Investigating the morphology and genetics of scalp and facial hair characteristics for phenotype prediction.

Microscopic traits and ultrastructure of hair such as cross-sectional shape, pigmentation, curvature, and internal structure help determine the level of variations between and across human populations. Apart from cosmetics and anthropological applications, such as determining species, somatic origin (body area), and biogeographic ancestry, the evidential value of hair has increased with rapid progression in the area of forensic DNA phenotyping (FDP). Individuals differ in the features of their scalp hair (greying, shape, colour, balding, thickness, and density) and facial hair (eyebrow thickness, monobrow, and beard thickness) features. Scalp and facial hair characteristics are genetically controlled and lead to visible inter-individual variations within and among populations of various ethnic origins. Hence, these characteristics can be exploited and made more inclusive in FDP, thereby leading to more comprehensive, accurate, and robust prediction models for forensic purposes. The present article focuses on understanding the genetics of scalp and facial hair characteristics with the goal to develop a more inclusive approach to better understand hair biology by integrating hair microscopy with genetics for genotype-phenotype correlation research.

Knowledge, attitude, and practice of infertility: a comparative study in infertile and fertile Indian women.

For women who are trying to conceive, it is critical to assess their general knowledge regarding fertility and fertility-awareness practices to identify the fertile window and their agency to achieve pregnancy. The couple's ability to deal with the infertility issue may be influenced by their beliefs and attitudes concerning infertility, which are based on social and cultural influences as well as their inner aspirations. As a result, it's critical to examine infertile and fertile woman's general knowledge of reproduction and infertility risk factors. It's also crucial to learn about women's attitudes toward infertility (social beliefs), as well as the repercussions of infertility and the practises they employ to avoid it. The present study includes 250 fertile and 250 infertile women. Data collection for infertile women was done from the Gynecology Outpatient Department (OPD). Participants from both groups i.e., infertile and fertile women have little knowledge about infertility but, infertile women have significantly higher knowledge than fertile women. Knowledge of the fertile period, as well as several potential causes of infertility, were found to be significantly higher in women with infertility problem rather than fertile women, indicating that the knowledge they have acquired is not attributable to education system, but rather to their experience gained during visits to medical practitioners. In addition to differences with respect to knowledge, infertile and fertile women differed in terms of both attitude (societal beliefs and social consequences of infertility) and practices. Better knowledge regarding infertility is likely to bring positive notes among women with infertility problems. Which will further improve the attitude and practices of society towards infertile women. Therefore, its crucial to introduce reproductive health education at high school or undergraduate level, to assist women in avoiding infertility and to help infertile women develop healthier attitudes regarding infertility treatment and coping techniques.

Trends of folate, vitamin B12 , and homocysteine levels in different trimesters of pregnancy and pregnancy outcomes.

OBJECTIVE: To evaluate the effect of folate and vitamin B12 levels on pregnancy progression and outcomes. METHODS: The present study is a prospective follow up study of 100 pregnant women. Biochemical investigations (plasma homocysteine, folate, and vitamin B12 levels) were performed on all pregnant women in first, second, and third trimesters. Nonparametric tests were used to compare the differences in median levels and odds ratio analysis for the assessment of the risk between the selected biomarkers and adverse pregnancy progression and outcomes. RESULTS: The pregnant women at their first antenatal care visit were found to be predominantly folate replete (97%) and vitamin B12 deficient (60%). Hyperhomocysteinemia in first and second trimesters was found to pose more than 3-fold increased risk for adverse pregnancy outcomes (P = .006 and .0002, respectively). Low birth weight (LBW) was found to be the most common adverse pregnancy outcome (52%), and was significantly associated with vitamin B12 deficiency in the first and second trimesters (82%, P < .0001; 71.4%, P = .04, respectively). CONCLUSION: The vitamin B12 deficiency is more common among Indian pregnant women as compared to folate deficiency. Hyperhomocysteinemia is an independent risk factor for pregnancy complications. Vitamin B12 deficiency in first and second trimesters is associated with LBW babies.

General obesity and Cardiovascular diseases among Gaur Brahmin population of NCR/Delhi.

AIMS: Cardiovascular diseases are one of the leading causes of mortality and morbidity among human beings. The presence of endemic Cardiovascular diseases and their risk factors differ from population to population. The Cardiovascular diseases associated risk factors are sub-categorised into two forms, one is traditional and the other is non-traditional risk factors. The present study shows the prevalence of both risk factors and its association with Cardiovascular diseases, especially with reference to general obesity. MATERIALS AND METHODS: The present study includes a total of 506 Gaur Brahmins residing in Delhi and National Capital Region India. Household survey was conducted and data were collected by using pre-tested interview schedule. Somatometric measurements were taken following the international standard techniques. Approx 5 ml blood was collected from each individual unrelated up to the first cousion. The serum was used to analyse the lipid profiles and fasting glucose level. All necessary statistical analyses were performed using the Statistical Package for Social Sciences (SPSS) and MS Excel. The ethical clearance was obtained from the Ethical Committee of the Department of Anthropology, University of Delhi, Delhi. RESULTS AND CONCLUSION: The mean value of Somatometric variables such as Body Mass Index, Waist circumference and Waist-hip ratio and physiological variables DBP and SBP (diastolic blood pressure and systolic blood pressure) were found to be higher than their respective ranges in the studied population. General obesity, though found to be less common in this population as compared to abdominal obesity, but it is found to be contributing to dyslipidemia.

Differential global and MTHFR gene specific methylation patterns in preeclampsia and recurrent miscarriages: A case-control study from North India.

AIM: The purpose of the present study is to evaluate and understand the association of global and MTHFR gene specific methylation in preeclampsia and recurrent miscarriages in light of MTHFR C677T polymorphism. METHODS: The subjects comprised of recurrent miscarriage cases, their gestation matched controls, preeclampsia cases and matched controls. A set of women at full term were also recruited. Fasting blood sample (~5 ml) was drawn from all the participants followed by DNA extraction, global DNA methylation and MTHFR gene specific methylation. MTHFR C677T polymorphism was analysed by PCR followed by RFLP. RESULTS HIGHER: Global DNA methylation at maternal front (p = 0.04) and hypomethylation of MTHFR gene at fetal front (p = 0.001) might be a characteristic of preeclampsia. Recurrent miscarriage cases were having significantly (p = 0.002) hyper MTHFR gene specific methylation as compared to controls. Women carrying CT genotype were found to be having significantly (p = 0.001) higher global DNA methylation in PE cases and MTHFR gene specific methylation (p = 0.005) in RM cases. Intergenerational analysis revealed similar patterns of global DNA methylation and MTHFR gene specific methylation among both PE and RM cases at maternal and fetal fronts. CONCLUSION: The study highlights the importance of global DNA methylation in Preeclampsia and MTHFR gene specific methylation in recurrent miscarriages. MTHFR C677T gene polymorphism in association with global and gene specific methylation seem to play a pivotal role in PE and RM respectively.

Association of DD genotype of angiotensin-converting enzyme gene (I/D) polymorphism with hypertension among a North Indian population.

Hypertension, a major risk factor for cardiovascular diseases, is among the leading causes of morbidity and mortality worldwide. Genetic predisposition to the risk of developing hypertension due to angiotensin-converting enzyme (ACE) gene insertion(I)/deletion(D) polymorphism (through altered serum ACE activity) is well documented among various populations. The present study investigated the possible association between ACE (DD) genotype and hypertension using a nested case-control study design including 451 individuals (of either sex in the age group 30-65 years) from a rural North Indian population practicing agriculture and lacto-vegetarianism. Blood Pressure was classified using JNC-7 criterion. Age- and sex-matched individuals were selected from normotensive (N-122), pre-hypertensive (N-123), hypertensive not on medication (N-122), and hypertensive on medication (N-84) categories. Amplification of DNA and genotyping of PCR product was done using standard protocols. From the analysis, comparatively higher frequency of individuals with DD genotype in the hypertensive category was observed, indicating a possible relation between DD genotype and hypertension. The odds ratio analysis revealed 2.225 (1.13-4.37)-fold significant increased risk for hypertension among cases, validating the vulnerability of individuals with DD genotype towards hypertension. Thus, the present study highlights the increased risk for developing hypertension due to ACE DD genotype in the studied population.

An assessment study of CVD related risk factors in a tribal population of India.

BACKGROUND: Non communicable diseases (NCDs) have become a major concern for global health. Cardiovascular diseases (CVDs) contribute 48 % towards the deaths due to NCDs in India. Though studies have been conducted in urban and rural areas, data related to tribal communities is limited. The present study aims to examine various CVD related risk factors including hypertension, elevated fasting blood glucose, obesity and metabolic syndrome among a tribal population. METHODS: The present study was an observational, cross- sectional study conducted on Rang Bhotias, a tribal population of India. The participants were adults of age between 20 and 60 years. Prior to blood sample collection, interview schedule was administered which included relevant information like age, lifestyle, socio-economic status, education and occupation In addition to this, various anthropometric and physiological measurements were taken. Logistic regression was used to examine the association of the various health disorders related to CVDs with age, gender and behavioural factors (smoking, alcohol consumption and physical activity). RESULTS: A total of 288 participants were surveyed for the study including 104 males and 184 females. High BMI (56.6 %), hypertension (43.4 %), metabolic syndrome (39.2 %) and abdominal obesity (33.7 %) were the most prevalent CVD risk factors observed in the population. The multivariate logistic regression analysis, conducted to examine the contribution of risk factors including behavioural risk factors on the studied abnormalities, revealed age to be a significant risk factor for all the abnormalities except elevated fasting blood glucose. Gender and physical inactivity contributed significantly towards development of hypertension. Physical inactivity was also found to be associated with high BMI levels. CONCLUSION: In the present study, hypertension, high BMI levels, MS and abdominal obesity have been found to be high among the studied population. The status of the population with respect to these abnormalities implicates susceptibility of the community towards various common disorders. The prevention and treatment intervention programs should be implemented taking into consideration age and gender.

A49T, R227Q and TA repeat polymorphism of steroid 5 alpha-reductase type II gene and Hypospadias risk in North Indian children.

BACKGROUND/AIMS: Hypospadias is a common congenital error of genital development, the frequency of which is increasing. As androgens have a significant role in the development of the male urethra, we sought to investigate the association between functional polymorphisms of SRD5A2 gene in relation to hypospadias. METHODS: We examined DNA samples of 96 cases and 105 controls for SRD5A2-A49T, R227Q and TA repeat gene polymorphisms. RESULT: Absence of 49T locus and 227Q locus was observed in the present study. At the (TA) n repeat site, TA (0) allele was observed to be the most common allele in both cases (91.7%) and controls (90%). TA (9/9) genotype exhibited an odds ratio of 3.03 (95% C.I. = 0.18-50.14, p = 0) with respect to only middle phenotypes. Analysis of the demographic data depicted the agricultural background aspect of the parents of the cases. 72.27% of the cases (affected with Hypospadias) have parents having agriculture as a primary occupation. CONCLUSION: As longer TA repeats are associated with lower enzymatic activity and lower DHT levels as reported among Caucasians, this polymorphism may have an effect (rather small) in predisposing the population of the present study to the risk of Hypospadias of lesser severity. Due to small sample size, the 3.03 O.R. is not significant and a larger sample is needed to validate the results. Large scale screening of Hypospadias and other 46 X,Y disorders of sexual development is needed especially in India, where the majority of the population is from agricultural background. The results of the present study are likely to assist the health planners to initiate screening of Hypospadias among the farmer community to combat the risk of Hypospadias.

Opportunity for natural selection among five population groups of Manipur, North East India.

Opportunity for natural selection among five population groups of Manipur in comparison with other North East Indian population has been studied. Crow's index as well as Johnston and Kensinger's index for natural selection were calculated based on differential fertility and mortality. The mortality component was found to be lower compared to fertility component in all the populations which may attribute to comparatively improved and easily accessible health care facilities. However, different selection pressures, artificial and natural, seem to be influencing the selection intensity through induced abortion and spontaneous abortion among the two non-tribal migrant groups: Bamon and Muslims, respectively. This study highlights the probable interaction of artificial and natural selection in determining the evolutionary fate of any population group.

Isonymy and repeated pairs of surnames among the Muslims of Manipur, India.

Surnames have been used for studying population structure in different parts of the globe. The present study is aimed at indirectly estimating the degree of inbreeding from surnames and understanding the influences of the clan-like structure on mate selection among Manipuri Muslims. The proportion of isonymy I was found to be 0.0144. The non-random and random components were -0.0226 and 0.0239, respectively. The total inbreeding coefficient was estimated to be 0.0018. The scores of random pairs (RP) and random repeated pairs (RPr) were 0.026 and 0.010, respectively. The score of RP was higher than the RPr which gives a ratio of 0.38, indicating that Manipuri Muslims have a tendency of acquiring mates from within a given set of surnames while not in favour of isonymy. To conclude, surname/clan is a criterion for mate selection for various reasons among this population.

Distribution of beta-globin haplotypes among the tribes of southern Gujarat, India.

The present study was carried out in Indo-European speaking tribal population groups of southern Gujarat (India) to elucidate the allelic and haplotypic content of ß-globin system in individuals with HbAA genotypes. 6 neutral restriction sites of the ß-globin system were analysed and various statistical parameters were estimated to draw meaningful interpretations. All the 6 sites were found to be polymorphic and most were in Hardy-Weinberg Equilibrium in the studied group. Haplotypes were constructed using two different combinations of the 6 restriction sites analysed. Analysis of the 5 sites revealed a set of three predominant haplotypes, '+----', '-++-+' and '-+-++'; and haplotypes '+--', '++-' and '+++' were found to be the most frequent when the 3 sites were used to construct the haplotypes. Haplotypic heterozygosity levels (>83%) observed in the present study group were comparable to those observed in African and Afro-American populations and greater than other world populations. All the ancestral haplotypes, +-----, -++-+, -+-++ and ----+ were found in the study group. The distribution pattern of various haplotypes was consistent with the global pattern. The paucity of comparable data from other Indian populations restricted one from making interpretations about the study group's relationships with other Indian populations but the results were indicative of older population histories or experience of gene flow by the study group and their affinities with populations of southern India.

Hypospadias risk and polymorphism in SRD5A2 and CYP17 genes: case-control study among Indian children.

PURPOSE: Hypospadias is a common congenital error of genital development, the frequency of which is increasing. As androgens have a significant role in the development of the male urethra, we sought to investigate the association between 2 functional polymorphisms, CYP17-A1/A2 and SRD5A2-V89L, which are involved in the biosynthesis of testosterone and dihydrotestosterone, respectively, in relation to hypospadias. MATERIALS AND METHODS: We examined DNA samples of 80 cases and 100 controls for SRD5A2-V89L and CYP17-A1/A2 gene polymorphisms. Information pertaining to family history, preoperative position of the urethral meatus and parental occupations along with maternal reproductive profile were collected for cases and controls. RESULTS: Genotyping of 80 cases and 100 controls revealed a significant association between V89L polymorphism and hypospadias (OR 2.4, 95% CI 1.2-4.6, p <0.05). When analyzing the risk of hypospadias based on grade, genotypic distribution of SRD5A2-LL genotype differed significantly between severe forms and controls, with an odds ratio of 3.6 (95% CI 1.2-10.0, p = 0.02). Of affected children 71.25% had parents from a rural background, with agriculture as the primary occupation. A statistically significant association was observed for the LL genotype (OR 4.6, 95% CI 1.7-12.29, p <0.05) between children with parents having an agricultural background (likely exposed to pesticides) and controls with no such exposure. CYP17-A1/A2 genotypes did not show any significant results. CONCLUSIONS: V89L polymorphism of the SRD5A2 gene is a strong determinant of hypospadias risk among children of Indian origin. However, our results suggest that the presence of leucine allele, especially among agriculturalists, may increase the propensity of having a child with hypospadias.

APOE, MTHFR, LDLR and ACE polymorphisms among Angami and Lotha Naga populations of Nagaland, India.

Several common polymorphisms in the ApoE, ACE, MTHFR and LDLR genes have been implicated in the pathogenesis of common complex diseases across world populations. This study investigates the prevalence of five known and clinically important common polymorphisms in Angami and Lotha Naga populations. A total of 112 unrelated healthy volunteers (52 Lotha Nagas and 60 Angami Nagas) participated in the study. All the five genes were found to be polymorphic in the studied populations. The Lotha Nagas displayed higher mutant allele frequencies than the Angami Nagas except for the T allele frequency of the AvaII polymorphism of the LDLR gene, though chi square did not reveal any significant population differences by genotypes. In view of the relatively high mutant allele frequencies in both the populations, they are likely to be at a high risk of developing various complex diseases as they shift from an active and rigorous lifestyle to a more sedentary one.

SRD5A2 gene mutations--a population-based review.

Knowledge of steroid 5 alpha-reductase type 2 (SRD5A2) gene mutations is expanding, and its role has been implicated in various disease susceptibilities concerning reproductive health. Extensive research has revealed the tendency for specific SRD5A2 gene mutations to be passed along certain racial, ethnic and geographically isolated groups, which suggests population specificity of these mutations. The review provides evidence of variation in the mutational spectrum of the SRD5A2 gene leading to population-specific high prevalence of characteristic disease or phenotypic expression.

A genomic insight into diversity among tribal and nontribal population groups of Manipur, India.

Twenty autosomal markers, including linked markers at two gene markers, are used to understand the genomic similarity and diversity among three tribal (Paite, Thadou, and Kom) and one nontribal communities of Manipur (Northeast India). Two of the markers (CD4 and HB9) are monomorphic in Paite and one (the CD4 marker) in Kom. Data suggest the Meitei (nontribal groups) stand apart from the three tribal groups with respect to higher heterozygosity (0.366) and presence of the highest ancestor haplotypes of DRD2 markers (0.228); this is also supported by principal co-ordinate analysis. These populations are found to be genomically closer to the Chinese population than to other Indian populations.