The C588 T polymorphism of GABARG2 is associated with an increased risk of developing childhood IGE and may modulate patients' response to antiepileptic drugs.

BackgroundPuberty is the period of human growth and development. To determine the onset of puberty with regards to the effect of higher adiposity, together with growth parameters of the participants at various stages of sexual maturity for both sexes.MethodsThe study was conducted on 1944 children (8–16) years; 1022 girls (52.6%) and 922 boys (47.4%) were taken at random. Pubertal assessment was done using Tanner staging that assigned breast development in females and pubic and axillary hair in males and females. Testicular volume was recorded using a Prader orchidometer. Height, weight, body mass index (BMI), body mass (BM) fat, body fat percentage, through applying a body impedance analyzer, and others were recorded.ResultsThe mean ages at the onset of puberty for females and males in our study were 10.29 ± 1.1 and 11.34 ± 1.02 years, respectively. Pubic hair (stage PH2) was attained at mean age of 10.72 ± 0.84 and 11.98 ± 1.03 years for females and males, respectively. For axillary hair (stage AH2), the mean age was 12.47 ± 0.68 years for females and 13.8 ± 0.58 years for males. The mean age at menarche was 12.41 ± 0.65 years. In concordance to BM fat and percentage, all pubertal stages started earlier in females with BMI ≥85th percentile comparable to females within average BMI. As for males, no significant relation was noted between mean pubertal ages and BMI values.ConclusionsA significant association of mean ages of Tanner stages to excess weight especially in females warranted the increasing awareness about health care, nutritional aspects, and living circumstances.

Background: Genetic variations of the FTO gene were associated with obesity and type 2 diabetes determinants in the European population, notably raised blood levels of insulin and glucose. Objective: The aim of this study was to test the association of FTOrs17817449 with obesity/BMI and type 2 diabetes risk among obese Egyptian population. Materials and Methods: In this case-control study, (PCR-RFLP assay) was used for genotyping FTOrs17817449polymorphism (SNP) in 120 obese children and 120 controls conducted from attendants of genetic & endocrinology Unit and outpatient clinics, Pediatric Department, Faculty of Medicine, Menoufia University Hospitals. In combination with anthropometric measurements of obesity, predisposition to T2D risk was analyzed (fasting insulin, fasting glucose, insulin resistance). Results: Consanguinity was evident in 32.5% of cases. Positive family history of both obesity and T2D was found to be significant statistically (p<0.05). FTO rs17817449G allele was positively associated with WC (Waist Circumference) (Mean ± SD 84.1 ± 9. 3), raised BMI (Body Mass Index) (32.7 ± 3.5), fasting glucose (114.1 ± 12.8mg/dl), fasting insulin (7.2 ± 1.2µU/ml) and insulin resistance (61.1% of cases) (p<0.001). : The odds ratio of obesity was 1.75(95%CI 1.02-3.02) for GT and GG genotype. Fasting glucose and fasting insulin showed statistically significant risk for T2D in the obese group. Conclusion: Genetic variation in FTOrs17817449(G allele) was definitely associated with raised BMI, BMI z-score and fasting insulin, and lowered QUICKI values, that predicted the risk for type 2 diabetes among obese children harboring the mutant G allele.

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Background Type 1 diabetes mellitus (T1D) results from environmental and genetic factors. We aimed to investigate the distribution of PTPN22, IL2RA rs11594656, and rs2104286 variants and its association with T1D in children. A case-control study conducted on 100 diabetic patients and 100 control children. PTPN22 gene, IL2RA rs11594656, and rs2104286 polymorphisms study were done by PCR followed by restriction fragment length polymorphism (RFLP) assay. Results T allele of PTPN22 gene was presented more frequently 47% in patient group versus 30% in controls, while C allele was 53% in the diabetic group versus 70% in controls showing a statistically significant difference between patient and control groups. Similarly, TT 1858 genotype was found in higher frequency with a statistically significant difference in favor of T1D patients (p = 0.038), OR (CI 95% 3.16 (1.28–7.09). For IL2RA rs11594656 polymorphism, the frequency of TT, TA, and AA in patients at percentages of 20%, 60%, and 20% versus 4%, 60%, and 36% in controls respectively showed significant difference (p = 0.045). Also, T allele was detected more in patients group as evidenced by p = 0.059, OR (95% CI) of 2.38(1.49–6.12). Whereas, IL2RA rs2104286 polymorphism revealed a difference of otherwise non-statistical significance (p = 0.091). Those who harbored homozygous pattern of both IL2RA polymorphisms frequently had DKA and high mean HbA1C values. Conclusion PTPN22 (C1858T) and IL2RA rs11594656 polymorphisms increased the risk of T1DM development, while IL2RA rs2104286 polymorphism did not display any significant association among children with T1D. Having more than one risk allele could affect progression and control of T1D.