Single nucleotide polymorphisms in LCAT may contribute to dyslipidaemia in HIV-infected individuals on HAART in a Ghanaian population

© 2020, The Author(s). Highly active antiretroviral therapy (HAART) is known to cause lipid abnormalities such as dyslipidaemia in HIV-infected individuals. Yet, dyslipidaemia may not independently occur as it may be worsened by single nucleotide polymorphisms (SNPs) in lecithin cholesterol acyltransferase (LCAT) and lipoprotein lipase (LPL). This case–control study was conducted in three-selected hospitals in the Northern part of Ghana. The study constituted a total of 118 HIV-infected participants aged 19–71 years, who had been on HAART for 6–24 months. Dyslipidaemia was defined based on the NCEP-ATP III criteria. HIV-infected individuals on HAART with dyslipidaemia were classified as cases while those without dyslipidaemia were grouped as controls. Lipid profile was measured using an automatic clinical chemistry analyzer and genomic DNA was extracted for PCR (GeneAmp PCR System 2700). Overall, the prevalence of dyslipidaemia was 39.0% (46/118). High levels of low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), and reduced levels of high-density lipoprotein cholesterol (HDL-C) were observed in all cases. A total of 256 selected PCR amplicons comprising 137 LPL (exons 3, 5 and 6) and 119 LCAT (exons 1, 4, and 6) were sequenced in 46 samples (Inqaba Biotech). Six (6) clinically significant SNPs were identified in exons 1 and 4 for LCAT whereas 25 non-clinically significant SNPs were identified for LPL in exons 5 and 6. At position 97 for LCAT exon 1, there was a deletion of the nucleotide, ‘A’ in 32.5% (13/40) of the sampled population while 67.5% (27/40) of the sample population retained the nucleotide, ‘A’ which was significantly associated with dyslipidaemic outcomes in the study population (p = 0.0004). A total of 25 SNPs were identified in exons 5 and 6 of LPL; 22 were substitutions, and 3 were insertions. However, none of the 25 SNPs identified in LPL exon 5 and 6 were statistically significant. SNPs in LCAT may independently contribute to dyslipidaemia among Ghanaian HIV-infected individuals on HAART, thus, allowing genetic and/or functional differential diagnosis of dyslipidaemia and creating an opportunity for potentially preventive options

The impact of age on sex bias in models for height and sex estimation based on hand and foot dimensions the impact of age on sex bias

There are sex differences in age-related bone modifications after puberty. Androgens stimulate radial bone expansion in males, while estrogen stimulates endosteal apposition but limits periosteal expansion in females. The potential effect of age on observed sex biases in height and sex estimation models is most significantly relevant for forensic or bioarchaeological research that relies, at least in part, on hand and foot bone measurements of living or skeletal remains for purposes of identification or demographic reconstruction. This study sought to determine whether age affects sex biases in models for height and sex estimation which are based on hand and foot dimensions. The study was cross-sectional between January and June 2021 at the University for Development Studies. The study included 379 participants (male = 161 and female = 218) between 20 and 29 years. The hand length (HL), hand width (HW), foot length (FL) and foot width (FW) were measured twice from the left side using computer-assisted analysis. Univariable and multivariable discriminant and linear regression models were formulated for sex and height estimation respectively. Females were better classified than males with sex biases (male-female) ranging from −1.3% to −22.6% for all models. Models for height estimation were more precise in males (bias: 0.0–0.3 cm) than in females (bias: 0.3–1.4 cm). However, age did not have an impact on the observed sex biases. Height and sex estimation from foot and height dimensions may not need adjustment for age. This may, however, be limited to a given population and age group

Interactions between sex and the age at disease onset on cardiometabolic risk factors in a Ghanaian population with type 2 diabetes mellitus: A cross‐sectional study

Abstract Background and Aim The are sex differences in cardiometabolic risk factors in type 2 diabetes mellitus (T2DM) as well as the age at disease onset. However, the impact of these risk factors on the age at onset of T2DM is less known in the Ghanaian population. An understanding of the differential impact of cardiometabolic risk factors on the age at onset on T2DM may lead to sex‐specific interventions in preventive and management strategies for T2DM. Methods The study was cross‐sectional from January to June 2019 at the Bolgatanga regional hospital. The study involved 163 T2DM patients (Female = 103, Male = 60), aged from 25 to 70 years. The body mass index (BMI) and the waist‐to‐hip ratio (WHR) were measured following standardized anthropometric techniques. Fasting venous blood samples were collected and analyzed for cardiometabolic risk factors including total cholesterol (TCHOL) and low‐density lipoprotein (LDL) cholesterol. Results While TCHOL was higher in males than females (mean [SD]: F = .78 [1.37], M = 4.27 [1.39]) and LDL higher in females than males (mean [SD]: [F = 4.33 [1.22], M = 3.87 [1.26]), these did not, however, attain conventional statistical significance for TCHOL (t = 1.985, p = 0.05) and LDL (t = 2.001, p = 0.05). There were however, significant interactions between sex and the age at disease onset on TCHOL (t = −2.816, p = 0.006) and LDL (t = −2.874, p = 0.005), which were independent of the BMI, WHR and disease duration. The relationship between the age at disease onset and that of TCHOL and LDL were positive in females but negative in males. Conclusion Fasting plasma TCHOL and LDL increases with increasing age at onset of T2DM in females but decreases in males. Strategies for the prevention and management of T2DM should be sex‐specific. Females with T2DM should be given more attention regarding their fasting plasma cholesterol (total) and LDL cholesterol as they are more likely than men to have increased levels of these lipids with increasing age at disease onset

Is sexual dimorphism in morphometric variables of the proximal femur moderated by age in adulthood? A cross-sectional study in Ghana

Ageing may impact proximal femoral morphometry in both males and females. However, it is not clear whether the observed sexual dimorphism is attributable to an ageing effect in the post-pubertal period. The potential effect of ageing on sexual dimorphism in the proximal femur is most significantly relevant for forensic and osteoarchaeological research. The study was cross-sectional and comprised 123 participants (females = 72 and males = 51), who were recorded between January 2017 and June 2018 at the Korle-Bu Teaching Hospital. The study participants were aged between 31 and 79 years. The femoral head diameter, the femoral neck diameter, the femoral neck-shaft angle, and the femoral hip axis length were measured from the right side by radiographic technique and following standard osteometry methods. The femoral head-neck ratio was then calculated. All measurements were taken twice and then averaged. The (mean ± SD) femoral head diameter was higher in males (5.1 ± 0.56 cm) than in females (4.8 ± 0.51 cm) with a moderate effect size (p = 0.023, Hedge’s g = 0.56). Similarly, the femoral neck diameter was higher in males (4.0 ± 0.52 cm) than in females (3.8 ± 0.48 cm) with a small effect size (p = 0.025, Hedge’s g = 0.40). The femoral head axis length increased by 0.03 cm annually in males. The observed sexual dimorphism in the femoral head and neck diameters could not, however, be attributable to the ageing effect. Ageing may not have an impact on sexual dimorphism in the femoral head and neck diameters among persons older than 30 years in the Ghanaian population.</p

Sex estimation from the percutaneous lengths of the femur and the ulna in a Ghanaian population using discriminant function analysis

Sex estimation models form a vital part in Forensic human identification but they are usually population-specific. This study aimed to develop and test sex estimation models for a Ghanaian population using percutaneous lengths of the femur (FL) and ulna (UL). The study was cross-sectional from June to July 2020, involving 99 adults (male: 52, females: 47), aged between 19 and 31 years. The lengths of the femur and ulna were measured using standard anthropometric techniques. All measurements were taken twice from the left side and then averaged. The sample was randomly divided into training (n = 60) and holdout (n = 39) samples before been analysed using discriminant function analysis (DFA). Cross-population studies were performed to test the reliability of the models. Males had longer femur and ulna than females (p < 0.001). Sex estimation accuracies from all the models ranged from 68.2% to 81.8% for males and 52.9% to 86.7% for females. The standardized mean difference (SMD: Cohen’s d) by sample type ranged from −0.19 to 3.08 (living samples), 0.19 to 4.73 (cadaveric samples) and 0.30 to 5.46 (skeletal samples). The SMD by population type were: Africa, excluding Mixed or White ethnicities (d= −0.02 to 3.08), Asia (d = 0.83 to 4.85) and Europe or the Americas (d = 0.30 to 3.38). When other population-specific models were tested on the holdout sample, the difference in the average sex estimation accuracy ranged from 0 to 25.6%. Sex estimation models from the lengths of the femur and ulna are specific to a the studied population and the type of sample used

Can maternal postpartum testosterone and estradiol retrospectively predict the offspring's sex at birth? A cross‐sectional study in Ghana

Abstract The selection of X‐ or Y‐bearing spermatozoa during fertilization may depend on maternal circulating sex hormones. The zona pellucida of the developing oocyte is adapted to be selective for the Y‐bearing spermatozoa when maternal circulating androgens are relatively high. This study sought to determine whether maternal postpartum testosterone and estradiol can retrospectively predict the offspring sex at birth. The study was cross‐sectional from December 2020 to April 2021 at the Reproductive and Child Health unit in Tamale. The participants were part of a previous study and comprised 178 mother–offspring dyads (mother–daughter = 90, mother–son = 88). The mothers were between the ages of 18 and 35 years and had a median (interquartile range‐IQR) postpartum interval of 111 (60–187) days. A single venous blood sample was drawn from the mothers between 8.00 am and 12.00 pm local time on each day to reduce diurnal variation. Postpartum serum estradiol, testosterone, and sex hormone‐binding globulin were assayed using the ELISA technique. The serum total testosterone and the testosterone‐to‐estradiol ratio (TT: E2) were higher in mothers with sons while estradiol was higher in mothers with daughters (p 1.659 nmol/L, ≤141.862 pmol/L, and > 31.5, respectively for total testosterone, estradiol, and TT: E2. The maternal testosterone‐to‐estradiol ratio may be more predictive of offspring sex at birth than either testosterone or estradiol alone

Does sex interact with the 2D:4D ratio or adult circulating hormones on the estimated glomerular filtration rate? A cross‐sectional study in Ghana

Abstract The 2D:4D ratio is the putative marker of prenatal hormone exposure and has been suggested as a correlate of adult circulating testosterone and estrogen. The study aimed to determine whether sexual dimorphism in the estimated glomerular filtration rate (eGFR) can be partly explained by the 2D:4D ratio or adult circulating testosterone or estrogen. The study was cross‐sectional from June to December 2021 at the University for Development Studies. The study involved 206 healthy adults (Female = 93, Male = 113) between 18 and 30 years. The 2D:4D ratio was measured using computer‐assisted analysis. Venous blood samples were collected and analyzed for testosterone, estradiol and creatinine using the ELISA technique and routine biochemical analysis. The adjusted eGFR was calculated using the Chronic Kidney Disease Epidemiology Collaboration (CKD‐EPI) creatinine equation (2021). The eGFR and the testosterone‐to‐estradiol ratio (TT:E2) were significantly higher in males than in females (p < 0.001). There was a significant interaction between sex and the TT:E2 on the eGFR (p < 0.001). Although the relationship between the eGFR and the TT:E2 was negative in both males and females, a unit change in the TT:E2 had a greater impact on the eGFR in females (B = −1.38) than in males (B = −0.01). Sexual dimorphism in the eGFR is influenced by both testosterone and estradiol. Although the sex difference in the eGFR may be influenced by the TT:E2, estrogen seems to account for more variability in the eGFR than testosterone

Are sex differences in blood cell count and hemoglobin moderated by the 2D:4D ratio? A cross‐sectional study in a Ghanaian population

Abstract Background and Aims There are sex differences in blood cell count and hemoglobin (HGB) in adulthood due to differences in the levels of circulating sex hormones. The second‐to‐fourth digit ratio (2D:4D) is the putative marker of prenatal hormone exposure. The 2D:4D or the right‐left difference (Dr‐l) are sexually dimorphic and are correlates of sex hormones in adulthood. The study sought to determine whether sex differences in adult blood cell count and HGB can be partly explained by the 2D:4D or Dr‐l. Methods The study was cross‐sectional between June and December 2021 at the University for Development Studies. The study involved 207 healthy participants (females = 113) aged from 18 to 32 years. The right‐hand (2D:4DR), and the left‐hand (2D:4DL) digit ratio and their difference (Dr‐l) were measured using Computer‐assisted analysis. Blood cell count, HGB, testosterone, and estradiol were measured from venous blood samples using an automated HGB analyzer and ELIZA technique. Results The platelet count was inversely related to the 2D:4DR in the total sample with the 2D:4DR accounting for about 0.2% (adjR2 = 0.002) of the variability in platelet count. However, there was a sex difference as indicated by the significant interaction between sex and the 2D:4DR on platelet count (p = 0.03). The relationship between platelet count and the 2D:4DR was negative in females but positive in males. Also, there was a positive relationship between HGB concentration and the Dr‐l in the total study sample, where the Dr‐l accounted for about 0.6% (adjR2 = 0.006) of the variability in HGB concentration. Sex interacted significantly with the Dr‐l on HGB concentration (p = 0.01) such that the relationship between HGB and the Dr‐l was positive in females but negative in males. Conclusion Prenatal hormone exposure, as indexed by the 2D:4D ratio, may partly account for the observed sex differences in platelet count and HGB levels in adulthood