Indian population. [ABSTRACT FROM AUTHOR]

Determination of sex of unknown skeleton remains is the most important step in the identification process. Racial and regional differences in the populations create and maintain specificity in their dimorphic characteristics. Moreover, considering continued secular changes in the population structure, constant revision of osteometric standards becomes mandatory. In an effort to establish osteometric standards for the femur of contemporary North Indian populations, 122 adult femora of known sex (M: 94; F: 28) were collected in the Department of Forensic Medicine, IMS, BHU, Varanasi. Eight standard parameters were measured and analyzed by discriminant function analysis using SPSS 16. The accuracy of sex prediction ranged from 70.5% to 83.6% with single variables. In stepwise analysis, epicondylar breadth, proximal breadth, and antero-posterior diameter of the lateral condyle were found to be the most discriminating variables providing an accuracy of 90.2%. The results clearly indicate the importance of the ends of femur in the determination of sex. [ABSTRACT FROM AUTHOR]

Background: Essential hypertension is a complex genetic disorder influenced by diverse environmental factors. Of the various physiological pathways affecting the homeostasis of blood pressure, the renin-angiotensin system (RAS) is known to play a critical role. Angiotensin-I converting enzyme (ACE) is a significant component of RAS and an insertion/deletion (I/D) polymorphism in its gene has been implicated in predisposition to hypertension. Objective: The present study is aimed to determine the association, if any, of ACE I/D polymorphism with essential hypertension in a rural population of Haryana, India. Materials and Methods: The blood samples were collected from the patients visiting M. M. Institute of Medical Sciences, Mullana, Haryana. DNA from the patients (106) and control (110) specimens were isolated, amplified by PCR and analyzed employing agarose gel electrophoresis. Results: There was no significant difference in the distribution of DD, II and I/D genotypes of ACE polymorphism in essential hypertensive patients (28.8, 25.5, and 46.2%) and their ethnically matched normal control (24.5, 30, and 45.5), respectively. The two groups also presented with very similar allelic frequencies and were also found to be in Hardy-Weinberg equilibrium. Conclusions: The present study demonstrates that ACE I/D polymorphism is not a risk factor for essential hypertension in the hitherto unstudied rural population of Haryana. [ABSTRACT FROM AUTHOR]

Twenty-one hepatitis B virus (HBV) isolates from the state of Haryana (North India) were studied for genotype, subgenotype, serotype distribution and precore mutations. Assays of alanine aminotransminase (ALT) and HBeAg were performed on all samples. Genotypes, subgenotypes and serotypes were determined by amplification of pre-S1/S2 regions followed by RFLP and also by phylogenetic analysis of amplified products. Mutations were studied by amplification and sequencing of the precore region. Twenty-four percent of the samples had high ALT levels and 90% were HBeAg negative. It was observed that 90% of the samples were HBV D genotype, (subgenotype D1, serotype ayw2), 5% HBV A genotype (subgenotype A1, serotype adw2), and the remaining 5% were HBV E genotype (serotype ayw4). The subgenotype A1 was quite similar to the South African isolates. Phylogenetic analysis of the HBV isolates, based on the pre-S1/S2 gene sequences, confirmed genotype E. Amplification and sequencing of the precore region showed 1762A–T and 1764G–A mutations in 38 and 15% of the samples, respectively. 1809T was observed in 5% of the cases under study. This is the first report of the genotype E of hepatitis B virus in the Indian population. Efforts are underway to amplify and sequence the full length of this genotype E isolate. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Humans are exposed to various environmental chemicals such as organochlorine pesticide residues, heavy metals, polychlorinatedbiphenyls (PCBs) etc. There is paucity of data regarding the present blood levels of organochlorine residues in North Indian population with reference to reproductive health. The present study was designed to analyze the levels of organochlorine pesticide residues in maternal and cord blood samples of normal healthy women with full term pregnancy to gain insight into the current status of pesticide burden in newborns. Hexachlorocyclohexane (HCH) contributed maximum towards the total organochlorine residues present in maternal and cord blood followed by endosulfan, pp′ DDE and pp′ DDT being the least. This is also the first report indicating endosulfan levels in this population. Our data indicates a transfer rate of 60–70% of these pesticides from mothers to newborns and this high rate of transfer of pesticides is of great concern as it may adversely affect the growth and development of newborn. [ABSTRACT FROM AUTHOR]

IL-10 is an anti-inflammatory cytokine primarily produced by monocytes and macrophages and plays a key role in asthma. IL10 gene, present in chromosome 1q31–q32, is regulated primarily by transcription and its expression is found to be lower in asthmatics. Earlier studies in diverse populations have identified several promoter polymorphisms. However, no study has been carried out in a genetically untapped large population from the Indian Subcontinent. To investigate the association of the IL10 promoter polymorphisms and asthma in the North Indian population. The association study was conducted in a case–control as well as in a family-based design. Polymorphism at −1082 A/G, −819 C/T and −592 C/A nucleotides were genotyped in ethnically matched unrelated patients ( N=272), unrelated controls ( N=307) and nuclear families ( N=164). A suggestive evidence of association was obtained for −1082 A/G polymorphism at the level of alleles and genotypes with asthma in the case–control study ( P=0.03). A three-locus haplotype (ATA) was found to be more in asthmatics than in control individuals ( P=0.0085). On the other hand, a novel haplotype ATC was found to be more in controls than in asthmatics ( P=0.012). These results were further tested in a family-based study. A deviation of transmission was observed for the −1082 A/G polymorphism ( P=0.003). The ATA haplotype showed a preferential transmission in asthmatics ( P=0.03), while the GCC and a novel ATC haplotype showed preferential non-transmission in asthmatic individuals ( P=0.03 and 0.001, respectively). Using both case–control and family studies, we provide suggestive evidence that the ATA haplotype is positively, whereas GCC and a novel ATC haplotypes of IL10 gene are negatively associated with asthma in Indian population. Our results are interesting enough as to intensify further research to elucidate the functional significance of these single-nucleotide polymorphisms and haplotypes in asthma pathogenesis. [ABSTRACT FROM AUTHOR]

Aim: Sex determination occupies a relatively central position in the identification necessitated by medico legal experts or medical jurisprudence. The present study aims to determine sex by Cephalic Index among 100 North Indian medical students (50 males, 50 females). Method: Cephalic dimensions were taken in 100 North Indians using standard anthropometric instruments. Cephalic index was calculated. Results were statistically analysed. Results: Statistical analysis indicated the cephalic index of males was significantly higher than those of females (p<0.01). Conclusion: From the present study it can be inferred that cephalic dimensions can be successively used to determine sex in the above said population, with special reference to medico legal cases and population based studies. [ABSTRACT FROM AUTHOR]