TT Genotype Subjects Research Articles

#4713 TUMOR NECROSIS FACTOR RECEPTOR 2 POLYMORPHISM (RS1061622) AND INFLAMMATORY RESPONSE IN END-STAGE RENAL DISEASE PATIENTS UNDER DIALYSIS

Abstract Background and Aims Enhanced levels of soluble tumor necrosis factor receptor 2 (sTNFR2) are known to associate with progressive chronic kidney disease (CKD), and is pointed as a potential biomarker for early detection of CKD; moreover, it has been reported as an independent predictor of all-cause mortality in end-stage renal disease (ESRD) patients under dialysis. Despite the increase in TNFR2 and in other inflammatory markers, recognized as risk factors for mortality in dialysis patients, the hypothesis that genetic polymorphisms of those biomarkers might modulate the inflammatory response and, thereby, the patients’ survival predisposition, has been poorly studied. Concerning TNFR2 genetic variants, a single nucleotide polymorphism in TNFR2 (+ 676 T/G; rs1061622), that results in amino acid change at position 196 (Met/Arg), was associated with higher levels of sTNFR2 in inflammatory conditions. The aim of this study was to determine the allelic frequencies of TNFR2 in ESRD patients and controls, and to evaluate its relationship with the circulating levels of inflammatory biomarkers. Method We studied 277 ESRD patients on dialysis and 32 controls, matched for gender, body mass index, and, as far as possible, for age. Real time PCR TaqMan SNP genotyping assay was used to assess allelic frequencies of TNFR2 (rs1061622). We also evaluated the circulating levels of TNF-alpha, sTNFR2, ferritin, hepcidin, elastase and cell-free DNA (cfDNA). Deaths occurring along 1-year follow-up period were recorded and mortality rates were assessed. Results ESRD patients presented higher levels of all studied biomarkers, as compared to controls; their overall mortality rate was 10.5%. Allelic frequencies in ESRD patients and controls were similar for TNFR2 (rs1061622) considering the homozygous and heterozygous individuals (χ2, p = 0.518). Concerning sTNFR2 values, no significant differences were observed between patients with genotypes TT, GG or TG. The GG genotype patients, compared to TT genotype carriers, presented significantly lower ferritin (p = 0.048), hepcidin (p = 0.038), elastase (p = 0.006) and cfDNA levels (p = 0.016); and compared to TG genotype patients, showed significantly lower ferritin (p = 0.039) and a trend towards lower values of hepcidin (p = 0.097), elastase (p = 0.079) and cfDNA (p = 0.0164). TG genotype patients showed higher TNF-alpha (p = 0.049) and a trend towards lower elastase (p = 0.081) than TT genotype subjects. The GG genotype patients presented a trend towards lower mortality rate (6.3%, 7.5%, and 12.4% for GG, TG and TT, respectively). Conclusion No differences were found in the allelic frequencies between controls and ESRD patients. The GG genotype patients for TNFR2 rs1061622 polymorphism showed decreased levels of inflammation, suggesting a more favorable inflammatory response, which is usually associated to a lower mortality risk in these patients. In accordance with the scientific community, recommending studies on genetic survival predisposition in dialysis patients, the polymorphisms of TNFR2 and of other inflammatory biomarkers deserve further studies. Acknowledgements: This work was financed by CESPU, through the project SNPsCKD-GI2-CESPU-2022; FCT, through the project UIDP/04378/2020 and UIDB/04378/2020 of the Research Unit on Applied Molecular Biosciences—UCIBIO and the project LA/P/0140/2020 of the Associate Laboratory Institute for Health and Bioeconomy—i4HB.

The Interaction between Vitamin D and Diets on Serum Lipids in Chinese Han Adolescents.

Abnormal serum lipids are closely related to cardiovascular disease. Recent studies have shown that vitamin D (VD) and vitamin D receptor (VDR) FokI polymorphism as well as dietary pattern are involved in regulating serum lipids. According to diet pattern, adolescents were divided into high-carbohydrate (high-CHO) and non-high-carbohydrate (non-high-CHO) diet group. Based on VDR FokI polymorphism, they were assigned into TT genotype and C allele carriers. Serum lipids, glucose, and 25-hydroxyvitamin D [25(OH)D] were measured. A linear regression model was established and analyzed. Subjects in the non-high-CHO diet group had higher glucose than those in the high-CHO diet group. With the increasing of VD, total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), cholesterol/high density lipoprotein cholesterol (TC/HDL-C), LDL-C/HDL-C decreased. TT genotype subjects had higher TC and HDL-C compared with C allele carriers. As for log triglycerides (TG), TC/HDL-C, logTG/HDL-C, there were interactions between the level of VD and diet pattern. Under the low VD level, subjects in the high-CHO diet group had higher logTG and logTG/HDL-C compared with those in the non-high-CHO diet group. However, under the medium and high level of VD, the results were opposite. In addition, under the low and medium level of VD, subjects in the high-CHO diet group had higher TC/HDL-C. Serum lipids are not only affected by vitamin D, VDR FokI polymorphism and dietary pattern, but also interrelated as well. The impact of diet pattern on lipids may be reversed by the high level of serum VD.

TGFβ1 single-nucleotide polymorphism C-509T alters mucosal cell function in pediatric eosinophilic esophagitis.

Eosinophilic esophagitis (EoE) is a chronic Th2 antigen driven disorder associated with tissue remodeling. Inflammation and remodeling lead to esophageal rigidity, strictures, and dysphagia. TGFβ1 drives esophageal remodeling including epithelial barrier dysfunction and subepithelial fibrosis. A functional SNP in the TGFβ1 gene that increases its transcription (C-509T) associates with elevated numbers of esophageal TGFβ1 expressing cells. We utilized esophageal biopsies and fibroblasts from TT genotype EoE children to understand if TGFβ1 influenced fibroblast and epithelial cell function in vivo. Genotype TT EoE esophageal fibroblasts had higher baseline TGFβ1, collagen1α1, periostin, and MMP-2 (p<.05) gene expression and distinct contractile properties compared with CC genotype (n=6 subjects per genotype). In vitro TGFβ1 exposure caused greater induction of target gene expression in genotype CC fibroblasts (p<.05). Esophageal biopsies from TT genotype subjects had significantly less epithelial membrane bound E-cadherin (p<.01) and wider cluster distribution at nanometer resolution. TGFβ1 treatment of stratified primary human esophageal epithelial cells and spheroids disrupted transepithelial resistance (p<.001) and E-cadherin localization (p<.0001). A TGFβ1-receptor-I inhibitor improved TGFβ1-mediated E-cadherin mislocalization. These data suggest that EoE severity can depend on genotypic differences that increase in vivo exposure to TGFβ1. TGFβ1 inhibition may be a useful therapy in subsets of EoE patients.

Effect of the interleukin 10 polymorphisms on interleukin 10 production and visceral hypersensitivity in Chinese patients with diarrhea-predominant irritable bowel syndrome.

Background:Irritable bowel syndrome (IBS), a functional gastrointestinal disorder, is characterized by cytokine imbalance. Previously, decreased plasma interleukin 10 (IL-10) level was reported in patients with IBS, which may be due to genetic polymorphisms. However, there are no reports correlating the IL-10 polymorphisms with IL-10 production in patients with IBS. This study aimed to analyze the effect of IL-10 polymorphisms on IL-10 production and its correlation with the clinical symptoms in Chinese patients with diarrhea-predominant IBS (IBS-D).Methods:Two IL-10 single nucleotide polymorphisms (rs1800871 and rs1800896) were detected in 120 patients with IBS-D and 144 healthy controls (HC) using SNaPshot. IBS symptom severity score, Bristol scale, hospital anxiety, and depressive scale (HADS) were used to evaluate the clinical symptoms, as well as the psychological status and visceral sensitivity of the subjects. IL-10 levels in the plasma and peripheral blood mononuclear cell (PBMC) culture supernatant were measured using enzyme-linked immunosorbent assay, while those in ileal and colonic mucosal biopsies were measured using immunohistochemistry.Results:The frequency of rs1800896 C allele was significantly lower in the patients with IBS-D than that in the HC (odds ratio: 0.49, 95% confidence interval: 0.27–0.92, P = 0.0240). The IL-10 levels in the plasma (P = 0.0030) and PBMC culture supernatant (P = 0.0500) of the CT genotype subjects were significantly higher than those in the TT genotype subjects. The CT genotype subjects exhibited a higher pain threshold in the rectal distention test than the TT genotype subjects. Moreover, IL-10 rs1800871 GG genotype subjects showed an increase in the HADS score compared to other genotype subjects.Conclusions:IL-10 rs1800896 C allele is correlated with higher IL-10 levels in the plasma and the PBMC culture supernatant, which is associated with a higher pain threshold in the Chinese patients with IBS-D. This study provides an explicit relationship of IL-10 polymorphisms with IL-10 production, which might help in understanding the pathogenesis of IBS-D.

Effect of rs3910105 in the Synuclein Gene on Dopamine Transporter Availability in Healthy Subjects.

PurposeThe present study investigated associations between dopamine transporter (DAT) availability and α-synuclein levels in cerebrospinal fluid, as well as synuclein gene (SNCA) transcripts, and the effect of single nucleotide polymorphism of SNCA on DAT availability in healthy subjects.Materials and MethodsThe study population comprised healthy controls who underwent 123I-FP-CIT single-photon emission computed tomography screening. Five SNCA probes were used to target the boundaries of exon 3 and exon 4 (SNCA-E3E4), transcripts with a long 3′UTR region (SNCA-3UTR-1, SNCA-3UTR-2), transcripts that skip exon 5 (SNCA-E4E6), and the rare short transcript isoforms that comprise exons 1–4 (SNCA-007).ResultsIn total, 123 healthy subjects (male 75, female 48) were included in this study. DAT availability in the caudate nucleus (p=0.0661) and putamen (p=0.0739) tended to differ according to rs3910105 genotype. In post-hoc analysis, DAT availability in the putamen was lower in subjects of TT genotype than those of CC/CT (p=0.0317). DAT availability in the caudate nucleus also showed a trend similar to that in the putamen (p=0.0597). Subjects of CT genotype with rs3910105 showed negative correlations with DAT availability in the putamen with SNCA-E3E4 (p=0.037, rho=−0.277), and SNCA-E4E6 (p=0.042, rho=−0.270), but not those of CC/TT genotypes.ConclusionThis is the first study to investigate the association of rs3910105 in SNCA with DAT availability. rs3910105 had an effect on DAT availability, and the correlation between DAT availability and SNCA transcripts were significant in CT genotypes of rs3910105.

Polymorphisms of Vitamin D Signaling Pathway Genes and Calcium-Sensing Receptor Gene in respect to Survival of Hemodialysis Patients: A Prospective Observational Study.

We evaluated in the 7-year prospective study whether variants in vitamin D pathway genes and calcium-sensing receptor gene (CASR) are determinants of mortality in hemodialysis (HD) patients (n = 532). HRM analysis was used for GC rs2298849, GC rs1155563, RXRA rs10776909, RXRA rs10881578, and CASR rs7652589 genotyping. GC rs7041, RXRA rs749759, VDR rs2228570, and VDR rs1544410 were genotyped using PCR-RFLP analysis. The minor allele in GC rs2298849 was associated with all-cause mortality in univariate analysis (HR 1.330, 95% CI 1.046–1.692, P = 0.020). Bearers of the minor allele in GC rs2298849 demonstrated higher infection/neoplasm mortality than major allele homozygotes also in multivariate analysis (HR 2.116, 95% CI 1.096–4.087, P = 0.026). Cardiovascular mortality was associated with major homozygosity (CC) in VDR rs2228570 (HR 1.896, 95% CI 1.163–3.091, P = 0.010). CC genotype patients were more often dyslipidemic than TT genotype subjects (46.1% versus 31.9%, P = 0.047). Dyslipidemics showed higher frequency of rs1544410_rs2228570 haplotype AC than nondyslipidemics (26 versus 18%, P corr = 0.005), whereas TT genotype patients were at lower risk of dyslipidemia compared with CC/CT genotype patients (HR 0.59, 95% CI 0.37–0.96, P = 0.04). In conclusion, GC rs2298849 and VDR rs2228570 SNPs are associated with survival on HD. VDR-related cardiovascular mortality may occur due to connections of rs2228570 with dyslipidemia.

The TGFβ1 Promoter SNP C-509T and Food Sensitization Promote Esophageal Remodeling in Pediatric Eosinophilic Esophagitis.

BackgroundEosinophilic esophagitis (EoE) is a chronic antigen mediated disease associated with substantial esophageal remodeling and fibrosis. The functional TGFβ1 promoter SNP C-509 associates with renal fibrosis and asthma. The effect of TGFβ1 genotype and EoE severity or potential gene-environment interactions have not been previously reported in EoE.MethodsGenotype at TGFβ1 C-509T and remodeling was analyzed in 144 subjects with EoE. The severity of remodeling and inflammation was analyzed in the context of IgE sensitization to food antigens and C-509T genotype.ResultsThe TGFβ1 promoter C-509 genotypes CC, CT, and TT were 35%, 52%, and 13%, respectively. Sixty-six percent of subjects were sensitized to foods by positive skin prick test (SPT) or serum specific IgE. TT genotype subjects had significantly more TGFβ1 (CC subjects = 1300 per mm2; TT = 2250 per mm2) (p<0.05) and tryptase (CC subjects = 145 per mm2: TT = 307 per mm2) (p<0.05) positive cells and higher epithelial remodeling scores (2.4 vs 3.7, p<0.001) than CC subjects. The differences in TGFβ1 and tryptase positive cells as well as fibrosis were significantly increased when there was concurrent food sensitization. Food sensitization alone did not associate with any parameters of inflammation or remodeling.ConclusionsOur data support a gene-environment interaction between food and genotype at C-509 that modulates disease severity in EoE. Since EoE subjects often continue to consume foods to which they are sensitized, these findings may have clinical relevance for disease management.

The influence of ABCB1 polymorphism C3435T on the pharmacokinetics of silibinin.

Silibinin (Silybin), a major constituent of the milk thistle, is commonly used to treat chronic liver disease in some countries. It has been reported to inhibit the transport activity of ABCB1. This study was carried out to determine whether ABCB1 C3435T polymorphism influenced the pharmacokinetics of silibinin contained in silymarin capsules. Twenty-three healthy volunteers (10 ABCB1 CC, 8 CT and 5 TT genotypes) were enrolled in this clinical trial. Each volunteer was given a single dose of 140 mg Silymarin Capsule. Blood samples were then collected up to 12 h. HPLC-MS/MS was used to detect serial blood concentration of silybin. The peak plasma concentration (Cmax) in subjects of CC (144·8 ± 60·1 ng/mL) and CT (129·3 ± 50·3 ng/mL) genotypes were 2-fold higher than in subjects of TT genotype (60·1 ± 18·3 ng/mL) (with P = 0·0007 and P = 0·0115 respectively). The area under the concentration-time curve (AUC) extrapolated to infinity [AUC(0-∞)] of CC carriers (347·1 ± 133·8 ng/mL h) was significantly higher than that of TT carriers (228·3 ± 52·9 ng/mL h) (P = 0·0115). The pharmacokinetics of silibinin was significantly influenced by ABCB1 C3435T polymorphism. Dosage adjustment may be necessary for subjects of different genotypes to ensure comparative exposures. A dose-ranging clinical trial should be undertaken to determine whether the observed differences are clinically significant.

ROLE OF RS9939609 FTO GENE VARIANT IN WEIGHT LOSS, INSULIN RESISTANCE AND METABOLIC PARAMETERS AFTER A HIGH MONOUNSATURATED VS A HIGH POLYUNSATURATED FAT HYPOCALORIC DIETS.

common polymorphisms (rs9939609) of the fat mass and obesity associated gene (FTO) have been linked to obesity. our aim was to investigate the role of this polymorphism on insulin resistance, metabolic changes and weight loss secondary to a high monounsaturated fat vs a high polyunsaturated fat hypocaloric diets. a sample of 233 obese subjects was enrolled in a prospective way. In the basal visit, patients were randomly allocated during 3 months to; Diet M (high monounsaturated fat hypocaloric diet) or Diet P (high polyunsaturated fat hypocaloric diet). after treatment with two diets and in both genotypes, weight, fat mass and waist circumference decreased. Lower levels of body mass index (BMI), weight and fat mass were detected after Diet P in A allele carriers than TT genotype subjects. With the diet type P and in both genotypes (TT and AT + AA), total cholesterol levels (-15.3 + 35.1 mg/dl vs -11.6 + 32.1 mg/dl: p > 0.05) and LDL cholesterol levels (-11.5 + 34.1 mg/dl vs -8.5 + 30.1 mg/dl: p > 0.05) decreased. In A allele carriers a significant decreased was detected in insulin levels (-2.8 + 2.1 UI/L vs -1.3 + 8.0 UI/L: p < 0.05) and HOMA index (-1.0 + 1.3 vs -0.2 + 2.1: p > 0.05), too. With the diet M and in both genotype groups, leptin levels (-8.0 + 17.1 ng/ ml vs -4.9 + 18.7 ng/ml: p > 0.05) decreased. Conclusiones: metabolic improvement secondary to weight loss was better in A carriers with a high polyunsaturated fat hypocaloric diet.

Association of CD40 −1C/T polymorphism with cerebral infarction susceptibility and its effect on sCD40L in Chinese population

This study aims to determine whether functional polymorphism of CD40 is associated with the cerebral infarction (CI) susceptibility, and to investigate the effect of CD40 gene polymorphism on CD40 mRNA expression in PBMCs and plasma sCD40L concentration. A case-control study was performed in 402 CI patients and 693 controls. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The expressions of CD40 mRNA and plasma sCD40L concentration were determined. The distribution of TT genotype and the frequency of T allele in CI patients were significantly higher than those in the controls (P<0.05). The frequency of T allele was also significantly higher in the male subjects and the elder subjects (P<0.05) when stratified analysis was carried out. The PBMCs from CI patients showed significantly higher CD40 mRNA expression than controls (P<0.01), the CD40 mRNA expression from TT genotype was higher than other genotypes (P<0.05). TT genotype subjects also showed the highest plasma sCD40L concentration in the male CI patients (P<0.01). CD40 -1C/T polymorphism may interfere CI susceptibility, and the T allele may be associated with increased risk of CI. The CD40 -1C/T polymorphism is also a regulator of CD40 expression and plasma sCD40L concentration.

A functional NPSR1 gene variant and environment shape personality and impulsive action: A longitudinal study

Neuropeptide S and its receptor NPSR1 are involved in the regulation of arousal, attention and anxiety. We examined whether the NPSR1 gene functional polymorphism Asn¹⁰⁷Ile (rs324981, A>T) influences personality, impulsivity, and attention-deficit/hyperactivity disorder (ADHD)-related symptoms in a population-representative sample, and whether any eventual associations depend on age, sex, family relations and stressful life events (SLE). We used self-reports or teachers' ratings for both the younger (n=593) and older (n=583) cohort of the longitudinal Estonian Children Personality, Behaviour and Health Study. Males with the TT genotype displayed more ADHD-related symptoms. Adaptive impulsivity and Extraversion increased the most from age 18 to 25. While highest increases were observed in AA men, TT women exhibited the largest decreases. For participants with the AA genotype, Warmth in family was inversely associated with Neuroticism, and positively associated with Extraversion and Adaptive impulsivity. High exposure to SLE increased impulsivity and ADHD scores in TT genotype subjects. We conclude that the NPSR1 A/T polymorphism is associated with impulsivity, ADHD symptoms and personality, mirroring the activity- and anxiety-mediating role of NPSR1. Heterozygous individuals were the least sensitive to environmental factors, whereas subjects with the AA genotype and TT genotype reacted to different types of environmental adversities.

Variants in the Toll-interacting protein gene are associated with susceptibility to sepsis in the Chinese Han population

IntroductionDeregulated or excessive host immune responses contribute to the pathogenesis of sepsis. Toll-like receptor (TLR) signaling pathways and their negative regulators play a pivotal role in the modulation of host immune responses and the development of sepsis. The objective of this study was to investigate the association of variants in the TLR signaling pathway genes and their negative regulator genes with susceptibility to sepsis in the Chinese Han population.MethodsPatients with severe sepsis (n = 378) and healthy control subjects (n = 390) were enrolled. Five genes, namely TLR2, TLR4, TLR9, MyD88 and TOLLIP, were investigated for their association with sepsis susceptibility by a tag single nucleotide polymorphism (SNP) strategy. Twelve tag SNPs were selected based on the data of Chinese Han in Beijing from the HapMap project and genotyped by direct sequencing. The mRNA expression levels of TOLLIP were determined using real-time quantitative Polymerase Chain Reaction (PCR) assays, and concentrations of tumor necrosis factor alpha (TNF-α) and interleukin-6 (IL-6) were measured by enzyme-linked immunosorbent assay (ELISA).ResultsOur results showed that the minor C-allele of rs5743867 in TOLLIP was significantly associated with the decreased risk of sepsis (Padj = 0.00062, odds ratio (OR)adj = 0.71, 95% confidence interval (CI) 0.59 to 0.86) after adjustment for covariates in multiple logistic regression analysis. A 3-SNP haplotype block harboring the associated SNP rs5743867 also displayed strong association with omnibus test P value of 0.00049. Haplotype GTC showed a protective role against sepsis (Padj = 0.0012), while haplotype GCT showed an increased risk for sepsis (Padj = 0.00092). After exposure to lipopolysaccharide (LPS), TOLLIP mRNA expression levels in peripheral blood mononuclear cells (PBMCs) from homozygotes for the rs5743867C allele were significantly higher than in heterozygotes and homozygotes for the rs5743867T allele (P = 0.013 and P = 0.01, respectively). Moreover, the concentrations of TNF-α and IL-6 in culture supernatants were significantly lower in the subjects of rs5743867CC genotype than in CT and TT genotype subjects (P = 0.016 and P = 0.003 for TNF-α; P = 0.01 and P = 0.002 for IL-6, respectively).ConclusionsOur findings indicated that the variants in TOLLIP were significantly associated with sepsis susceptibility in the Chinese Han population.

Angiotensin converting enzyme I/D, angiotensinogen M235T and AT1-R A/C1166 gene polymorphisms in patients with acromegaly

Acromegaly is associated with increased morbidity and mortality related to cardiovascular disease. Hypertension is one of the most common cardiovascular risk factors in acromegalic patients. The aim of this study was to investigate association between the frequencies of angiotensin converting enzyme (ACE) I/D, angiotensinogen (AGT) M235T and the angiotensin II type 1 receptor (AT1-R) A/C1166 gene polymorphisms and some clinical parameters of acromegalic patients. Total of 33 acromegalic patients and 63 controls were enrolled to study. We determined the ACE I/D, AGT M235T and AT1-R A/C1166 gene polymorphisms. Serum insulin, glucose, triglyceride, HDL-cholesterol, LDL-cholesterol, growth hormone and Insulin-like growth factor I (IGF-I) levels of subjects were analyzed. The frequencies of ACE and M235T AGT genotype were not significantly different between control and patients. The distribution of AT1R A/C1166 genotypes was significantly different between patients and control subjects (P=0.016). None of the three ACE genotypes, DD, ID and II displayed significant difference in acromegalic patients. A significant difference in systolic blood pressure and the serum IGF-I levels among the three AGT genotype, MM, MT and TT genotypes was found in patient group. Individuals with MT genotypes had significantly higher serum IGF-I levels and systolic blood pressure than MM and TT genotype subjects, P<0.05. In addition, serum triglyceride and HDL levels differed significantly between MM and MT genotypes, P<0.05. However, systolic blood pressure of patients with CC genotypes was found to be significantly higher than AA genotypes individuals in acromegaly group, P<0.05. It can be said that the angiotensinogen MT and AT1R CC1166 genotype carriers may have more risk than other genotypes in the development of hypertension in acromegaly.

High‐resolution melting analysis for the rapid detection of an intronic single nucleotide polymorphism in SLC22A12 in male patients with primary gout in China

Objectives: The human urate transporter 1 (URAT1, encoded by SLC22A12) was recently identified as the major absorptive urate transporter protein in the kidney responsible for regulating blood urate levels. The present study was designed to investigate the rs893006 polymorphism (GG, GT, and TT) in SLC22A12 in a total of 292 Chinese male subjects. Differences of clinical characteristics among the genotype groups were analysed.Methods: A total of 124 consecutive patients with diagnosis of primary gout and 168 healthy male volunteers were enrolled in this study. Demographic and clinical data were obtained from the patients and controls. DNA was purified from peripheral blood and the rs893006 polymorphism was determined with sequencing analysis. In addition, DNA samples were detected by high‐resolution melting (HRM) analysis. Melting curves were analysed as fluorescence difference plots. The shift and curve shapes of melting profiles were used to distinguish the different genotypes.Results: GG, GT, and TT genotypes were unambiguously distinguished with HRM technology. Genotyping based on HRM analysis was fully concordant with the sequencing. Serum uric acid levels in the TT genotype subjects were significantly lower than those in the GG and GT genotypes. However, no differences among the groups were found in body mass index (BMI), blood pressure, creatinine, total cholesterol, and triglycerides. The TT genotype was observed more frequently among the low uric acid group than the high uric acid group.Conclusions: HRM analysis is a simple, rapid and accurate one‐tube assay for genotyping the SLCSSA12 gene. The rs893006 polymorphism in SLC22CA12 was confirmed to be a genetic risk for hyperuricaemia among the Chinese male population.