Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that result in deficient cortisol synthesis and elevated androgen levels. Individuals with CAH are exposed to long-term glucocorticoid therapy, which is known to affect bone metabolism. In the present study, we investigated MRI-derived bone mineral density (BMD) in 52 individuals with CAH (33 women and 19 men) and 53 sex- and age-matched controls (33 women and 20 men). We detected a significantly lower skull BMD in individuals with CAH compared to controls, as well as significantly higher skull BMD in women compared to men. Our findings suggest a complex interplay between long-term glucocorticoid exposure and bone metabolism in CAH.
Background: Hashimoto's thyroiditis (HT) is a prevalent autoimmune thyroid disorder influenced by intricate interactions between genetic and environmental factors. Among the candidate susceptibility genes, CTLA-4 and PTPN22 play significant roles as immunoregulatory genes linked to autoimmune diseases. This study aimed to explore the relationship between the CTLA-4 rs231775 and PTPN22 rs2476601 polymorphisms and HT in patients from Chattogram, Bangladesh. Methodology: A case–control study was conducted involving 44 HT patients and 26 healthy controls. Thyroid hormone levels (FT3, FT4, TSH) and anti-thyroid peroxidase (anti-TPO) antibodies were evaluated. Genotyping of CTLA-4 rs231775 and PTPN22 rs2476601 was performed using PCR-RFLP and confirmed by Sanger sequencing. Results: Females represented 81.8% of HT patients, and most patients were aged 18–40 years. HT patients showed significantly elevated TSH and anti-TPO levels and significantly reduced FT3 and FT4 levels compared with controls ( p < 0.0001). CTLA-4 rs231775 showed no significant association with HT susceptibility under any inheritance model after adjustment for age and sex. The AG genotype was the most common genotype in both groups. PTPN22 rs2476601 showed complete monomorphism, with all participants carrying the GG genotype. Correlation analysis demonstrated a positive correlation between FT3 and FT4 and a negative correlation between TSH and FT4. Conclusion: CTLA-4 rs231775 and PTPN22 rs2476601 polymorphisms were not significantly associated with HT susceptibility in the studied Bangladeshi participants. The findings suggest possible population-specific genetic variation in HT susceptibility and highlight the need for larger multicentre studies in South Asian populations.
Background Type 2 diabetes mellitus (T2DM) is one of the major disease burdens in Indian population. Peroxisome proliferator-activated receptor gamma (PPARγ) has been demonstrated to be a risk factor in development of T2DM. SNP rs1801282 of PPARγ can be a key factor in T2DM susceptibility. Aim This study aimed to evaluate the association of PPARγ rs1801282 with T2DM risk in an Indian population of Eastern Uttar Pradesh. Methods A total of 434 T2DM patients and 232 healthy controls were enrolled. Genotyping was performed using PCR-RFLP. Genotype and allele frequencies were analyzed using logistic regression. Results Our data did not show significant association of PPARγ rs1801282 (C/G; Pro12Ala) genotypes or alleles with T2DM risk. However, the analysis of the clinical parameters demonstrated a significant association between variant genotypes and age at diagnosis with variant allele G being protective. Conclusion Our findings suggest that although PPARγ rs1801282 may not be a major genetic determinant of T2DM susceptibility in this population, the variant allele is protective for the age of onset of the disease.
Background Hashimoto's thyroiditis (HT) is a prevalent autoimmune thyroid disorder influenced by intricate interactions between genetic and environmental factors. Among the candidate susceptibility genes, CTLA-4 and PTPN22 play significant roles as immunoregulatory genes linked to autoimmune diseases. This study aimed to explore the relationship between the CTLA-4 rs231775 and PTPN22 rs2476601 polymorphisms and HT in patients from Chattogram, Bangladesh. Methodology A case–control study was conducted involving 44 HT patients and 26 healthy controls. Thyroid hormone levels (FT3, FT4, TSH) and anti-thyroid peroxidase (anti-TPO) antibodies were evaluated. Genotyping of CTLA-4 rs231775 and PTPN22 rs2476601 was performed using PCR-RFLP and confirmed by Sanger sequencing. Results Females represented 81.8% of HT patients, and most patients were aged 18–40 years. HT patients showed significantly elevated TSH and anti-TPO levels and significantly reduced FT3 and FT4 levels compared with controls (p < 0.0001). CTLA-4 rs231775 showed no significant association with HT susceptibility under any inheritance model after adjustment for age and sex. The AG genotype was the most common genotype in both groups. PTPN22 rs2476601 showed complete monomorphism, with all participants carrying the GG genotype. Correlation analysis demonstrated a positive correlation between FT3 and FT4 and a negative correlation between TSH and FT4. Conclusion CTLA-4 rs231775 and PTPN22 rs2476601 polymorphisms were not significantly associated with HT susceptibility in the studied Bangladeshi participants. The findings suggest possible population-specific genetic variation in HT susceptibility and highlight the need for larger multicentre studies in South Asian populations.
Background Diabetes mellitus is a metabolic disorder marked by elevated blood glucose levels resulting from defects in insulin secretion, insulin action, or both. According to the WHO, the number of people living with diabetes rose dramatically from 108 million in 1980 to 422 million in 2014. This study aimed to determine the Global prevalence of serum creatinine and urea levels impairment in diabetic patients. Objective This systematic review and meta-analysis aimed to determine the Global prevalence of abnormal serum creatinine and urea levels among diabetic patients. Methods A systematic search was performed using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol for studies reporting impaired serum creatinine and urea in diabetes mellitus patients from January 1, 2000, and January 7, 2025. Data were collected through searches of institutional electronic repositories, registries, and online databases such as PubMed, Science Direct, and Google Scholar. To organise search results and remove duplicates, this systematic review and meta-analysis used EndNote X7 (Thomson Reuters, London). The extracted data were analyzed using Stata software version 17. Nine case-control studies, one cohort study, and eight cross-sectional studies were included in this study. Heterogeneity across studies was assessed using Cochran's Q statistic and I2 statistics. Subgroup analysis was carried out when the I2 value exceeded 50%, indicating substantial heterogeneity. Results In this systematic review and meta-analysis, the combined prevalence of serum creatinine impairment was found to be 27% (95% CI: 18–36%), while urea impairment was observed in 25% of cases (95% CI: 15–34%). Serum creatinine and urea impairment showed substantial heterogeneity, with I2 values of 97.91% and 98.01%, respectively (P < 0.001 for both). Geographically, Europe reported the highest rates of serum creatinine and urea impairment, with a prevalence of 48% (95% CI: 47–50%). When stratified by publication year, studies published in 2020 or later showed a prevalence of 33% (95% CI: 16–50%). Conclusion Individuals with diabetes are at an increased risk for abnormalities in serum creatinine and urea levels and should be prioritized for regular screening. Consequently, implementing targeted preventive strategies for this population is crucial to reduce the risk of kidney dysfunction.
