Several Polymorphisms of KCNQ1 Gene Are Associated with Plasma Lipid Levels in General Chinese Populations

Chen, Xing-dong; Yang, Yajun; Li, Shuyuan; Peng, Qianqian; Zheng, Lijuan; Jin, Li; Wang, Xiaofeng

doi:10.1371/journal.pone.0034229

Cited by 17 publications

(22 citation statements)

References 31 publications

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“…The variants (rs2074196, rs2237892, rs2237895, and rs2237897) are significantly associated with impaired FBG [25] and reduced insulin release following an oral glucose load [26] . Other studies have indicated that KCNQ1 is associated with obesity [16] and triglyceride levels [27] in Chinese Han populations. Polymorphisms in the KCNQ1 gene were reportedly related with the therapeutic efficacy of repaglinide in treating Chinese patients with T2DM [28] .…”

Section: Discussionmentioning

confidence: 95%

Variant rs2237892 of KCNQ1 is Potentially Associated with Hypertension and Macrovascular Complications in Type 2 Diabetes Mellitus in a Chinese Han Population

Zhang

Wang

Guan

et al. 2015

Genomics, Proteomics &Amp; Bioinformatics

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KCNQ1 has been identified as a susceptibility gene of type 2 diabetes mellitus (T2DM) in Asian populations through genome-wide association studies. However, studies on the association between gene polymorphism of KCNQ1 and T2DM complications remain unclear. To further analyze the association between different alleles at the single nucleotide polymorphism (SNP) rs2237892 within KCNQ1 and TD2M and its complications, we conducted a case-control study in a Chinese Han population. The C allele of rs2237892 variant contributed to susceptibility to T2DM (odds ratio [OR], 1.45; 95% confidence interval [CI], 1.20–1.75). Genotypes CT (OR, 1.97; 95% CI, 1.24–3.15) and CC (OR, 2.49; 95% CI, 1.57–3.95) were associated with an increased risk of T2DM. Multivariate regression analysis was performed with adjustment of age, gender, and body mass index. We found that systolic blood pressure (P = 0.015), prevalence of hypertension (P = 0.037), and risk of macrovascular disease (OR, 2.10; CI, 1.00–4.45) were significantly higher in subjects with the CC genotype than in the combined population with genotype either CT or TT. Therefore, our data support that KCNQ1 is associated with an increased risk for T2DM and might contribute to the higher incidence of hypertension and macrovascular complications in patients with T2DM carrying the risk allele C though it needs further to be confirmed in a larger population.

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Section: Discussionmentioning

confidence: 95%

Variant rs2237892 of KCNQ1 is Potentially Associated with Hypertension and Macrovascular Complications in Type 2 Diabetes Mellitus in a Chinese Han Population

Zhang

Wang

Guan

et al. 2015

Genomics, Proteomics &Amp; Bioinformatics

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“…The possibility of some of these variants acting in concert may predispose individuals to arrhythmias in the presence of appropriate precipitating factors. Mutations associated with JLN syndrome were also reported in Chinese families and other populations [19] , [20] , [21] , [22] , [23] .…”

Section: Discussionmentioning

confidence: 76%

Genotype–phenotype correlation in long QT syndrome families

Qureshi

Ali

Ananthapur

et al. 2015

Indian Pacing and Electrophysiology Journal

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Heterogeneity in clinical manifestations is a well-known feature in Long QT Syndrome (LQTS). The extent of this phenomenon became evident in families wherein both symptomatic and asymptomatic family members are reported. The study hence warrants genetic testing and/or screening of family members of LQTS probands for risk stratification and prediction.Of the 46 families screened, 18 probands revealed novel variations/compound heterozygosity in the gene/s screened. Families 1–4 revealed probands carrying novel variations in KCNQ1 gene along with compound heterozygosity of risk genotypes of the SCN5A, KCNE1 and NPPA gene/s polymorphisms screened. It was also observed that families- 5, 6 and 7 were typical cases of “anticipation” in which both mother and child were diagnosed with congenital LQTS (cLQTS). Families- 16 and 17 represented aLQTS probands with variations in IKs and INa encoding genes. First degree relatives (FDRs) carrying the same haplotype as the proband were also identified which may help in predictive testing and management of LQTS. Most of the probands exhibiting a family history were found to be genetic compounds which clearly points to the role of cardiac genes and their modifiers in a recessive fashion in LQTS manifestation.

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“…The KCNQ1 SNP contributes to diabetes and the therapeutic effects of dipeptidyl peptidase‐4 (DPP‐4) inhibitors . KCNQ1 is also associated with the early onset of alcohol dependence and elevated plasma lipid levels . In addition, the KCNQ1 genotype TT was significantly linked to decreased serum triglyceride levels .…”

Section: Discussionmentioning

confidence: 99%

“…28 KCNQ1 is also associated with the early onset of alcohol dependence [29][30][31] and elevated plasma lipid levels. 32 In addition, the KCNQ1 genotype TT was significantly linked to decreased serum triglyceride levels. 32 Therefore, we speculated that KCNQ1 accumulates inside hepatocytes and contributes to disease progression.…”

Section: Discussionmentioning

confidence: 99%

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Differences in the genetic backgrounds of patients with alcoholic liver disease and non‐alcoholic fatty liver disease

et al. 2018

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Background and Aim Alcoholic liver disease (ALD) and non‐alcoholic fatty liver disease (NAFLD) have common hepatic histological features, but few studies have compared the genomic backgrounds of these two diseases. Here, we compared the genetic differences between ALD and NAFLD. Methods This study enrolled 318 Japanese patients with ALD ( n = 118; male, 86%; median age, 62 years; liver cirrhosis, 58%; hepatocellular carcinoma [HCC], 31%) and NAFLD ( n = 200; male, 55%; age, 61 years; cirrhosis, 19%; HCC, 12%). The genotype frequencies of 10 single nucleotide polymorphisms (SNPs) were analyzed. Results The ADH1B genotype GG and ALDH2 genotype GG were observed more frequently, and the percentage of patients with the MTP genotype GG was lower in ALD compared with NAFLD patients ( ADH1B , 16 vs 4%; ALDH2 84 vs 44%; MTP 62 vs 72%, respectively; all P < 0.01). Comparing noncirrhosis to cirrhosis, the frequency of the potassium voltage‐gated channel subfamily Q member 1 ( KCNQ1 ) genotype TT and adrenoceptor beta 3 ( ADRB3 ) genotype TT was increased significantly in ALD‐related cirrhosis. In contrast, the patatin‐like phospholipase 3 ( PNPLA3 ) genotype CC was decreased significantly in NAFLD‐related cirrhosis. A comparison of patients with and without HCC demonstrated that the KCNQ1 genotype TT was increased significantly in both HCC groups. In addition, associations between the KCNJ15 genotype GG and ALD‐HCC and the G allele of PNPLA3 and NAFLD‐HCC were identified. Conclusions SNPs in genes related to ethanol and lipid metabolism clearly differed between patients with ALD and NAFLD. KCNQ1 might affect the progression and hepatocarcinogenesis in both ALD and NAFLD.

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Several Polymorphisms of KCNQ1 Gene Are Associated with Plasma Lipid Levels in General Chinese Populations

Cited by 17 publications

References 31 publications

Variant rs2237892 of KCNQ1 is Potentially Associated with Hypertension and Macrovascular Complications in Type 2 Diabetes Mellitus in a Chinese Han Population

Variant rs2237892 of KCNQ1 is Potentially Associated with Hypertension and Macrovascular Complications in Type 2 Diabetes Mellitus in a Chinese Han Population

Genotype–phenotype correlation in long QT syndrome families

Differences in the genetic backgrounds of patients with alcoholic liver disease and non‐alcoholic fatty liver disease

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