Ethnic Han Chinese Research Articles

Reference intervals for plasma pro-gastrin releasing peptide (ProGRP) levels in healthy adults of Chinese Han ethnicity.

To determine the upper limits of the 95th percentile reference intervals (RIs) for the detection of the pro-gastrin releasing peptide (ProGRP) in plasma according to the Clinical and Laboratory Standards Institute (CLSI) C28-A3 guideline in a population of adult Chinese of Han ethnicity. Plasma samples were collected from 578 healthy adults. Plasma ProGRP values were measured by chemiluminescent microparticle immunoassay (CMIA) on Abbot ARCHITECT i2000 system analyzers. Plasma ProGRP values did not conform to a Gaussian distribution, and thus non-parametric statistical methods were used to calculate RIs. Plasma ProGRP levels significantly increased with age, thus age-dependent RIs were determined. The upper limit of the 95th percentile RIs for plasma ProGRP was ≤57.26 pg/mL for young adults (18-50 years) and ≤81.42 pg/mL for old adults (>50 years). By CMIA, we established distinct age-dependent RIs for plasma ProGRP in healthy adults of Chinese Han ethnicity, thus generating a valuable reference for future clinical and laboratory studies.

What do we know and do not know about vitamin D?: a causal association between vitamin D receptor genetic polymorphism and hypertension.

In this issue of the Journal, Jia and colleagues 1 conducted a genetic association study in which they evaluated the relationship between vitamin D receptor (VDR) polymorphism and hypertension in a Chinese Han population. In a case-control model, the study included 2409 patients with known hypertension and initial office blood pressure (BP) elevation as well as 3063 control patients with normal BP and no history of hypertension. Patients and controls were recruited through a community-based epidemiological survey, and both groups included participants of Han Chinese ethnicity only. Basic demographic and clinical features of the study population were gathered through interview with standard questionnaire. Fasting blood samples for studying serum glucose level and lipid profile were obtained. A rigorous methodology was used to select candidate single nucleotide polymorphisms (SNPs) in the VDR gene region. The authors selected three SNPs by setting minor allele frequency at ≥0.05 from Hapmap of Han Chinese and applied the linkage disequilibrium method to determine tagging SNPs with r 2 ≥0.80 as candidate SNPs. Finally, three SNPs (rs11574129, rs2228570, and rs739837) were selected. Genomic DNA was extracted from circulating leucocytes in all patients and controls by means of a commercial system. There was no sex difference seen, although patients were significantly older compared with controls. Serum fasting triglyceride and glucose concentrations as well as systolic and diastolic BPs were significantly higher in patients compared with controls. There was no difference in terms of rate of smoking status and high-density lipoprotein concentration between the groups. The patient and control groups were no different in terms of genotype and allele frequencies of all three SNPs studied, even after adjusting for covariates. The authors also performed a stratified analysis based on sex, age, and smoking. Only SNP of rs2228570 showed a statistically significant association with decreased risk of hypertension in the male group and smokers separately. However, other SNPs did not show such a significant association in stratified analyses. Finally, the authors divided patient group into naive hypertensives and patients who were already taking antihypertensive treatment to control for the effect of antihypertensive medications, and compared genotypes in terms of impact on systolic and diastolic BP levels. Quantitative trait analysis using a general linear model revealed that the TC/CC group of rs2228570 had lower systolic BP compared with the TT genotype in the treated hypertensive subgroup even after adjustment for confounding factors. Moreover, naive hypertensive patients with TT genotype of the latter SNP showed higher SBP compared with the TC/CC genotype. Other SNPs did not show such a relationship in the patient cohort.

Genetic analysis of SNCA coding mutation in Chinese Han patients with Parkinson disease.

Parkinson disease (PD) is the second most common progressive neurodegenerative disorder. It is characterized by selective loss of dopamine-producing neurons and aggregation of alpha-synuclein (SNCA) in neurons of particular brain regions. At least 20 loci and 15 disease-causing genes have been identified. Rare missense or multiplication mutations in the SNCA gene have been reported to be involved in some familial and sporadic cases of PD. More recently, two novel pathogenic missense mutations (p.H50Q and p.G51D) were identified in the SNCA gene. To evaluate whether mutation(s) in the coding region of SNCA gene is related to PD in Chinese population, we investigated the SNCA gene in 502 PD patients of Chinese Han ethnicity from Mainland China. No pathogenic mutation was identified in the coding region of the gene. A known G to A transition (c.306 + 66G>A, rs10005233) in the intron 4, which does not potentially change splicing, was identified. Our data indicate that mutations in the coding region of the SNCA gene are not likely to be a common cause of PD in Chinese population.

An Association of Reaction Time with Bone Quantitative Ultrasound

Requirement of artificial bone materials is high, which demands us to consider many factors of human body. Evidence exists that estrogen influences neuronal physiology and cognitive function. Bone mineral density has been proposed as a marker for cumulative estrogen exposure. This study examined whether choice reaction time (CRT) would be related to calcaneus quantitative ultrasound (QUS). 222 ethnic Han Chinese men were recruited. Besides age and body mass index (BMI), cigarette smoking, as an important environment factor influencing cognition and bone health, was included in covariants. Results showed that CRT performance was statistically significantly positively correlated with bone quality index (p < 0.01) and speed of sound (SOS) (p < 0.001) before controlling covariants. After adjustment for age, BMI, and smoking, CRT remained significantly related to SOS (p < 0.05). Our findings indicate that CRT may be associated with bone status, which suggests an effect of artificial bone on nervous system should be considered when it is produced.

Knowledge of Human Papillomavirus (HPV) Infection, Cervical Cancer, and HPV Vaccine and its Correlates among Medical Students in Southwest China: a Multi-center Cross-sectional Survey

Since cervical cancer can be prevented and controlled through human papillomavirus (HPV) vaccination, it is important to train health care providers and provide them with appropriate knowledge. This study aimed to understand the level of HPV related knowledge among medical students and correlates in Southwest China in order to address any potential gap in their knowledge base. We conducted a cross-sectional survey among medical students in six selected universities across Southwest China based on a pretested questionnaire regarding HPV infection, cervical cancer, and HPV vaccines. We successfully surveyed 1, 878 medical students, of whom 32.1% were males and 67.9% were females. Their mean age was 20.8 (standard deviation: 1.3) years. 91.8% of them were ethnic Han Chinese, and 43.8% were students in clinical medicine. While 76.5% had heard of HPV only 48.8% knew that the prevention of cervical cancer was possible through HPV vaccination. Only 42.9% of the male and 49.2% of the female students correctly answered over 10 out of 22 questions on HPV related knowledge. Female students appeared to know more about HPV and HPV vaccination (OR: 1.39; 95% CI: 1.11-1.75). In addition, the student knowledge improved with the grade (p<0.001). University courses were the most selected source of knowledge about HPV vaccination (66.4%). 83.6% of males and 91.4% of females were willing to have more HPV related education by experts (p<0.001). Only 10.1% of the students acknowledged that people had asked for their advice regarding HPV vaccination. Our survey indicates that medical students from Southwest China have poor knowledge of HPV and HPV vaccination, but are willing to receive more relevant information. Targeted education should be incorporated into school courses to inform these future health care providers and ensure success of programs for cervical cancer control and prevention.

A Functional Variant in APOA5/A4/C3/A1 Gene Cluster Contributes to Elevated Triglycerides and Severity of CAD by Interfering With MicroRNA 3201 Binding Efficiency

BackgroundRecent genome-wide association studies identified the APOA5/A4/C3/A1 gene cluster polymorphisms influencing triglyceride level and risk of coronary artery disease (CAD). ObjectivesThe purposes of this study were to fine-map triglyceride association signals in the APOA5/A4/C3/A1 gene cluster and then explore the clinical relevance in CAD and potential underlying mechanisms. MethodsWe resequenced the APOA5/A4/C3/A1 gene cluster in 200 patients with extremely high triglyceride levels (≥10 mm/l) and 200 healthy control subjects who were ethnically matched and genotyped 20 genetic markers among 4,991 participants with Chinese Han ethnicity. Subsequently, 8 risk markers were investigated in 917 early-onset and 1,149 late-onset CAD patients, respectively. The molecular mechanism was explored. ResultsBy resequencing, a number of newly and potentially functional variants were identified, and both the common and rare variants have remarkable cumulative effects on hypertriglyceridemia risk. Of note, gene dosage of rs2266788 demonstrated a robust association with triglyceride level (p = 1.39 × 10−19), modified Gensini scores (p = 1.67 × 10−3), and numbers of vascular lesions in CAD patients (odds ratio: 1.96, 95% confidence interval: 1.31 to 2.14, p = 8.96 × 10−4). Functional study demonstrated that the rs2266788 C allele destroyed microRNA 3201 binding to the 3′ UTR of APOA5, resulting in prolonging the half-life of APOA5 messenger RNA and increasing its expression levels. ConclusionsGenetic variants in APOA5/A4/C3/A1 gene cluster play an important role in the regulation of plasma triglyceride levels by an increased APOA5 concentration and contribute to the severity of CAD.

Single-nucleotide polymorphisms of LIG1 associated with risk of lung cancer.

To investigate the association of LIG1 with the risk of lung cancer, all subjects of unrelated ethnic Han Chinese in Liaoning Province were involved in a hospital-based case-control study. The case group consisted of 370 histologically diagnosed lung cancer patients; 314 controls were selected from cancer-free patients during Dec. 2009 to Dec. 2011. LIG1 rs1050298SNP were analyzed by TaqMan real-time PCR method. All statistical analyses were performed with Statistical Product and Service Solution sv13.0 (SPSS). The genotype distribution frequency of LIG1 rs1050298 SNP displayed significant difference between the case and the control group. Individuals carrying the LIG1 rs1050298 T genotype had higher risks of lung cancer, especially those with squamous cell carcinoma.

Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.

ObjectiveX-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese families and 3 sporadic patients with hypophosphatemic rickets/osteomalacia.MethodsFor this study, 45 individuals from 9 unrelated families of Chinese Han ethnicity (including 16 patients and 29 normal phenotype subjects), and 250 healthy donors were recruited. All 22 exons and exon-intron boundaries of the PHEX gene were amplified by polymerase chain reaction (PCR) and directly sequenced.ResultsThe PHEX mutations were detected in 6 familial and 3 sporadic hypophosphatemic rickets/osteomalacia. Altogether, 2 novel mutations were detected: 1 missense mutation c.1183G>C in exon 11, resulting in p.Gly395Arg and 1 missense mutation c.1751A>C in exon 17, resulting in p.His584Pro. No mutations were found in the 250 healthy controls.ConclusionsOur study increases knowledge of the PHEX gene mutation types and clinical phenotypes found in Chinese patients with XLH, which is important for understanding the genetic basis of XLH. The molecular diagnosis of a PHEX genetic mutation is of great importance for confirming the clinical diagnosis of XLH, conducting genetic counseling, and facilitating prenatal intervention, especially in the case of sporadic patients.

Single nucleotide polymorphisms predisposing to asthma in children of Mauritian Indian and Chinese Han ethnicity.

Our objective was to investigate the distributions of six single nucleotide polymorphisms (SNPs) MS4A2 E237G, MS4A2 C-109T, ADRB2 R16G, IL4RA I75V, IL4 C-590T, and IL13 C1923T in Mauritian Indian and Chinese Han children with asthma. This case-control association study enrolled 382 unrelated Mauritian Indian children, 193 with asthma and 189 healthy controls, and 384 unrelated Chinese Han children, 192 with asthma and 192 healthy controls. The SNP loci were genotyped using polymerase chain reaction (PCR)-restriction fragment length polymorphism for the Chinese Han samples and TaqMan real-time quantitative PCR for the Mauritian Indian samples. In the Mauritian Indian children, there was a significant difference in the distribution of IL13 C1923T between the asthma and control groups (P=0.033). The frequency of IL13 C1923T T/T in the Mauritian Indian asthma group was significantly higher than in the control group [odds ratio (OR)=2.119, 95% confidence interval=1.048-4.285]. The Chinese Han children with asthma had significantly higher frequencies of MS4A2 C-109T T/T (OR=1.961, P=0.001) and ADRB2 R16G A/A (OR=2.575, P=0.000) than the control group. The IL13 C1923T locus predisposed to asthma in Mauritian Indian children, which represents an ethnic difference from the Chinese Han population. The MS4A2 C-109T T/T and ADRB2 R16G A/A genotypes were associated with asthma in the Chinese Han children.

Screening of rare blood group Lu(a-b-) phenotype and study of its molecular basis in ethnic Han Chinese from Shanghai region

To study the frequency of rare blood group Lu(a-b-) phenotype in a population from Shanghai region, and to explore the molecular basis of Lu(a-b-) by detecting the Lu and Lu relative mediator gene EKLF/KLF1. Donors from Shanghai region were screened for Lutheran blood group by monoclonal anti-Lub using serological methods. Individuals with Lu(b-) were determined Lua, P1 and i antigens. Fifteen exons of the LU gene and 3 exons of the EKLF/KLF1 gene for the identified Lu(a-b-) samples were amplified and sequenced. Ten Lu(a-b-) donors were obtained from 44 331 donors from Shanghai region. No homozygous or heterozygous mutations were found in the LU gene, whilst 7 mutations in EKLF/KLF1 gene were identified in the 10 samples. The frequency of rare Lu(a-b-) blood group in Shanghai was approximately 0.02%, and all the individuals had an In(Lu) phenotype. The molecular basis of such samples may be related to mutations in the EKLF/KLF1 gene.

Research on association of BDNF gene Val66Met polymorphism with efficacy of antidepressants and plasma BDNF level

To assess the association of BDNF gene Val66Met polymorphism with efficacy of antidepressant treatment and plasma BDNF level. Two hundred and forty-nine ethnic Han Chinese patients with depression(study group), who have met the diagnostic criteria of DSM-IV, were prescribed with venlafaxine or paroxetine. Two hundred and two healthy individuals were recruited as the control group. General demographic information such as gender, age, educational status, occupation, and marriage status were collected. HAMD-17 was adopted as the primary rating tool to evaluate the severity of depression on the baseline and at the end of 1st, 2nd, 4th, 6th week of treatment. PCR-restriction fragment length polymorphism was applied to determine the Val66Met polymorphism of the BDNF gene in the two groups. Plasma BDNF concentration was measured with ELISA before and after 6 weeks of treatment. No significant differences have been found in HAMD scores and reduction of HAMD scores on the baseline and at the end of 1 st, 2nd, 4th, 6th weeks of treatment for each genotype. Nor were significant differences found in the Val66Met genotypes and allelic frequency between patients who achieved remission or not after 6 weeks' treatment as well as the healthy volunteers. The plasma BDNF level in depression patients was lower than that in healthy controls. The BDNF level has increased significantly after 6 weeks' treatment with both venlafaxine and paroxetine, but was still lower than the healthy controls. The BDNF level in the patients achieved remission who were treated with venlafaxine was similar to the normal controls, while those treated with paroxetine was still lower than normal controls. The BDNF level in patients who have not achieved remission was lower than normal controls. The BDNF level was not associated with the Val66Met polymorphism on the baseline and the end of 6th week. No association has been found between the efficacy of venlafaxine or paroxetine and the BDNF Val66Met polymorphism. The BDNF level of patients with depression is significantly lower than healthy controls on the baseline, and can be enhanced with the treatment. Particularly, the BDNF level in patients who achieved remission after the treatment of venlafaxine can rise to normal. The level of BDNF has certain value in the forecasting of efficacy in the anti-depression therapy. BDNF level is not associated with the Val66Met polymorphism of the BDNF gene.

Genetic Contribution of CISH Promoter Polymorphisms to Susceptibility to Tuberculosis in Chinese Children

Tuberculosis (TB) is the leading cause of death due to an infectious disease worldwide, particularly in developing countries. A series of candidate genes have been suggested to be associated with development of TB disease. Among them, the human Cytokine-inducible Src homology 2(SH2) domain protein (CISH) gene has been very recently reported to be involved in T cell activation and differentiation in response to Mycobacterium tuberculosis infection. Here, we studied the association between CISH promoter polymorphisms and pediatric TB. A case-control study enrolled 352 TB patients and 527 healthy controls, who were of Han Chinese ethnicity and aged from 0.2 to 18 years. CISH gene promoter SNPs rs414171, rs622502 and rs809451 were genotyped in all subjects and transcriptional activity, mRNA level, and plasma cytokine level of subjects with different genotypes were further examined. Carriers with rs414171TT homozygotes and rs809451GC heterozygotes had a 1.78-fold (95% CI,1.16–2.74) and 1.86-fold (95% CI, 1.26–2.74) excess risk of developing TB compared to those with wild-type genotypes. A greater risk of TB disease was observed in population carrying C−809451-T−414171-C−622502 haplotype (OR 3.66, 95% CI:2.12–6.32). The G−809451-A−414171-C−622502-containing CISH promoter drove a 5.43-fold increased reporter expression compared to the C−809451-T−414171-C−622502-containing counterpart in Hela cell lines (P = 0.0009). PBMCs carrying rs414171TT homozygotes and rs809451GC heterozygotes showed a reduced CISH mRNA level compared to cells carrying wild type genotypes. Individuals with the rs414171TT genotype had significantly increased IL-12p40 and IL-10 production. In conclusion, CISH promoter rs414171 and rs809451 polymorphisms may play a vital role in mediating individual susceptibility to tuberculosis.

The A55T and K153R polymorphisms of MSTN gene are associated with the strength training-induced muscle hypertrophy among Han Chinese men

Myostatin, encoded by the MSTN gene, is a strong regulator of skeletal muscle growth. The present study aimed to investigate whether the A55T and K153R polymorphisms of MSTN were associated with the strength training-induced muscle hypertrophy among Han Chinese men. A total of 94 healthy, untrained men were recruited for an 8-week strength training programme. The thicknesses of biceps and quadriceps, along with anthropometric measurements of the participants, were assessed before and after the programme. The MSTN polymorphisms were subsequently genotyped employing polymerase chain reaction-restriction fragment length polymorphism technique and confirmed by DNA sequencing. One-way analysis of variance was used to compare the pre- and post-training measurements between carriers of different polymorphic genotypes. Our results indicated that individuals with AT + TT genotype of the A55T polymorphism showed a significant increase in the thickness of biceps (0.292 ± 0.210 cm, P = 0.03), but not quadriceps (0.254 ± 0.198 cm, P = 0.07), compared to carriers of AA genotype. For the K153R polymorphism, the increases in the thicknesses of both biceps (0.300 ± 0.131 cm) and quadriceps (0.421 ± 0.281 cm) were significantly higher among individuals with KR than those with KK genotypes (P < 0.01 for both muscles). The results obtained therefore suggested a possible association between the two polymorphisms and the strength training-induced muscle hypertrophy among men of Han Chinese ethnicity.

Association of Kallikrein gene polymorphisms with sporadic intracranial aneurysms in the Chinese population

Variants of Kallikreins have been shown to be risk factors for intracranial aneurysm (IA) in a Finnish population. In the present study, the authors investigated the correlation between polymorphisms in the Kallikrein gene cluster and IAs in the Chinese population. The association of Kallikrein variants (rs1722561 and rs1701946) with sporadic IAs was tested in 308 cases and 443 controls. The differences in allelic frequencies between patients and the control group were evaluated with the chi-square test. The C allele of rs1722561 showed a significant reduction in the risk of sporadic IA (OR 0.71, 95% CI 0.53-0.95; p = 0.023). However, no association of the variant rs1701946 with sporadic IA was found (OR 0.78, 95% CI 0.57-1.06; p = 0.115). The variant rs1722561 of Kallikreins might reduce the risk of sporadic IAs among individuals of Chinese Han ethnicity. This study confirms the association between Kallikreins and IAs.

Associations between GJB2, Mitochondrial 12S rRNA, SLC26A4 Mutations, and Hearing Loss among Three Ethnicities

The epidemiological researches show that the mutations of GJB2, mitochondrial 12S rRNA, and SLC26A4 genes have played an important role in the hearing loss. This study aims to investigate the mutation spectrum of GJB2, mitochondrial 12S rRNA, and SLC26A4 genes of Han Chinese, Hui people, and Uyghur ethnicities in sensorineural hearing loss (SNHL) patients in northwest of China. Mutational analyses in the three genes were brought by direct sequencing and each fragment was analyzed using an ABI 3730 DNA Sequencer. The mutation frequencies for the three HL causative genes were 34.05% in Han Chinese participants, 27.47% in Hui people, and 14.44% in Uyghur participants, respectively. The prevalence of GJB2 mutations was 13.7%, 11.4%, and 11.4% in Han Chinese, Hui people, and Uyghur participants (χ 2 = 10.2, P < 0.05), respectively. The prevalence of mtDNA 12S rRNA A1555G homozygous mutations was 6.05%, 3.27%, and 1.44% in Han Chinese, Hui people, and Uyghur participants (χ 2 = 13.9, P < 0.05), respectively. The prevalence of SLC26A4 mutations was 14.3%, 12.8%, and 1.6% in Han Chinese, Hui people, and Uyghur participants, respectively. In summary, we find that Uyghur and Hui SNHL individuals vary significantly from Han Chinese patients in three causative HL genes' mutational spectrum, especially for Uyghur.

A Genome Wide Association Study Identifies Common Variants Associated with Lipid Levels in the Chinese Population

Plasma lipid levels are important risk factors for cardiovascular disease and are influenced by genetic and environmental factors. Recent genome wide association studies (GWAS) have identified several lipid-associated loci, but these loci have been identified primarily in European populations. In order to identify genetic markers for lipid levels in a Chinese population and analyze the heterogeneity between Europeans and Asians, especially Chinese, we performed a meta-analysis of two genome wide association studies on four common lipid traits including total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL) and high-density lipoprotein cholesterol (HDL) in a Han Chinese population totaling 3,451 healthy subjects. Replication was performed in an additional 8,830 subjects of Han Chinese ethnicity. We replicated eight loci associated with lipid levels previously reported in a European population. The loci genome wide significantly associated with TC were near DOCK7, HMGCR and ABO; those genome wide significantly associated with TG were near APOA1/C3/A4/A5 and LPL; those genome wide significantly associated with LDL were near HMGCR, ABO and TOMM40; and those genome wide significantly associated with HDL were near LPL, LIPC and CETP. In addition, an additive genotype score of eight SNPs representing the eight loci that were found to be associated with lipid levels was associated with higher TC, TG and LDL levels (P = 5.52×10-16, 1.38×10-6 and 5.59×10-9, respectively). These findings suggest the cumulative effects of multiple genetic loci on plasma lipid levels. Comparisons with previous GWAS of lipids highlight heterogeneity in allele frequency and in effect size for some loci between Chinese and European populations. The results from our GWAS provided comprehensive and convincing evidence of the genetic determinants of plasma lipid levels in a Chinese population.

CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment

AimsThe aim of the present work was to investigate CYP1B1 gene mutations in patients of Han Chinese ethnicity with primary congenital glaucoma (PCG), and explore the clinical characteristics associated with...

Genetic analysis of the fused in sarcoma gene in Chinese Han patients with Parkinson's disease

Background and purposeExome sequencing in a large essential tremor (ET) family identified a novel nonsense mutation (p.Q290X) in the fused in sarcoma gene (FUS) as the cause of this family. Because of the clinical overlap between ET and Parkinson's disease (PD), the role of FUS in an independent cohort of PD patients from China mainland was evaluated. MethodsThe entire coding region of FUS in 508 Chinese Han patients with PD and the identified variants in 633 normal controls were evaluated. A variant was further screened in an additional 382 controls for the frequency in our population. ResultsA novel variant c.696C > T (p.Y232Y) in 2 sporadic patients with PD and six variants (c.52C > A, p.P18T; c.52C > T, p.P18S; c.147C > A, p.G49G; c.291C > T, p.Y97Y; c.684C > T, p.G228G; c.1176G > A, p.M392I) without significant difference in genotypic and allelic distributions in our PD cohort were identified. ConclusionThe FUS gene is not a genetic risk factor for PD in the population of Chinese Han ethnicity.

Mitochondrial DNA mutations in diabetes mellitus patients in Chinese Han population

Background and objectiveMutations of mitochondrial DNA are associated with diabetes mellitus (DM). The present case–control study aimed to investigate the mutations of mitochondrial DNA in DM patients of Chinese Han ethnicity. Methods and resultsA total of 770 DM patients and 309 healthy control individuals were enrolled. The mitochondrial DNA was extracted from blood cells and analyzed by the polymerase chain reaction–restriction fragment length polymorphism assay. In the diabetes group, there were 13 (1.69%) individuals carrying the mt3243 A→G mutation while none of the healthy control had this mutation. Though the 14709, 3316, 3394, and 12026 mutation variants were identified in 9, 17, 18 and 28 in DM patients respectively, there were no significant differences compared with control group. And the 3256, 8296, 8344, 8363, 3426 and 12258 mutations were not detected in either group. In the diabetes group, two double mutations were identified: A3243G+T3394C and A3243G+A12026G. ConclusionOur data suggested that mitochondrial gene tRNALeu(UUR) 3243 A→G mutation may be one risk of prevalence of DM and associated with worse clinical status in Chinese Han population.

PRDM16 rs2651899 Variant Is a Risk Factor for Chinese Common Migraine Patients

Recent genome-wide association studies (GWAS) have identified 3 loci in or near PRDM16 (1p36.32, rs2651899), LRP1 (12q13.3, rs11172113) and TRPM8 (2q37.1, rs10166942) in the population-based Women's Genome Health Study (WGHS) of migraine, and 2 loci in or near TRPM8 and LRP1 were repeated in European GWAS study. To evaluate whether the same variants are related to migraine in Chinese population, we investigated migraine with aura (MA) and migraine without aura (MO) patients of Chinese Han ethnicity in mainland China. A case-control study in a cohort of 207 migraine cases and 205 ethnically matched controls was conducted by using the dual-color fluorescence resonance energy transfer (FRET) probes analysis. The genotypes of all polymorphisms in 2 groups followed the Hardy-Weinberg equilibrium. We found significant differences in allele distribution of rs2651899 variant in PRDM16 between MO patients and control subjects (P = .049, OR = 1.335, 95%CI 1.001-1.782), and there were no difference between MA patients and controls in the frequency of genotype and allele. Also, no significant differences in genotypic and allelic distributions between MA or MO patients and controls were observed in the polymorphisms of rs10166942 of TRPM8 and rs11172113 of LRP1, and there was no significant difference comparing male with female in all loci. Our data suggested that rs2651899 variant in PRDM16 plays a potential role in Chinese MO migraine susceptibility, and gender may not play a role.