42 results about "Risk allele" patented technology

The present invention relates to diagnostic methods for assessing predisposition of a subject to a mental disorder phenotype having an association with an at-risk allele of a brain-functional gene having a plurality of alleles, the association being conditioned by a pathogenic environmental risk factor status condition. Additionally, the invention relates to methods for discovering a conditional association between a mental disorder phenotype and an at-risk allele of a brain-functional gene having a plurality of alleles, the association being conditioned by a pathogenic environmental risk factor status condition.

The present invention relates to method and computer systems that provide a personal genome indexer. The present invention provides an output that allows individuals to access publically available scientific resources through the “prism” of their unique genetic code. Individual genetic information is indexed with information from public databases (e.g., PubMed database) that contain genetic information about the condition and the risk allele, and public databases (e.g., MedLinePlus database) that provide information about the condition. In an aspect, the present invention provides an output display that correlates an individual's specific risk alleles with genetic information and associated phenotypic condition based on one or more references from a publically accessible database, and / or a link to consumer health information about the phenotypic condition.

The present invention relates to diagnostic methods for assessing predisposition of a subject to a mental disorder phenotype having an association with an at-risk allele of a brain-functional gene having a plurality of alleles, the association being conditioned by a pathogenic environmental risk factor status condition. Additionally, the invention relates to methods for discovering a conditional association between a mental disorder phenotype and an at-risk allele of a brain-functional gene having a plurality of alleles, the association being conditioned by a pathogenic environmental risk factor status condition.

The invention discloses a construction method and a construction system for a type 2 diabetes mellitus risk assessment model. The method comprises the following steps that: (1) selecting an SNP (Single Nucleotide Polymorphisms) locus related to type 2 diabetes mellitus; (2) calculating the risk degree, i.e., an OR (Odds Ratio) value, of the SNP locus; (3) calculating the frequency of the SNP locus in an East Asia population; (4) calculating the epidemiology prevalence rate of the type 2 diabetes mellitus; and (5) according to a Bayesian algorithm and a Hardy-Weinberg equilibrium principle, constructing the risk assessment model. The model of the invention calculates the mathematical expectation value and the OR value of the risk allele amount of the population, the epidemiology prevalence rate of the type 2 diabetes mellitus is combined to obtain the average prevalence rate and the confidence interval of a group on the basis of inheritance, a new construction method for the type 2 diabetes mellitus risk assessment model is provided, so that the prevalence risk of the type 2 diabetes mellitus more approaches to a true situation, and a result is more scientific and reasonable. By use of the method, high-risk population screening accuracy is improved, the prevalence rate of the type 2 diabetes mellitus is expected to be lowered, and a great quantity of expenditures can be saved for the nation and society so as to benefit the nation and the people.

There are provided a DNA oligomer, a genetic marker, and a DNA oligomer set (PCR primer set) and a DNA oligomer (extension primer) for predicting a possibility of onset of a side-effect from radiation therapy for cancer by determining whether a specific base in a DNA sequence is a risk allele or a non-risk allele, and a method for predicting onset of a side-effect from radiation therapy. The DNA oligomer for a prediction of onset of a side-effect from radiation therapy has a DNA sequence of at least 10-241 contiguous bases with a 121st base from a sequence of any one of SEQ ID NOs: 1-173 in the Sequence Listing.

The present invention relates to diagnostic methods for assessing predisposition of a subject to a mental disorder phenotype having an association with an at-risk allele of a brain-functional gene having a plurality of alleles, the association being conditioned by a pathogenic environmental risk factor status condition. Additionally, the invention relates to methods for discovering a conditional association between a mental disorder phenotype and an at-risk allele of a brain-functional gene having a plurality of alleles, the association being conditioned by a pathogenic environmental risk factor status condition.

Methods and kits for assessing severity index for alcohol abuse, drug abuse, and other reward deficiency syndromes. It has been discovered that a multifaceted non-specific RDS behaviors should be considered as the true “reward” phenotype (endophenotype) instead of a single subset RDS behavior such as alcoholism. In an embodiment of the present invention, it has been discovered that there are at least eleven risk alleles associated with ten candidate genes. The methods and kits of the present invention satisfy the need to classify patients at genetic risk for drug / alcohol seeking behavior prior to or upon entry to residential and or non-residential chemical dependency and pain programs.

The present invention relates to a method and a kit for identifying a subjects macronutrient sensitivity. The method involves assaying a genetic sample from the subject to determine a polymorphism profile, analysing the polymorphism profile to identify risk alleles and determining the macronutrient sensitivity based on the number of risk alleles present. This information can be used for determining an appropriate diet to induce satiety, formulating a diet for inducing satiety, or for treating a range of medical complaints associated with metabolism.

The present invention relates to a method for evaluating the level of risk for a subject to develop autism, or an autism spectrum disorder, which method comprises determining the number of risk alleles in autism-associated gene loci in a sample of a subject, wherein the more risk alleles are detected within said gene loci combined, the more increased is the risk of developing autism or an autism-spectrum disorder.

The invention relates to a method of detecting the presence of or predisposition to autism, or to an autism spectrum disorder in a subject, the method comprising detecting the combined presence of an alteration in the gene loci of at least PITX1, ATP2B2, EN2, JARID2, MARK1, ITGB3, CNTNAP2, and HOXA1 in a sample from said subject.

The invention relates to gene single nucleotide polymorphic sites related to asthma, a kit for treating asthma and an application of the kit. By carrying out genetic typing and single point and high order interaction and multi-site synergistic effect analysis on nine gene single nucleotide polymorphic sites, the result verifies that IL13 R110Q G, IL4-590C>T T, ADRB2 R16G A and FcER1B E237G G which are related to asthmatic pathogenesis of Chinese Han children are respectively risk alleles, and the risk factor of suffering from asthma by carrying four risk allele homozygotes is greatly improved; IL13 R110Q G, IL4-590C>T T, ADRB2 R16G A and FcER1B E237G G have a remarkable synergistic effect on risk of asthmatic pathogenesis. A reagent for detecting the four sites can be used for predicting asthma of Chinese Han children.

A method and kit for determining an increased risk of developing myopia in a subject is provided by detecting an SNP in the BICD1 gene. The SNP is selected from a group consisting of rs10844126 (A / C), rs1151029 (A / T), rs2650122 (C / T), rs10771923 (A / G), rs1151009 (T / C), rs2125173 (A / G) and rs161959 (C / G). When the presence of the risk allele associated with myopia is detected at the SNP, the subject is determined in an increased risk of developing myopia.

A method of determining the presence or the absence of a glaucoma risk, including the steps of detecting in vitro an allele and / or a genotype of a single nucleotide polymorphism which is located on a 31st base of a base sequence, in a sample from a subject, wherein the base sequence is at least one base sequence selected from the group consisting of base sequences shown in SEQ ID NOs: 203 to 752 or a complementary sequence thereto (step A), and comparing the allele and / or the genotype detected in the step A with at least one of an allele and / or a genotype, containing a high-risk allele, in the base sequences shown in SEQ ID NOs: 203 to 752 (step B). According to the method of the present invention, the level of a progressive risk of glaucoma in a sample donor can be determined by analyzing an allele or a genotype of a single nucleotide polymorphism in the present invention in the sample, so that the sample donor can take a preventive measure of glaucoma, or can receive appropriate treatments, on the basis of this risk.

The invention provides methods and compositions for the treatment of a subject having a psychiatric disease or dis order based upon the subject's genotype and / or the number of risk alleles carried by the subject, which risk alleles have been found by the present inventors to predispose a subject to antipsychotic medication induced weight gain (AIWG). The methods of the inven tion also provide for different treatments, or different treatment regimens, for the subject depending on the subject's risk of AIWG. Related compositions, in the form of kits, systems, and computer-readable media are also provided.

Pharmacogenetic analysis revealed an effect of risk alleles in ARMS2 and CFH genes on the response of subjects to anti-C5 antibodies in the treatment of the progression of geographic atrophy.

There is provided a method of increasing GIPCR signalization in the cells of a subject in need thereof comprising administering to the subject an effective amount of an inhibitor of integrin alpha5betal expression and / or activity, whereby GiPCR signalization is increased in the cells of the subject. An inhibitor of integrin alph5betal may be, for example, an agent that inhibits the interaction between f osteopontin (OPN) and integrin alpha5betal. Also provided are methods of determining the risk of developing a scoliosis and based on the presence of at least one copy of a CD44 risk allele and methods of stratifying a subject having a scoliosis and kits for performing these methods. In particular, the method of determining risk identifies SNP rsl467558; an isoleucine to threonine mutation at position 230 of CD44.

The present invention relates to a method of detecting the presence of or predisposition to autism, or to an autism spectrum disorder, the method comprising detecting the presence of an alteration in the gene loci PITX1, ATP2B2, SLC25A12 and EN2 in a sample from said subject. More particularly, the presence of specific single nucleotide polymorphisms (SNPs) within these genes correlates to a substantially increased risk to develop autism.

The present invention relates to methods of determining an increased risk of a subject to acquire a trait of an obesity disorder or an obesity disorder, with the method comprising determining the genetic sequence of at least one taste receptor gene in the subject and reviewing the test genetic sequence(s) for the presence of at least one risk allele associated with at least one taste receptor. The presence of at least one difference in the test genetic sequence(s) and the presence of a risk allele associated with the taste receptor(s) may indicate an increased risk of the subject acquiring a trait of an obesity disorder or an obesity disorder.

The patent is a susceptible SNP site of an NTN1 gene and an application thereof and discloses a genotype of an SNP marker rs4791331 related to assisted diagnosis of non-syndromic cleft lip and palate. Two alleles exist: T and C, wherein the allele T is a risk allele and an application of the allele T in a diagnostic kit for non-syndromic cleft lip and palate is developed. The invention is conductive to comprehensively evaluating the effect of heritable variation in genesis and development and lapse of NSCO of Chinese Han populations and has important meaning in guiding NSOC high risk groups to prevent and screen.

The present invention identifies various risk alleles, particularly a risk allele of SNP rs918592, within the PDE4D gene as novel stroke associated risk markers. These markers may be used for identifying a subject's susceptibility to stroke and diagnosing a subject's susceptibility to a particular type of stroke based on the presence of the risk allele. The markers are found in the human population, particularly the human female population, across different ethnicities. The marker further reveals an environmental impact on a subject's susceptibility to stroke, showing a dose dependent relationship.

The invention discloses a primer group, kit and method for evaluating chronic cardiac failure prognosis, and belongs to the field of gene detection. The primer group comprises a first upstream primer,a first downstream primer, a second upstream primer, a second downstream primer, a third upstream primer, a third downstream primer, a fourth upstream primer, a fourth downstream primer, a fifth upstream primer, a fifth downstream primer, a sixth upstream primer, a sixth downstream primer, a seventh upstream primer, a seventh downstream primer, an eighth upstream primer and an eighth downstream primer. Genes amplified by the primer group correspond to eight risk alleles sensitive to prognosis correspondingly, and accuracy and comprehensiveness of the evaluated result can be ensured; and according to the method, by conducting sequencing and data interpretation on a target amplification region, mutations relevant to prognosis can be accurately identified, thus the variety and pathogenesis of diseases are judged, and a timely and reliable detection report is provided for clinic.

There is provided a method of increasing GIPCR signalization in the cells of a subject in need thereof comprising administering to the subject an effective amount of an inhibitor of integrin alpha5beta1 expression and / or activity, whereby GiPCR signalization is increased in the cells of the subject. An inhibitor of integrin alph5beta1 may be, for example, an agent that inhibits the interaction between f osteopontin (OPN) and integrin alpha5beta1. Also provided are methods of determining the risk of developing a scoliosis and based on the presence of at least one copy of a CD44 risk allele and methods of stratifying a subject having a scoliosis and kits for performing these methods. In particular, the method of determining risk identifies SNP rs1467558; an isoleucine to threonine mutation at position 230 of CD44.

Methods and kits for assessing severity index for alcohol abuse, drug abuse, and other reward deficiency syndromes. It has been discovered that a multifaceted non-specific RDS behaviors should be considered as the true “reward” phenotype (endophenotype) instead of a single subset RDS behavior such as alcoholism. In an embodiment of the present invention, it has been discovered that there are at least eleven risk alleles associated with ten candidate genes. The methods and kits of the present invention satisfy the need to classify patients at genetic risk for drug / alcohol seeking behavior prior to or upon entry to residential and or non-residential chemical dependency and pain programs.

The invention provides methods and compositions for the treatment of a subject having a psychiatric disease or disorder based upon the subject's genotype and / or the number of risk alleles carried by the subject, which risk alleles have been found by the present inventors to predispose a subject to antipsychotic medication induced weight gain (AIWG). The methods of the invention also provide for different treatments, or different treatment regimens, for the subject depending on the subject's risk of AIWG. Related compositions, in the form of kits, systems, and computer-readable media are also provided.

The application discloses application of an MT-2A gene SNP locus in detecting susceptibility to heavy-metal poisoning. The SNP locus is the 178th nucleotide of MT-2A genes, wherein G is greater than A, the sequence of the MT-2A genes is as shown in SEQ ID No.7. G and A of the SNP locus are significantly different between a case group and a control group, G is a susceptible allele or high-risk allele of cadmium poisoning, A is a non-susceptible allele or low-risk allele of the cadmium poisoning, so that the base type of the locus is detected and the genotype of the locus is determined, and thenthe susceptibility to the heavy-metal (such as cadmium) poisoning or risks of the heavy-metal poisoning can be detected, patients with the heavy-metal poisoning can be screened, susceptible genes ofthe heavy-metal poisoning can be identified or assisted, and single nucleotide polymorphism associated with the heavy-metal poisoning or metabolism can be detected. The application and product provided by the invention are of great value in identifying the susceptible population of the heavy-metal poisoning, thereby reasonably preventing the heavy-metal poisoning.

The application discloses the application of the MT-2A gene SNP site in the detection of susceptibility to heavy metal poisoning. The SNP site is G>A at the 178th nucleotide of the MT‑2A gene, and the sequence of the MT‑2A gene is shown in SEQ ID No.7. The G and A of the SNP loci are significantly different between the case group and the control group, wherein, G is a cadmium poisoning susceptible allele or a cadmium poisoning high risk allele, and A is a non-cadmium poisoning susceptible allele Genes or low-risk alleles for cadmium toxicity. Therefore, by detecting the base type of this site, judging the genotype of this site can be used to detect heavy metal (such as cadmium) poisoning susceptibility or heavy metal poisoning risk, screen patients with heavy metal poisoning, identify or assist in the identification of heavy metal poisoning susceptibility genes, Detection of single nucleotide polymorphisms associated with heavy metal toxicity or metabolism. The applications and products provided by the invention are of great value in the identification of susceptible groups to heavy metal poisoning, thereby reasonably preventing heavy metal poisoning.

Methods and kits for assessing severity index for alcohol abuse, drug abuse, and other reward deficiency syndromes. It has been discovered that a multifaceted non-specific RDS behaviors should be considered as the true “reward” phenotype (endophenotype) instead of a single subset RDS behavior such as alcoholism. In an embodiment of the present invention, it has been discovered that there are at least eleven risk alleles associated with ten candidate genes. The methods and kits of the present invention satisfy the need to classify patients at genetic risk for drug / alcohol seeking behavior prior to or upon entry to residential and or non-residential chemical dependency and pain programs.

The application discloses the application of a TRPV5 gene SNP site in detecting susceptibility to heavy metal poisoning. The SNP site is G>A at the 654th nucleotide of the TRPV5 gene, and the sequence of the TRPV5 gene is shown in SEQ ID No.10. The difference between G and A of the SNP site between the high blood lead group and the low blood lead group is extremely significant, wherein, G is a lead poisoning susceptibility allele or a lead poisoning high risk allele, and A is a non-lead poisoning Susceptibility allele or lead poisoning low risk allele. Therefore, by detecting the base type of this site and judging the genotype of this site, it can be used to detect the susceptibility or risk of heavy metal poisoning (such as lead) poisoning, screen patients with heavy metal poisoning, identify or assist in the identification of heavy metal poisoning susceptibility genes, Detection of single nucleotide polymorphisms associated with heavy metal toxicity or metabolism. The applications and products provided by the invention are of great value in the identification of susceptible groups to heavy metal poisoning, thereby reasonably preventing heavy metal poisoning.

The invention belongs to the field of biotechnology research, and discloses SNP (Single Nucleotide Polymorphism) sites related to coronary heart disease and application thereof. The invention specifically relates to application of an IL5 gene rs2069812 site or an IL5 gene rs2057687 site in preparation of drugs for examining and screening coronary heart diseases, wherein the coronary heart diseases comprise myocardial infarction and angina pectoris; the invention further discloses application of a detection reagent for the rs2069812 site of the IL5 gene and / or the rs2057687 site of the IL5 gene in preparation of drugs for examining and screening the coronary heart disease; the invention further discloses application of allelotype significantly associated with coronary heart disease susceptibility in preparation of drugs for coronary heart disease examination and screening; and the invention further discloses application of low-risk allele of the coronary heart disease in preparation of drugs for examining and screening the coronary heart disease. According to the site, a new coronary heart disease detection site is found, different risk levels are found for different alleles, and a new scheme is provided for subsequent diagnosis and prevention of coronary heart disease.