Han Population In China Research Articles

Correlation Between C3435T Locus of ABCB1 Gene and Poststroke Depression in China.

This study aims to investigate whether a relationship exists between the C3435T polymorphism of ABCB1 gene and poststroke depression (PSD). A total of 82 PSD patients and 115 nondepression patient (NPSD) controls were included in this study. All patients were evaluated using the Hamilton Rating Scale for Depression to determine the severity of depression and complete the packet. PSD patients were diagnosed in accordance with the DSM-V criteria. The C3435T polymorphism of ABCB1 was genotyped through fluorescence in situ hybridization and chromosome karyotype analysis system. The PSD (n = 82) and NPSD groups (n = 115) had a total prevalence rate of 41.6%. The prevalence of PSD in men was 58.5%, whereas that in women was 41.5%, and no statistically significant difference existed between the two groups (χ2 = 1.009; p = 0.315). The CC, CT, and TT frequencies of the PSD group were 26.8%, 47.6%, and 25.6%, respectively, whereas those of the NPSD group were 42.6%, 45.2%, and 12.2%, respectively. Based on the CC genotype, the relative risk of homozygous mutant TT was 3.341 (χ2 = 7.869; p = 0.005; OR = 3.341), and the T allele frequency in the PSD group was 49.4% higher than that in the NPSD group. The locus gene frequency was 34.8%, and the relative risk of allele T relative to allele C was 1.830 (χ2 = 8.381; p = 0.004; OR = 1.830). A certain correlation exists between the C3435T gene polymorphism and PSD in the Han population in South Anhui Province, China, and further studies are needed to confirm our findings.

Association of COL4A2 Gene Polymorphisms with Lacunar Stroke in Xinjiang Han Populations

Recent studies have shown that variants in the COL4A2 genes are associated with sporadic cerebral small vessel disease. The aim of the study was to investigate the relationship between COL4A2 gene polymorphisms and lacunar stroke in Xinjiang Han populations. The improved multiple ligase detection reaction (iMLDR) method was used to analyze the genotypes of seven single-nucleotide polymorphisms (SNPs) in the COL4A2 gene (rs3803230, rs391859, rs4103, rs445348, rs76425569, rs7990383, rs9515185) in a case-control study of 406 lacunar stroke patients and 425 controls. The GG genotype of rs3803230 (adjusted OR = 1.303, 95% CI = 1.146-1.480, P < 0.001) and the GA/AA genotype of rs76425569 (adjusted OR = 1.744, 95% CI = 1.306-2.329, P < 0.001) showed significant increases in the risk of lacunar stroke. The G-A haplotype of rs3803230-rs76425569 carried a significant increase in the risk of lacunar stroke (OR = 1.616, 95% CI = 1.292-2.022, P < 0.001). Hypertension stratification analyses demonstrated that the GA/AA genotype of rs76425569 was significantly associated with lacunar stroke in the hypertensive group (adjusted OR = 1.316, 95% CI = 1.083-1.598, P = 0.006). In the non-hypertensive group, the GG genotype of rs3803230 (adjusted OR = 1.584, 95% CI = 1.257-1.997, P < 0.001) and GA/AA genotype of rs76425569 were significantly associated with lacunar stroke (adjusted OR = 1.312, 95% CI = 1.054-1.635, P = 0.015). The TT genotype of rs4103 was significantly associated with lacunar stroke in the non-hypertensive group (adjusted OR = 1.355, 95% CI = 1.152-1.594, P < 0.001). This study demonstrates that the COL4A2 gene could play a role in the pathogenesis of lacunar stroke in the Han population of China.

WNT10A rs147680216 G>A mutation indicates a higher risk for non-syndromic oral cleft in a northeastern Chinese population

Non-syndromic oral cleft lip and palate is a heterogeneous group of congenital malformations that consist of cleft palate, and cleft lip with or without cleft palate. The members of the wingless type mouse mammary tumour virus (MMTV) integration site family (Wnts) regulate various developmental processes including craniofacial development, and have a role in that of cleft lip and palate. We aimed to identify the potential polymorphisms in the Wnt10a gene, and to explore the association between the variations in the gene and the risk of development of cleft palate. A total of 198 affected patients (cleft lip, n=67; cleft palate, n=48; and both, n=83) together with 187 healthy controls were enrolled (all from the Chinese Han population in NE China). A fragment of 316 bp was amplified from the blood genome of each participant by polymerase chain reaction (PCR) using specific primers that targeted the Homo sapiens Wnt10a gene. By using the restriction enzyme AluI, the population analysed were classified into three genotypes, GG (316 bp), GA (316 bp, 117bp, 199bp) and AA (117bp, 199bp) based on the rs147680216 G/A polymorphism (Gly>Ser mutation at position 213 of Wnt10a protein) of theWnt10a gene. The frequency of allele A in the affected group was significantly higher (14.1% compared with 3.2% in the control group). The allele G with an odds ratio (OR) of 0.201 and 95% CI of 0.445 to 0.091 was not a risk factor for the condition in the affected group. However, the distribution of the genotype did affect its occurrence in the affected group (p<0.001), but not the classification of types (p=0.901). In conclusion we found an rs147680216 G>A mutation that was associated with non-syndromic cleft lip and palate in the Wnt10a gene.

Alteration of the intestinal flora may participate in the development of Graves' disease: a study conducted among the Han population in southwest China.

ObjectivesThe pathogenesis of Graves’ disease (GD) remains unclear. In terms of environmental factors, GD development may be associated with chronic inflammation caused by alteration of the intestinal flora. This study explored the association of intestinal flora alteration with the development of GD among the Han population in southwest China.Design and methodsFifteen GD patients at the Affiliated Hospital of Zunyi Medical College between March 2016 and March 2017 were randomly enrolled. Additionally, 15 sex- and age-matched healthy volunteers were selected as the control group during the same period. Fresh stool samples were collected, and bacterial 16S RNA was extracted and amplified for gene sequencing with the Illumina MiSeq platform. The sequencing results were subjected to operational taxonomic unit-based classification, classification verification, alpha diversity analysis, taxonomic composition analysis and partial least squares-discriminant analysis (PLS-DA).ResultsThe diversity indices for the GD group were lower than those for the control group. The GD group showed significantly higher abundances of Firmicutes, Proteobacteria and Actinobacillus and a higher Firmicutes/Bacteroidetes ratio than the control group. PLS-DA suggested the satisfactory classification of the flora between the GD group and the control group. The abundances of the genera Oribacterium, Mogibacterium, Lactobacillus, Aggregatibacter and Mogibacterium were significantly higher in the GD group than in the control group (P < 0.05).ConclusionsThe intestinal flora of GD patients was significantly different from that of the healthy population. Thus, alteration of intestinal flora may be associated with the development of GD.

IL1R1 Polymorphisms are Associated with Lumbar Disc Herniation Risk in the Northwestern Chinese Han Population.

BackgroundThe aim of this study was to assess the association of single-nucleotide polymorphisms (SNPs) in IL1R1 with the risk of lumbar disc herniation (LDH) in the Han population in northwest China.Material/MethodsTo estimate the association of IL1R1 polymorphisms with LDH risk, Agena MassARRAY was used to determine the genotypes of 498 LDH patients and 463 controls. The association between IL1R1 variants and LDH risk was examined by logistic regression analysis with adjustments for age and gender. Stratification analysis was observed between gender and age with polymorphisms of IL1R1. Haplotype construction and analysis in IL1R1 were also applied to detect the potential association.ResultsThe mutant homozygous genotype in codominant model (AA versus GG, OR=2.37, 95% CI: 1.08–5.21, P=0.001) and in recessive model (AA versus GG/GA, OR=2.82, 95% CI: 1.30–6.12, P=0.005) of rs956730 were associated with an increased LDH risk in males, while rs956730 heterozygous genotype under codominant model (AG versus GG, OR=0.65, 95% CI: 0.46–0.92, P=0.001) was a protective genotype in males. In addition, the recessive model (CT/CC versus TT, OR=3.43, 95% CI: 1.11–10.57, P=0.020) of rs10490571 was associated with an increased LDH risk among people older than 50 years of age.ConclusionsThis study demonstrated that genetic variants in the IL1R1 genes were associated with LDH risk in the Han population of northwestern China.

Development of a new 25plex STRs typing system for forensic application.

We have developed a novel STR 25-plex florescence multiplex-STR kit (DNATyper25) to genotype 23 autosomal and two sex-linked loci for forensic applications and paternity analysis. Of the 23 autosomal loci, 20 are non-CODIS. The sex-linked markers include a Y-STR locus (DYS391) and the Amelogenin gene. We present developmental validation studies to show that the DNATyper25 kit is reproducible, accurate, sensitive, and robust. Sensitivity testing showed that full profiles were achieved with as low as 125pg of human DNA. Specificity testing demonstrated a lack of cross reactivity with a variety of commonly encountered non-human DNA contaminants. Stability testing showed that full profiles were obtained with humic acid concentration ≤60ng/μL and hematin concentration <400μM. For forensic evaluation, the 23 autosomal STRs followed the Hardy-Weinberg equilibrium. In an analysis of 509 Chinese (CN) Hans, we detected a combined total of 181 alleles at the 23 autosomal STR loci. Since these autosomal STRs are independent from one another, PM was 8.4528×10-22 , TDP was 0.999 999 999 999 999 999 999, CEP was 0.999 999 8395. The forensic efficiency parameters demonstrated that these autosomal STRs are highly polymorphic and informative in the Han population of China. We performed population comparisons and showed that the Northern CN Han has a close genetic relationship with the Luzhou Han, Tujia, and Bai populations. We propose that the DNATyper25 kit will be useful for cases where paternity analysis is difficult and for situations where DNA samples are limited in quantity and low in quality.

Analysis of the Yp11.2 Deletion Region of Phenotypically Normal Males with an AMELY-Null Allele in the Chinese Han Population

Aim: The amelogenin gene is a widely used gender marker for forensic DNA profiling. Males who have the amelogenin Y (AMELY) allele deletion can be mistakenly identified as females if genotyping is performed only on the amelogenin gene. The aim of this study was to investigate the frequency of the AMELY allele deletion in the Chinese Han population and analyze the possible genetic variation on the Y chromosome. Materials and Methods: The amelogenin gene of 12,735 unrelated males from the Chinese Han population were genotyped using common forensic short tandem repeat (STR) kits. The AMELY allele deletion was verified by redesigned primers and sequencing. Eighteen Y-specific sequence tagged sites (STSs) on the Yp11.2 region were selected to delineate the deletion breakpoints on the Y chromosome. Results: Three males were confirmed to have no AMELY allele. The frequency rate of the AMELY-null allele was 0.236% (3/12,735) in the Chinese Han population of Central China; 2.73 Mb of sequence on the Y chromosome were absent in all the AMELY-negative samples. The deleted region was mapped using SRY, AMELY, 5 Y-STRs, and 18 STSs, which belong to the class I deleted pattern. The three unrelated males shared the same Y-STR haplotype with four males from other Chinese populations, all of whom have the AMELY-null allele. The haplogroup of these males was identified as the O3 haplogroup. Conclusion: The AMELY allele deletion in the Chinese population was accompanied by the deletion of the Y-STR loci on the Yp11.2 region. Therefore, another Y-specific marker should be tested simultaneously when unknown samples are examined as part of a criminal investigation.

Association of CYP19A1 single-nucleotide polymorphism with digit ratio (2D:4D) in a sample of men and women from Ningxia (China)

Objectives2D:4D is an anthropometric indicator that may reflect the level of intrauterine sexual hormone exposure before birth. The aromatase gene (CYP19A1) mainly encodes cytochrome P450 aromatase, a key enzyme that catalyzes the conversion of androgens to estrogens in vivo and affects the development of 2D:4D. Studying the association between six single-nucleotide polymorphisms (SNPs) in CYP19A1 and digit ratios in the normal population of China will provide some basis for the biological basis of digit ratio development and promote the practical application of digit ratios. MethodsIn this study, six SNPs (rs10046, rs2414095, rs4646, rs4775936, rs749292 and rs936306) in CYP19A1 were tested in 1949 students (692 males and 1247 females) by TaqMan SNP genotyping in Ningxia, China. The digit ratios (right and left 2D:4D and right-left 2D:4D [Dr-l]) of all participants were collected using a photographic record. ResultsThe frequencies of the genotypes rs2414095 (P < 0.05), rs10046 (P < 0.01) and rs4775936 (P < 0.05) in the CYP19A1 gene and their allele frequencies were significantly different between the Hui and Han populations, and the frequency of the rs2414095 genotype (P < 0.05) was significantly different between males and females in Ningxia, China. There was a sex difference in right and left 2D:4D and in Dr-l. There was no significant association between the six SNPs of the CYP19A1 gene and right and left 2D:4D, although rs4775936 showed a lower 2D:4D ratio in allele T than in allele C, in both male and female subjects. For Dr-l we found that rs4775936 associated with increased Dr-l in females (t787 = −2.441, P < 0.05). ConclusionsWe found the different frequencies of rs10046, rs2414095 and rs4775936 between Hui and Han populations in China. There was an association between rs4775936 and Dr-l. We discuss the implications of this association for links between Dr-l and rs4775936 and prenatal sex steroids and for susceptibility to breast cancer.

Population genetics of 15 autosomal STR loci in the Han population of Ili Kazakh Autonomous Prefecture, Northwestern China.

China harbors 56 ethnic groups and Han accounts for >92% of the total Chinese population. We investigated the frequencies of 15 autosomal short tandem repeat (STR) loci in the Han population of the Ili Kazakh Autonomous Prefecture with the aim of expanding the available population information in human genetics databases and for forensic DNA analysis. We explored the genetic characteristics of 15 autosomal STR loci in 552 unrelated Chinese Han individuals from Ili Kazakh Autonomous Prefecture, Northwestern China using the AmpFISTR Identifiler PCR Amplification Kit. Moreover, phylogenetic analysis was performed between the Han population and other relevant populations based on the autosomal STR genotyping. The neighbor-joining tree and principle component analysis were generated based on the Nei's standard genetic distance and allelic frequencies, respectively. A total of 171 alleles were observed among 552 unrelated individuals and allelic frequencies ranged from 0.5145 to 0.0009. The combined power of discrimination and combined power of exclusion of the 15 autosomal STR loci were 0.9999999999999999964 and 0.999998243616671, respectively. Population comparison revealed that the Ili Han population were lining up together with other Han populations in China while showing significant differences from other Chinese and worldwide populations.

Polymorphism and Forensic Application Value of 71 Y-SNP Loci in Han Population of Northwest China.

To analyze the polymorphism of 71 SNP loci on Y chromosome in Han population of Northwest China, to assess its forensic application value, and to screen out Y-SNP loci for forensic examination of Han population in East, South, and Northwest China based on the integration of previous research results. Multiplex polymerase chain reaction （PCR） and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry （MALDI-TOF-MS） were performed on 71 Y-SNP loci of 202 unrelated Han male individuals in Northwest China. Gene diversity （GD） and haplotype diversity （HD） values were calculated, and then Y-SNP loci of Han population in East, South, and Northwest China were screened with the combination of data from previous research. Among the detected 71 loci, 67 loci were polymorphic in the Northwest Han male population, with GD values 0.010 0-0.502 2. There were 22 and 25 loci with a moderate （0.2≤GD<0.3） and high （GD≥0.3） amount of genetic information, respectively. There were 26 loci for the Han communities in Northwest, South, and East China. Y-SNP loci are potential in paternity testing and individual identification, as well as the judgement of population distribution and migration.

Association Study of the Caspase Gene Family and Psoriasis Vulgaris Susceptibility in Northeastern China.

Background Abnormal apoptosis of keratinocytes is one of the pathological changes of psoriasis. Caspases (CASPs) are the central engines of apoptosis. Studies to date have shown that some SNPs alter the expression of related genes and lead to changes in disease risk. However, no studies have investigated the associations between gene polymorphisms and the risk of psoriasis in Han population in northeast China. Therefore, we conducted a case-control study to explore this question in Han population of northeastern China. Methods 540 patients with PsV and 612 healthy age- and sex-matched controls were enrolled in this study. We determined the genotypes of 17 single nucleotide polymorphisms (SNPs) from 11 genes of caspase family by the improved multiplex ligation detection reaction (iMLDR) method. A model-based single SNP frequentist test and haplotype association studies were performed to evaluate the association between SNPs and PsV. Results In the single SNP tests, rs6704688 in CASP8 was significantly associated with psoriasis vulgaris (PsV) in Han population of northeastern China (P = 0.0169, P' = 0.0179 under the additive model; P = 0.0126, P' = 0.0149 under the heterozygous model). In haplotype analyses, the CASP7 haplotype GC was found to be associated with PsV risk (case group versus control group, 47.2% versus 54.4%, respectively, p = 0.0149). Conclusions Our study presented that the gene polymorphisms of CASP7 and CASP8 were significantly associated with PsV in Han population of northeastern China, which implied the functional relationship between PsV and caspase genes. CASP8 and CASP7 SNPs could be new potential biomarkers for risk stratification and prevention of PsV.

Prevalence and risk factors of refractive error: a cross-sectional Study in Han and Yi adults in Yunnan, China

BackgroundFew studies have investigated the prevalence of refractive error (RE) in older adults in China, and most have focused on East China. Our study determined the prevalence and risk factors of RE in Han and Yi adults aged 40–80 years in rural and urban areas in Yunnan Province, Southwest China.MethodsOur cross-sectional study is part of the China National Health Survey (CNHS). The age-adjusted prevalence rates of RE in Han and Yi adults aged 40–80 years in Yunnan were compared. We used a multivariate logistic regression model to identify risk factors for myopia and hyperopia.ResultsAmong 1626 participants, the age-adjusted prevalence rates of myopia, hyperopia, high myopia and astigmatism were 26.35% (95%CI 24.01–28.70%), 19.89% (95%CI 18.16–21.61%), 2.64% (95%CI 1.75–3.53%), and 56.82% (95%CI 54.31–59.34%). Compared to the Yi population, the Han population had higher prevalence of myopia (31.50% vs 16.80%, p < 0.0001), high myopia (3.34% vs 1.31%, p = 0.049) and astigmatism (60.07% vs 50.67%, p = 0.026) but lower prevalence of hyperopia (16.58% vs 27.37%, p < 0.0001). In the multivariate logistic regression, individuals aged 45–49 (p < 0.001), 50–54 (p < 0.001), 55–59 (p = 0.014), and 60–64 years (p = 0.005) had a lower myopia risk than those aged 40–44 years, and individuals aged 50–54 (p = 0.002), 55–59, 60–64 and 65 years and older (all p < 0.001) had a higher hyperopia risk than those aged 40–44 years. Myopia was also associated with height (p = 0.035), time spent in rural areas (p = 0.014), undergraduate/graduate education level (p = 0.001, compared with primary school or lower education level) and diabetes (p = 0.008). The Yi population had a higher risk of hyperopia than the Han population (p = 0.025). Moreover, hyperopia was related to time spent in rural areas (p < 0.001) and pterygium (p = 0.019).ConclusionsOur study investigated the overall prevalence of RE in older adults in rural and urban areas of Southwest China. Compared to the Yi population, the Han population had a higher prevalence of myopia, high myopia and astigmatism but a lower risk of hyperopia. The prevalence of myopia in the Han population in underdeveloped Southwest China was similar to that of residents in East China or of Chinese Singaporeans under urban or rural settings.

Differences in brain-derived neurotrophic factor gene polymorphisms between acute ischemic stroke patients and healthy controls in the Han population of southwest China.

Single-nucleotide polymorphisms in the brain-derived neurotrophic factor gene may affect the secretion and function of brain-derived neurotrophic factor, thereby affecting the occurrence, severity and prognosis of ischemic stroke. This case-control study included 778 patients (475 males and 303 females, mean age of 64.0 ± 12.6 years) in the acute phase of ischemic stroke and 865 control subjects (438 males and 427 females, mean age of 51.7 ± 14.7 years) from the Department of Neurology, West China Hospital, Sichuan University, China between September 2011 and December 2014. The patients' severities of neurological deficits in the acute phase were assessed using the National Institutes of Health Stroke Scale immediately after admission to hospital. The ischemic stroke patients were divided into different subtypes according to the Trial of Org 10172 in Acute Stroke Treatment classification. Early prognosis was evaluated using the Modified Rankin Scale when the patients were discharged. Genomic DNA was extracted from peripheral blood of participants. Genotyping of rs7124442 and rs6265 was performed using Kompetitive Allele Specific polymerase chain reaction genotyping technology. Our results demonstrated that patients who carried the C allele of the rs7124442 locus had a lower risk of poor prognosis than the T allele carriers (odds ratio [OR] = 0.67; 95% confidence interval [CI]: 0.45-1.00; P = 0.048). The patients with the CC or TC genotype also exhibited lower risk than TT carriers (OR = 0.65; 95% CI: 0.42-1.00; P = 0.049). The AA genotype at the rs6265 locus was associated with the occurrence of ischemic stroke in patients with large-artery atherosclerosis (OR = 0.58; 95% CI: 0.37-0.90; P = 0.015). We found that the C allele (CC and TC genotypes) at the rs7124442 locus may be protective for the prognosis of ischemic stroke. The AA genotype at the rs6265 locus is likely a protective factor against the occurrence of ischemic stroke in patients with large-artery atherosclerosis. The study protocol was approved by the Ethics Committee of West China Hospital of Sichuan University, China (approval ID number 2008[4]) on July 25, 2008.

The distributions of HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 allele and haplotype at high-resolution level in Zhejiang Han population of China.

The distributions of HLA allele and haplotype are variable in different ethnic populations and the data for some populations have been published. However, the data on HLA-C and HLA-DQB1 loci and the haplotype of HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 loci at a high-resolution level are limited in Zhejiang Han population, China. In this study, the frequencies of the HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 loci and haplotypes were analysed among 3,548 volunteers from the Zhejiang Han population using polymerase chain reaction sequencing-based typing method. Totals of 51 HLA-A, 97 HLA-B, 45 HLA-C, 53 HLA-DRB1 and 27 HLA-DQB1 alleles were observed. The top three frequent alleles of HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 loci were A*11:01 (23.83%), A*24:02 (17.16%), A*02:01 (11.36%); B*40:01 (14.08%), B*46:01 (12.20%), B*58:01 (8.50%); C*07:02 (18.25%), C*01:02:01G (18.15%), C*03:04 (9.88%); DRB1*09:01 (17.52%), DRB1*12:02 (10.57%), DRB1*15:01 (9.70%); DQB1*03:01 (22.63%), DQB1*03:03 (18.26%) and DQB1*06:01 (10.88%), respectively. A total of 141 HLA-A-C-B-DRB1-DQB1 haplotypes with a frequency of ≥0.1% were found and the haplotypes with frequency greater than 3% were A*02:07-C*01:02:01G-B*46:01-DRB1*09:01-DQB1*03:03 (4.20%), A*33:03-C*03:02-B*58:01-DRB1*03:01-DQB1*02:01 (4.15%), A*30:01-C*06:02-B*13:02-DRB1*07:01-DQB1*02:02 (3.20%). The likelihood ratios test for the linkage disequilibrium of two loci haplotypes was revealed that the majority of the pairwise associations were statistically significant. The data presented in this study will be useful for searching unrelated HLA-matched donor, planning donor registry and for anthropology studies in China.

The Impact of IL-16 3'UTR Polymorphism rs859 on Lung Carcinoma Susceptibility among Chinese Han Individuals.

Lung carcinoma is the most common cancer and cause of cancer deaths among both males and females in China. Previously, genetic variants located in gene untranslated region have been well established as interfering factors in mRNA translation and confirmed playing critical roles in lung oncogenesis. However, the correlation between polymorphisms in gene 3′ untranslated region and lung cancer risk is less reported in China Han population. In this study, polymorphisms in 3′-untranslated region of IL-16, CYP24A1, and FBN1 were determined in 322 lung cancer patients and 384 healthy controls with the usage of Sequenom MassARRAY. The correlation between selected variants and lung cancer risk was examined by unconditional logistic regression analysis with or without adjustments for age, gender, smoking status, and alcohol drinking status. Additionally, stratification analysis was applied to detect the associations of SNPs with lung cancer in different subgroups. As the results, significant relationships were found between IL-16 rs859 and lung cancer susceptibility in recessive model (OR= 0.65, 95% CI: 0.44-0.96, P= 0.029) and log-additive model (OR= 0.76, 95% CI: 0.60-0.96, P= 0.019). Moreover, adjusted stratified analysis also revealed the important effects of IL-16 rs859 on lung cancer risk among individuals aged older than 50, males, and nondrinkers. IL-16 rs859 showed statistically significant evidence associated with susceptibility to lung adenocarcinoma and lung small cell carcinoma in Chinese Han population as well. Our research demonstrated that genetic variant rs859 of IL-16 3′UTR was associated with lung cancer risk in Chinese Han population and the result might be exploited as a new biomarker for lung cancer assessment and prevention.

A8864 Two novel polymorphisms of the CNKSR3 gene is associated with essential hypertension in Han population

Objectives: Kinase suppressor of ras 3 (CNKSR3) was a direct mineralocorticoid receptor (MR) target gene that is up-regulated in response to physiological concentrations of aldosterone. The aim of the present study was to assess the association between the human CNKSR3 gene polymorphism and essential hypertension in a Han population of China. Methods: We use 422 control subjects and 1868 confirmed essential hypertension subjects. All patients and controls were genotyped for the same three single nucleotide polymorphisms SNPs (rs11541340, rs4870285 and rs7757161) of CNKSR3 gene by a real-time PCR instrument. Results: In the Han population, the distribution of rs11541340 and rs7757161 genotypes showed a significant difference between essential hypertension and control subjects (P = 0.044 and p = 0.008). There was a significant difference between essential hypertension and control participants (P = 0.013 and P = 0.002) in rs11541340 recessive model (GGvs CG +), even after adjustment for covariates (OR: 2.22, 95% confidence interval [CI]: 1.157–4.259, P = 0.016). The distribution of rs7757161 C alleles showed a difference between essential hypertension and control participants (for alleles P = 0.042). Conclusion: The GG genotype of rs11541340 in CNKSR3 gene could be a protective genetic marker while the C alleles of rs7757161 in CNKSR3 gene could be a protective genetic marker of essential hypertension of Han population in China.

GW29-e1537 A novel polymorphism of the APLP2 gene is associated with coronary artery disease in Han population in China

GW29-e1537 A novel polymorphism of the APLP2 gene is associated with coronary artery disease in Han population in China

Genetic variants in lncRNA HOTAIR are associated with lung cancer susceptibility in a Chinese Han population in China: a case-control study.

PurposeHOX transcript antisense RNA (HOTAIR) plays important roles in carcinogenesis of various kinds of malignant tumors, including lung cancer. Single nucleotide polymorphisms (SNPs) in HOTAIR were reported to be associated with susceptibility of several kinds of cancers. The present study assessed the associations between three SNPs (rs4759314, rs12826786, and rs920778) and lung cancer susceptibility, as well as gene–environment interaction between smoking exposure and the polymorphisms.Patients and methodsA case–control study including 551 patients and 543 healthy controls was performed. The associations between SNPs and lung cancer susceptibility were assessed by logistic regression model.Resultsrs4759314 was observed to increase the susceptibility of lung cancer, lung adenocarcinoma, squamous lung cancer, and small cell lung cancer statistically significantly (OR of 4.048 for lung cancer; 3.584 for lung adenocarcinoma; 4.671 for squamous lung cancer; 4.502 for small cell lung cancer). In stratified analysis for sex and smoking exposure, rs4759314 GG and AG genotype was also observed to increase the risk of lung cancer statistically significantly (OR of 5.221 for male; 3.491 for female; 3.653 for nonsmoking individuals; 4.458 for smoking individuals). Results of gene–environment interaction analysis showed that there was no interaction between smoking exposure and rs4759314 on additive scale. Results of logistic regression model suggested that the interaction between smoking and rs4759314 was statistically significant on multiplicative scale. rs12826786 CT genotype carriers and T allele could decrease the risk of developing lung cancer (OR of 0.751 for CT carriers; 0.785 for T allele), and in dominant model, TC and TT genotype carriers also have a 0.249-fold decrease risk compared with CC genotype carriers. In stratified analysis for smoking exposure, TC and TT have a 0.432-fold decreased risk compared with CC genotype carriers.ConclusionHOTAIR rs4759314 and rs12826786 were associated with lung cancer susceptibility in Chinese Han population.

Association between dietary patterns and hypertension among Han and multi-ethnic population in southwest China

BackgroundDifferent dietary patterns and the risks of hypertension in various diet exposures among multi-ethnic population in southwest China remain extremely scarce. The aim of this study is to identify dietary patterns and explore the association between dietary patterns and the risk of hypertension among Han and multi-ethnic population in southwest China.MethodsA representative sample of 3591 participants of Han, and multi-ethnic population were recruited by stratified cluster sampling in Diqing of Yunnan Province, southwest China from September 2012 to January 2013. Participants who were under 18 years old or who could not clearly answer the questions and those who used the anti-hypertensive medication were excluded from this survey. All participants reported their dietary intakes using validated food frequency questionnaires (FFQ), and their blood pressures were measured by standardized procedures. Hypertension was defined as systolic blood pressure (SBP) ≥ 140 mmHg and/or diastolic blood pressure (DBP) ≥ 90 mmHg. Dietary patterns were identified by factor analysis with principal component. Logistic regression was used to explore the association between dietary patterns and hypertension.ResultsThe overall prevalence of hypertension was 30.5% among Han and multi-ethnic population in Diqing, Yunnan Province. Three dietary patterns were identified in this study, defined as ‘Grassland healthy’, ‘Tuber and meat’, and ‘Fruit and vegetable’. Participants in the 5th quintile of the three dietary patterns were at a lower risk of hypertension compared with those in the 1st quintile. The odds ratio (OR) for the 5th quintile of ‘Grassland healthy’ pattern, ‘Tuber and meat’ and ‘Fruit and vegetable’ was 0.693 (95% CI: 0.537–0.893, p = 0.005), 0.678 (95% CI: 0.530–0.868, p = 0.002), 0.759 (95% CI: 0.593–0.970, p = 0.028), respectively. After further adjustment of participants’ age, the negative association between the ‘Grassland healthy’ pattern and the prevalence of hypertension persisted (OR = 0.703, 95% CI: 0.535–0.924, p = 0.012). However, the significant associations between the other two dietary patterns and hypertension disappeared.ConclusionsThe ‘Grassland healthy’ dietary pattern is associated with lower risk of hypertension, whereas there is no significant associations between the other two dietary patterns and hypertension among Han and multi-ethnic population in Diqing of Yunnan province, southwest China.

Genetic diagnosis of acute aortic dissection in South China Han population using next-generation sequencing.

Acute aortic dissection (AAD) is a clinically "silent," but emergent and life-threatening cardiovascular disease, and hereditary factors play an important etiologic role in the development of AAD. The purposes of this study are to definitize the diagnostic yield of 59 AAD patients, investigate the molecular pathological spectrum of AAD by NGS, and explore the future preclinical prospects of genetic diagnosis on AAD high-risk groups. We performed next-generation sequencing (NGS) based on screening of the 69 currently aortic dissections/aneurysms-associated genes on 59 sporadic AAD samples from South China. A Kaplan-Meier survival curve was constructed to compare the event-free survival depending on variant number. Overall, 67 variants were detected in 39 patients, among which 4 patients were identified with pathogenic variants and 13 patients were diagnosed with likely pathogenic variants. Seventeen genotype positive patients were identified in aggregate, and the diagnostic yield of our study is 28.8%. All genotype-positive variants were distributed in 11 genes, FBN1 variants were in the largest number among genotype-positive variants, which were detected for 4 times, ACTA2 for 3 times, ABCC6 and TGFBR1 twice, and NOS3, MYLK, XYLT1, TIMP4, TGFBR2, CNTN3, and PON1 once. Individuals with three or more variants showed shorter mean event-free survival than patients with fewer variants. Our observations broaden the genetic pathological spectrum of AAD. Furthermore, our research uncovered two susceptibility genes FBN1 and ACTA2 for Stanford type A AAD patients. Finally, our study concluded that the number of variants an individual harbored was an important consideration in risk stratification for individualized prediction and disease diagnosis.