Dataset Information

Association between Polymorphisms and Haplotype in the ABCA1 Gene and Overweight/Obesity Patients in the Uyghur Population of China.

ABSTRACT: This study aimed to detect the association between polymorphisms and haplotype in the ATP-binding cassette transporter A1 (ABCA1) gene and overweight/obese Uyghur patients in China.A total of 259 overweight/obese patients and 276 normal weight subjects, which were randomly selected from among 3049 adult Uyghurs, were matched for age. We genotyped ABCA1 single nucleotide polymorphisms of rs2515602, rs3890182, rs2275542, rs2230806, rs1800976, and rs4149313.(1) The genotypic and allelic frequencies of rs2515602 and rs4149313 differed between the control group and case group. The genotypic frequency of rs2275542 also differed between the control group and case group (p < 0.05); (2) rs2515602, rs2230806, and rs4149313 polymorphisms were significantly related to risk of overweight/obese; (3) a significant linkage disequilibrium (LD) was observed between the ABCA1 gene rs2275542 with rs3890182 and rs2515602 with rs4149313. (4) the C-C-C-A-G-G, T-C-G-A-G-G, and T-T-G-G-G-A haplotypes were significant in normal weight and overweight/obese subjects (p < 0.05); (5) the levels of HDL-C (rs2515602, rs2275542, rs4149313) in normal weight subjects were different among the genotypes (p < 0.05); the levels of TC, LDL-C and TG (rs1800976) in overweight/obese subjects were different among the genotypes (p < 0.05).The rs2515602, rs4149313, and rs2275542 polymorphisms were associated with overweight/obese conditions among Uyghurs. Strong LD was noted between rs2275542 with rs3890182 and rs2515602 with rs4149313. The C-C-C-A-G-G and T-C-G-A-G-G haplotypes may serve as risk factors of overweight/obesity among Uyghurs. The T-T-G-G-G-A haplotype may serve as a protective factor of overweight/obesity among Uyghurs. Rs2515602, rs2275542, rs4149313, and rs1800976 polymorphisms in the ABCA1 gene may influence lipid profiles.

SUBMITTER: Yao MH

PROVIDER: S-EPMC4772240 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature

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Publications

Association between Polymorphisms and Haplotype in the ABCA1 Gene and Overweight/Obesity Patients in the Uyghur Population of China.

Yao Ming-Hong MH He Jia J Ma Ru-Lin RL Ding Yu-Song YS Guo Heng H Yan Yi-Zhong YZ Zhang Jing-Yu JY Liu Jia-Ming JM Zhang Mei M Rui Dong-Shen DS Niu Qiang Q Guo Shu-Xia SX

International journal of environmental research and public health 20160215 2

<h4>Objective</h4>This study aimed to detect the association between polymorphisms and haplotype in the ATP-binding cassette transporter A1 (ABCA1) gene and overweight/obese Uyghur patients in China.<h4>Methods</h4>A total of 259 overweight/obese patients and 276 normal weight subjects, which were randomly selected from among 3049 adult Uyghurs, were matched for age. We genotyped ABCA1 single nucleotide polymorphisms of rs2515602, rs3890182, rs2275542, rs2230806, rs1800976, and rs4149313.<h4>Res ...[more]

PMID: 26891315

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Project description:To explore the association between CETP gene polymorphisms and metabolic syndrome (MS), as well as the relationship between the CETP gene polymorphisms and each component of MS.A total of 571 individuals which were randomly selected from 5692 Uyghur adults were subdivided into two groups, including 280 patients with MS and 291 control subjects, using the group-matching method after matching for gender. We detected CETP polymorphisms (rs5882, rs1800775, rs3764261, rs12149545, rs711752, and rs708272) by using the Snapshot method.(1) Significant differences were found involving the frequency distribution of genotypes and alleles of rs1800775, rs3764261, rs12149545, rs711752, and rs708272 between the control and MS groups (all p < 0.05). (2) rs1800775, rs3764261, rs12149545, rs711752, and rs708272 polymorphisms were significantly related to the risk of MS (all p < 0.05). (3) The rs1800775 polymorphism was associated with high fasting blood glucose levels and low high density lipoprotein cholesterol (HDL-C); rs3764261 and rs12149545 polymorphisms were associated with all components of MS except high blood pressure; rs711752 and rs708272 polymorphisms were associated with low HDL-C (all p < 0.05). (4) Complete linkage disequilibrium (LD) was identified for two pairs of single nucleotide polymorphisms (SNPs) (rs3764261 and rs12149545 (D' = 1.000, r² = 0.931), rs711752 and rs708272 (D' = 1.000, r² = 0.996)). (5) The A-G-G-G-C (p = 0.013, odds ratio [OR] = 0.622, 95% confidence interval [95% CI] = 0.427-0.906) and A-T-A-A-T (p < 0.001, OR = 0.519, 95% CI = 0.386-0.697) haplotypes were more frequent in the control group than in the case group. Conclusions: The rs1800775, rs3764261, rs12149545, rs711752, and rs708272 polymorphisms of CETP were associated with MS and its components among the Uyghur ethnic group. Complete LD was found between two pairs of SNPs (rs3764261 and rs12149545, rs711752, and rs708272). The A-G-G-G-C and A-T-A-A-T haplotypes might be protective factors for MS.

Project description:Studies have showed a number of susceptibility genes variants such as transcription factor 7-like 2 (TCF7L2), potassium voltage-gated channel subfamily Q member 1 (KCNQ1), juxtaposed with another zinc finger protein 1 (JAZF1) and HNF1 homeobox B (HNF1B) been strongly associated with type 2 diabetes (T2D) in various ethnic groups. However, few studies have conducted in Uyghur, a Chinese minority ethnic group as an admixture population of Caucasians and East Asians. This study was performed to evaluate the association of genetic polymorphism with T2D susceptibility in the Uyghur population. The genomic samples from the blood of unrelated 284 T2D patients and 258 healthy controls were genotyped and analyzed using denaturing high performance liquid chromatography (DHPLC) assay. We found that four SNPs (rs290487, rs864745, rs4430796 and rs23136) in TCF7L2, JAZF1, HNF1B and KCNQ1 genetic regions show unique association with T2D in Uyghur population with an OR of 6.67295% (CI 1.06-1.48, P=0.002), an OR of 0.302 (CI 1.21-1.53, P=0.005) and an OR of 0.223 (CI 0.98-1.17, P=0.001), respectively. Subjects with mutant CC genotype of rs290487 were at high increased risk of T2D in Uyghur especially for the male subjects with an OR=11.782 (CI 1.12-1.53, P=0.001). Further metabolic evaluation confirmed that subject with rs290487 genotype have higher waste-hip circumference ratio (P<0.05), diastolic blood pressure (P<0.05), fasting blood glucose (P<0.05) and hemoglobin A1c levels (P<0.05). While mutant AA genotype for rs23136 (OR=0.223, CI 1.03-1.44, P=0.002) respectively were a protective factor in the Uyghur population. The rs231362 have also found been associated with fasting blood glucose and high-density lipoprotein respectively (P<0.05). However, none of the genotypes showed the significant association with T2D in local Han Chinese population. Taken together, we confirmed the rs290487, rs231362 and rs4430796 transcription variants may act as genetic risk factors for the development of T2D in the Uyghur population in China and these results might provide supporting evidences for T2D diagnosis for Uyghur people in the future.

Project description:The fyn-related kinase (FRK) belongs to the tyrosine kinase family of protein kinases. Recent studies have shown that Frk affects pancreatic beta cell number during embryogenesis and promotes beta cell cytotoxic signals in response to streptozotocin. To investigate the genetic association between FRK polymorphisms and the risk of obesity in Korean population, single nucleotide polymorphisms (SNPs) in the FRK gene region were selected and analyzed. The body mass index (BMI) was calculated, and biochemical data (systolic blood pressure, diastolic blood pressure, hemoglobin A1C, triglyceride, total cholesterol, high density lipoprotein, and low density lipoprotein) of blood sample from each subject were also measured. One hundred fifty five healthy control and 204 overweight/obesity subjects were recruited. Genotype frequencies of six SNPs [rs6568920 (+8391G>A), rs3756772 (+56780A>G), rs3798234 (+75687C>T), rs9384970 (+68506G>A), rs1933739 (+72978G>A), and rs9400883 (+75809A>G)] in the FRK gene were determined by Affymetrix Targeted Genotyping Chip data. According to the classification of Korean Society for the Study of Obesity, control (BMI 18 to <23) and overweight/obesity (BMI>/=23) subjects were recruited. For the analysis of genetic data, EM algorithm, SNPStats, Haploview, HapAnalyzer, SNPAnalyzer, and Helixtree programs were used. Multiple logistic regression analysis (codominant, dominant, and recessive models) was performed. Age and gender as covariates were adjusted. For biochemical data, Student's t test was used. The mean value of BMI in the control and overweigh/obesity groups was 21.1+/-1.2 (mean+/-SD) and 25.6+/-2.0, respectively. All biochemical data of the overweight/obesity group were statistically significance, compared with the control group. Among six SNPs, two linkage disequilibrium (LD) blocks were discovered. One block consisted of rs1933739 and rs9400883, and the other comprised rs3756772 and rs3798234. One SNP (rs9384970, +68506G>A) showed an association with overweight/obesity in the codominant model (p=0.03). Interestingly, the AA genotype distribution in the overweight/obesity group (n=7, 3.5%) was higher than those in the control group (n=1, 0.6%), which is not found in either Japanese or Chinese subjects. Therefore, the AA genotype of rs9384970 may be a risk factor for development of obesity in Korean population. The results suggest that FRK may be associated with overweight/obesity in Korean population.

Dataset Information

Association between Polymorphisms and Haplotype in the ABCA1 Gene and Overweight/Obesity Patients in the Uyghur Population of China.

Publications

Association between Polymorphisms and Haplotype in the ABCA1 Gene and Overweight/Obesity Patients in the Uyghur Population of China.

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