scholarly journals Association between ABC family variants rs1800977, rs4149313, and rs1128503 and susceptibility to type 2 diabetes in a Chinese Han population

2020 ◽  
Vol 48 (8) ◽  
pp. 030006052094134
Author(s):  
Ruicheng Yan ◽  
Jianfei Luo ◽  
Xiaobo He ◽  
Shijun Li

Objective To investigate the association between three single nucleotide polymorphisms (SNPs) of the ATP-binding cassette (ABC) gene family and susceptibility to type 2 diabetes mellitus in a Chinese Han population. Methods A total of 1086 type 2 diabetes patients and 1122 healthy controls were included in this retrospective study. Three genetic variants, rs1800977 and rs4149313 in ABCA1, and rs1128503 in ABCB1 were included in the study. Susceptibility to type 2 diabetes was evaluated under three genetic models. Results A significant association between rs1800977 and type 2 diabetes was identified in three different genetic models (TT vs CC, odds ratio [OR] = 0.611 [95% confidence interval (CI), 0.469–0.798]; T vs C, OR = 0.841 [95% CI, 0.745–0.950]; and the recessive model, OR = 0.606 [95% CI, 0.474–0.774]). Additionally, a significant association between rs4149313 and type 2 diabetes was identified in three different genetic models (AA vs GG, OR = 0.467 [95% CI, 0.326–0.670]; A vs G, OR = 0.819 [95% CI, 0.717–0.935]; and the recessive model, OR = 0.478 [95% CI, 0.336–0.680]). Conclusion We found that SNPs rs1800977 and rs4149313 in ABCA1 are significantly associated with susceptibility to type 2 diabetes in a Chinese population, although this should be confirmed in a larger study.

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Shanshan Tang ◽  
Rong Zhang ◽  
Weihui Yu ◽  
Feng Jiang ◽  
Jie Wang ◽  
...  

BMP4is one of the transforming growth factor-βsuperfamily, which can participate in adipogenesis. Gene encodingBMP4is acknowledged as a convincing candidate that may contribute to both glucose and lipid metabolism. In this paper, we aimed to test the impacts ofBMP4variants on type 2 diabetes in a large sample of Chinese population. We genotyped 10 tagging single nucleotide polymorphisms within theBMP4region in 6822 participants and acquired detailed clinical investigations and biochemistry measurements. We found thatBMP4rs8014363 showed nominal association towards type 2 diabetes, with the T allele conferring a high risk of type 2 diabetes (OR=1.108, 95%CI 0.999–1.229,P=0.051for allele;OR=1.110, 95%CI 1.000–1.231,P=0.050for genotype), but it was no longer statistically significant after adjusting for multiple testing (empiricalP=0.3689for allele based on 10,000 permutations). Moreover, we observed a significant association of rs8014363 with triglyceride level and a trend towards association with high-density lipoprotein cholesterol after adjusting for age, gender, and BMI (P=0.035and 0.068, resp.). Our data suggested that the genetic variants ofBMP4may not play a dominant role in glucose metabolism in Chinese Han population, but a minor effect cannot be ignored.


2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Lin Wang ◽  
Lin Guo ◽  
Fengde Tian ◽  
Ruihu Hao ◽  
Tiejun Yang

Objective. Osteoarthritis (OA) is a complex arthritic condition in which the genetic factor plays a major role. One of the candidate genes of is the ADAM12 gene, but no consistency has been reached till now. This study aims to investigate the potential role of four single nucleotide polymorphisms (SNPs) of the ADAM12 gene in susceptibility to knee OA and its progression in Chinese Han population.Methods. The rs1278279, rs3740199, rs1044122, and rs1871054 polymorphisms were genotyped and compared in a population based cohort consisting of 164 OA subjects and 200 age- and gender-matched controls.Results. The SNP rs1871054 was found with increased risk of OA susceptibility in comparing the genotype frequencies between the case and control groups no matter for which model of comparison (allele level, dominant model, recessive model, and extreme genotype model). Additionally, the SNP rs1871054 was found associated with increased OA severity according to the K/L grade.Conclusion. In summary, we have identified that the rs1871054 variant within the ADAM12 gene is a risk factor for increased osteoarthritis susceptibility and severity.


2020 ◽  
Vol 20 (6) ◽  
pp. 408-414
Author(s):  
Haibing Yu ◽  
Shu Wang ◽  
Wei Hu ◽  
Lin Xu ◽  
Yuanlin Ding ◽  
...  

Objective: To investigate the relationship between genetic polymorphisms of RXRG rs1467664, rs3753898 and the genetic susceptibility of type 2 diabetes in the Chinese Han population from South China. Methods: In our case-control study, single-nucleotide polymorphisms (SNPs) rs1467664 and rs3753898 were genotyped by SNPscanTM kit in 1092 patients with T2D as cases and 1092 normal persons as controls. The distributions of genotype and allele frequencies in two groups were analyzed by the SPSS 20.0 software. Results: The distribution of genotypes and alleles of RXRG rs3753898 was statistically significant between the two groups, but there was no significant difference in the distribution of genotypes and alleles of the rs1467664. Before and after the adjustment of age, sex and BMI, rs3753898 in the two groups had statistical significance under the additive, dominant and recessive models (P<0.05), but no statistical differences were found under the overdominance and co-dominant genetic models (P>0.05). There was no significant difference in the genetic models of rs1467664 between the two groups (P>0.05). The haplotype, which consists of rs1467664 allele T and rs3753898 allele A was a high-risk factor for T2D, OR=1.27, 95% CI (1.09-1.47), Padj=0.002. Conclusion: Our results showed that the single nucleotide polymorphism of RXRG rs3753898 may be related to genetic susceptibility of type 2 diabetes. The haplotype consisting of the allele T of rs1467664 and the allele A of rs3753898 is a risk factor for type 2 diabetes, suggesting that the genetic variation of RXRG gene may be the genetic cause of diabetes mellitus in the Chinese Han population.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Jiaqi Cui ◽  
Rui Tong ◽  
Jing Xu ◽  
Yanni Tian ◽  
Juan Pan ◽  
...  

Abstract Background Evidence from genetic epidemiology indicates that type 2 diabetes (T2D) has a strong genetic basis. Activated STAT4 has an inflammatory effect, and STAT4 is an important mediator of inflammation in diabetes. Our study aimed to study the association between STAT4 single nucleotide polymorphisms (SNPs) and T2D susceptibility in Chinese Han population. Methods We conducted a 'case–control' study among 500 T2D patients and 501 healthy individuals. 5 candidate STAT4 SNPs were successfully genotyped. The association between SNPs and T2D susceptibility under different genetic models was evaluated by logistic regression analysis. ‘SNP-SNP’ interaction was analyzed and completed by multi-factor dimensionality reduction (MDR). Finally, we evaluated the differences of clinical characteristics under different genotypes by one-factor analysis of variance. Results The overall results showed that STAT4 rs3821236 was associated with increasing T2D risk under allele (OR 1.23, p = 0.020), homozygous (OR 1.51, p = 0.025), dominant (OR 1.36, p = 0.029), and additive models (OR 1.23, p = 0.020). The results of stratified analysis showed that rs3821236, rs11893432, and rs11889341 were risk factors for T2D among participants ≤ 60 years old. Only rs11893432 was associated with increased T2D risk among female participants. There was also a potential association between rs3821236 and T2D with nephropathy risk. STAT4 rs11893432, rs7574865 and rs897200 were significantly associated with lysophosphatidic acid, cystatin C and thyroxine t4, respectively. Conclusion The genetic polymorphisms of STAT4 is potentially associated with T2D susceptibility of Chinese population. In particular, rs3821236 is significantly associated with T2D risk both in the overall and several subgroup analyses. Our study may provide new ideas for T2D individualized diagnosis/protection.


2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Pei Yu ◽  
Siyu Hao ◽  
Hewei Zheng ◽  
Xueying Zhao ◽  
Yuzhen Li

Aim. To clarify the association between the single nucleotide polymorphisms (SNPs) in the NLRP1 and NLRP3 and Psoriasis Vulgaris (PsV) in the Chinese Han population. Methods. We genotyped eight SNPs, four from NLRP1 (rs8079034, rs11651270, rs11657747, and rs878329) and NLRP3 (rs7512998, rs3806265, rs10754557, and rs10733113) each in 540 patients with PsV and 612 healthy controls in the Chinese Han population using an improved multiplexed ligation detection reaction (iMLDR) method. The genotype and haplotype frequencies were analyzed using a case-control study design. Results. We identified two SNPs, rs3806265 and rs10754557, in NLRP3 that were significantly associated with PsV. The genotype distribution of the rs3806265 SNP was significantly different between cases and controls (p=0.0451; OR = 0.791; 95% CI = 0.627–0.998). In the recessive model, the genotype distribution of the rs10754557 SNP was significantly different between cases and controls (p=0.0344; OR = 1.277; 95% CI = 0.987–1.652). The haplotype analysis of rs3806265 and rs10754557 also presented a significant association of TA haplotype with PsV (χ2=4.529; p=0.033). Conclusion. NLRP3 may play a role in PsV susceptibility in the Chinese Han population.


2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Haibing Yu ◽  
Xuyun Xu ◽  
Jialu Huang ◽  
Jian Xu ◽  
Hao Liu ◽  
...  

Background. The aim of this study was to investigate the association between single nucleotide polymorphism (SNP) rs9891119 of the signal transducer and activator of the transcription 3 (STAT3) gene and genetic susceptibility to type 2 diabetes in Chinese Han population from the Guangdong province. Objective. The aim of the present study was to explore the relationship between single nucleotide polymorphism rs9891119 of STAT3 gene and type 2 diabetes mellitus (T2DM), which provides a basis for molecular genetic research on the pathogenesis of T2DM in Chinese Han population. Methods. In our case-control study, the SNP rs9891119 was picked out from the STAT3 gene and the SNP genotyping was performed by using the SNPscan™ kit in 1092 patients with type 2 diabetes as cases and 1092 normal persons as controls. The distributions of genotype and allele frequencies in two groups were analyzed by SPSS 20.0 software. Results. Our results showed that the alleles of A and C of rs9891119 of the STAT3 gene were 54.3 and 45.7% in patients with type 2 diabetes, while 55.5% and 44.5% in the normal persons, which have no statistical significance P > 0.05 . There were also no significant differences in AA, AC, and CC genotype frequencies between type 2 diabetes patients and normal persons. There were no significant differences in codominant, dominant, recessive, and overdominant genetic models of SNP rs9891119 before and after adjusting the covariant factors P > 0.05 . Conclusions. Therefore, genetic susceptibility to type 2 diabetes may be not associated with SNP rs9891119 of the STAT3 gene in Chinese Han population from the Guangdong province.


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