Single nucleotide polymorphisms (SNPs) have been very widely used in the study of diseases and characters since the completion of the Human Genome Project. SNPs are mostly used as mere genetic markers in studying complex disease. Geneticists began to focus on the direct relationship between SNPs and complex diseases after the "Encyclopedia Of DNA Elements Project". SNPs can pay a regulative role alone, while the collected SNPs in genome can significantly affect the biological characters and disease development.
DNA ; Disease ; genetics ; Humans ; Polymorphism, Single Nucleotide

Background. Low levels of high-density lipoprotein cholesterol (HDL-c) is a well-recognized risk factor in the development of cardiovascular diseases. Associated gene variants for low HDL-c have already been demonstrated in various populations. Such associations have yet to be established among Filipinos who reportedly have a much higher prevalence of low HDL-c levels compared to other races.

Objective. To determine the association of selected genetic variants and clinical factors with low HDL-c phenotype in Filipinos.

Methods. An age- and sex-matched case-control study was conducted among adult Filipino participants with serum HDL-c concentration less than 35 mg/dL (n=61) and those with HDL-c levels of more than 40 mg/dL (n=116). Genotyping was done using DNA obtained from blood samples. Candidate variants were correlated with the low HDL-c phenotype using chi-squared test and conditional logistic regression analysis.

Results. Twelve single nucleotide polymorphisms (SNPs) were associated with low HDL-c phenotype among Filipinos with univariate regression analysis. The variant rs1260326 of glucokinase regulator (GCKR) (CT genotype: adjusted OR=5.17; p-value=0.007; TT genotype: adjusted OR=6.28; p-value=0.027) remained associated with low HDL-c phenotype, together with hypertension and elevated body mass index, after multiple regression analysis.

Conclusion. The variant rs1260326 near GCKR is associated with low HDL-c phenotype among Filipinos. Its role in the expression of low HDL-c phenotype should be further investigated prior to the development of possible clinical applications.

Humans ; Polymorphism, Single Nucleotide ; Rhinitis, Allergic ; genetics

Male infertility is a complex disease affecting the reproduction of childbearing couples, for which genetic polymorphism of spermatogenesis genes is an important genetic pathogenic factor. Lots of genes closely related with spermatogenesis have been successfully identified through the gene knockout technology. Spermatogenesis impairment related genes include those associated with expression enzymes, receptors, cell apoptosis, transcription regulation, and so on. The genetic susceptibility of these genes, infection, and environment jointly contribute to non-obstructive azoospermia and oligozoospermia in males. The analysis of the single nucleotide polymorphism (SNP) of spermatogenesis impairment related genes helps explain the possible mechanism of pathogenesis at the molecular level, and provides theoretical evidence for the clinical diagnosis and treatment of male infertility. The article focuses on the correlation of the SNPs of spermatogenesis impairment related genes with azoospermia and oligozoospermia.
Humans ; Infertility, Male ; genetics ; Male ; Oligospermia ; genetics ; Polymorphism, Single Nucleotide

Haplotypes ; Humans ; Neoplasms ; genetics ; Polymorphism, Single Nucleotide ; genetics

OBJECTIVETo investigate the sequence polymorphism of mtDNA HV1,HV2 overlapping fragments and coding region encompassing position 8430-8673 in Hebei Han population.

METHODSPolymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with sequencing method was used to detect the haplotype distribution of mtDNA in 100 Hebei Han individuals.

RESULTSNinety-one haplotypes were noted in 100 unrelated individuals. The gene diversity is 0.9985 and the random match probability is 0.0115. Compared with the Anderson sequence, 65 sites of different nucleotide sequences were noted, of which 44 sites were previously registered in MITOMAP, 12 sites were not registered and the gene mutations were different from MITOMAP at 9 positions.

CONCLUSIONThe obtained data suggest that these loci are valuable genetic markers for personal identification and thus could be used as basic data for the forensic application of mtDNA in Hebei province.

No abstract available.
*Gene Amplification ; *Gene Deletion ; *Polymorphism, Single Nucleotide ; Stomach Neoplasms/*genetics

Colorectal Neoplasms ; genetics ; Genome-Wide Association Study ; Polymorphism, Single Nucleotide

Single nucleotide polymorphisms (SNPs) is a new genetic marker system following RFLP and microsatellite polymorphism. It has been shown to have the characteristics of high-density, inheritance stability and facilitation in analysis automation. SNPs can be detected by electrophoresis, endonuclease-cleavage, PCR and sequencing, and can be used extensively in gene mapping, disease-correlativity analysis, population genetics and drug research.
Chromosome Mapping ; Genetic Markers ; Genetics, Population ; Humans ; Polymorphism, Single Nucleotide

Objective To evaluate the effectiveness of single nucleotide polymorphism （SNP） genoty-ping in combination with identity by state （IBS） strategy in full sibling testing. Methods Thirty-five blood samples were collected from a four-generation family. Ninety autosomal SNPs were genotyped using Precision ID Identity Panel. The distribution of IBS scores for full siblings and other relationships were calculated and compared. The relationships were determined using Fisher discriminant function and threshold method, respectively. Results Based on family members and previous research, 44, 30, 111, 71 and 1 000 pairs of full siblings （FS）, grandparent-grandchild （GG）, uncle/aunt-nephew/niece （UN）, first cousins （FC） and unrelated individuals （UI） were obtained, respectively. The average IBS scores were 148, 130, 132, 124 and 120, respectively. Except for the GG and UN pairs, the distribution differences among the other relationships had statistical significance （P<0.05）. The false rates of Fisher discriminant function to determine relationships were 1.3%, 22.3%, 17.0% and 38.7% for FS, GG, UN and FC, respectively. Based on the simulation data, the thresholds t₁=128 and t₂=141 were recommended to determine full sibling relationships （the false rate ≤0.05%）. Conclusion The 90 SNP genetic markers included in the Precision ID Identity Panel meet the testing requirements for full sibling relationships. The threshold method based on IBS has a relatively lower false rate and is more flexible.
Genotype ; Genotyping Techniques/methods* ; Humans ; Polymorphism, Single Nucleotide/genetics* ; Siblings