Dataset Information

Genotype Distribution of CNDP1 Polymorphisms in the Healthy Chinese Han Population: Association with HbA1c and Fasting Blood Glucose.

ABSTRACT: We have previously reported that the CNDP1 (CTG)5 allele affords protection against diabetic nephropathy (DN) in patients with Type 2 diabetes (T2DM) of Caucasian origin. Because the incidence of ESRD attributable to both Type 1 diabetes (T1DM) and T2DM is higher among South Asian than Caucasian people, the present study assessed relevant CNDP1 polymorphisms and their association with metabolic parameters in the Chinese Han population. To this end, the (CTG)n allele distribution along with 5 relevant SNPs in the CNDP1 gene, previously reported to be associated with DN in non (CTG)5 carriers of Afro-American ethnicity, were determined in 663 healthy individuals. The (CTG)6 homozygous genotype was the most prevalent (84.5%) genotype in the Chinese Han population. The (CTG)5 and (CTG)4 alleles were present in a small minority of individuals accounting for 15.2% and 0.3% of genotypes with at least one (CTG)5 or one (CTG)4 allele, respectively. Only 0.5% of individuals carried the homozygous (CTG)5 genotype and individuals carrying the homozygous (CTG)4 genotype were not found. The minor allele frequencies (MAFs) of the 5 SNP were 0.197 (C allele for rs4892247), 0.0855 (C allele for rs62099905), 0.085 (G allele for rs62099906), 0.066 (T allele for rs62099907), and 0.18 (A allele for rs72979715). All the SNPs except rs4892247 genotypes were in the Hardy-Weinberg equilibrium. Neither the (CTG)n polymorphism nor the latter three SNPs reached significance when compared with different metabolic parameters. In contrast, individuals with the TT genotype of rs62099905 presented lower fasting blood glucose but higher HbA1c levels. In conclusion, the rs62099905 in the CNDP1 gene is associated with serum glucose levels in the healthy Chinese Han population, while for the CNDP1 (CTG)n polymorphism, no association with serological parameters was found.

SUBMITTER: Zhang S

PROVIDER: S-EPMC7383329 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Genotype Distribution of CNDP1 Polymorphisms in the Healthy Chinese Han Population: Association with HbA1c and Fasting Blood Glucose.

Zhang Shiqi S Xu Juan J Cui Di D Jiang Shujuan S Xu Xin X Zhang Yi Y Zhu Dongchun D Xia Li L Yard Benito B Wu Yonggui Y Zhang Qiu Q

Journal of diabetes research 20200718

We have previously reported that the CNDP1 (CTG)5 allele affords protection against diabetic nephropathy (DN) in patients with Type 2 diabetes (T2DM) of Caucasian origin. Because the incidence of ESRD attributable to both Type 1 diabetes (T1DM) and T2DM is higher among South Asian than Caucasian people, the present study assessed relevant CNDP1 polymorphisms and their association with metabolic parameters in the Chinese Han population. To this end, the (CTG)n ...[more]

PMID: 32733966

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Project description:The prevalence of diabetes in Singapore is high. Screening to facilitate early detection and intervention has been shown to be cost-effective. Current clinical practice guidelines in Singapore recommend screening with fasting plasma glucose (FPG), followed by an oral glucose tolerance test (OGTT) in those with FPG 6.1-6.9?mmol/L. Glycated haemoglobin A1c (HbA1c) has robust stability at ambient temperature, and can be performed on non-fasted capillary blood samples, making it an attractive potential alternative for screening. However, limitations of HbA1c include differential performance in different races, and its performance as a screening test has not been well characterized in Asian populations. This study compares HbA1c and FPG as diabetes screening modalities in 3540 community-dwelling Singapore residents of Chinese, Malay and Indian race to detect diabetes mellitus diagnosed based on blood glucose (FPG???7.0?mmol/L, 2?hr OGTT???11.1?mmol/L). The area under the receiver-operating-characteristic curve (AUC) was higher for FPG compared to HbA1c in the overall population and age, race and age-race strata, but these differences were not statistically significant. HbA1c >?=?7.0% identified 95% of individuals with diabetes mellitus, and the remainder had impaired glucose tolerance (IGT). HbA1c cut-off at 6.1% had better sensitivity (0.825) to FPG at 6.1?mmol/L. The positive predictive value of HbA1c at 6.1% was 40-50% in different age-race combinations with a negative predictive value of about 98%. If follow-up screening with FPG is used, a lower cut-off at 5.6?mmol/L is appropriate in identifying people with pre-diabetes, as about 85% of people with HbA1c 6.1-6.9% and FPG 5.6-6.9?mmol/L had IFG/IGT or diabetes in the study sample. HbA1c is an appropriate alternative to FPG as a first-step screening test, and the combination of Hba1c?>?=?6.1% and FPG?>?=?5.6?mmol/L would improve the identification of individuals with diabetes mellitus and prediabetes.

Project description:AimsThe dopamine- and cAMP-regulated phosphoprotein (DARPP-32), which is encoded by the PPP1R1B gene, plays a converging regulatory role in the central nervous system by mediating the actions of dopamine, serotonin, and glutamate. Previous studies have demonstrated that variations in genes related to the dopamine system influence working memory. The present study thus investigated whether polymorphisms in PPP1R1B gene were associated with working memory.Materials and methodsA sample of 124 healthy Han Chinese were genotyped for three single nucleotide polymorphisms of PPP1R1B gene, namely rs12601930C/T, rs879606A/G, and rs3764352A/G, using polymerase chain reaction and restriction fragment length polymorphism analysis. Working memory performance was assessed using the Wisconsin Card Sorting Test (WCST).ResultsSignificant differences were observed in the Total Correct (TC), Total Errors (TE), and Conceptual Level Responses (CLR) scores of the WCST among the three rs12601930C/T genotypes (p = 0.044, 0.044, and 0.047, respectively); in TC, TE, Non-Perseverative Errors (NPE), and CLR scores between participants with the CC and (CT + TT) rs12601930C/T polymorphism genotypes (p = 0.032, 0.032, 0.019, and 0.029, respectively); in TC, TE, Perseverative Errors (PE), NPE, and CLR scores between participants with the (CT + CC) and TT rs12601930C/T polymorphism genotypes (p = 0.001, 0.001, 0.011, 0.004, and 0.001, respectively); and in NPE and CLR scores between participants with the GG and (AG + AA) genotypes of the rs3764352A/G polymorphism (p = 0.011 and 0.010). Furthermore, for males only, there were significant differences in TC, TE, PE, NPE, and CLR scores among the rs12601930C/T genotypes (p = 0.020, 0.020, 0.037, 0.029, and 0.014, respectively) and NPE and CLR scores among the rs3764352 genotypes (p = 0.045 and 0.042).ConclusionPPP1R1B gene polymorphisms rs12601930C/T and rs3764352A/G might be associated with working memory assessed by the WCST in healthy Chinese adults, especially among males.

Dataset Information

Genotype Distribution of CNDP1 Polymorphisms in the Healthy Chinese Han Population: Association with HbA1c and Fasting Blood Glucose.

Publications

Genotype Distribution of <i>CNDP1</i> Polymorphisms in the Healthy Chinese Han Population: Association with HbA1c and Fasting Blood Glucose.

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