Sample Report
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[email protected] | (858) 224-9879 Patient Information Provider Information Specimen Patient Name: Demo4 GB Provider: GBinsight Test ID: 862-1596485787-4 Date of Birth: 01/01/1980 Provider ID: 1558444216 Specimen Type: Buccal swab Age: 41 Clinical Team: GB Demo Report Date: 08/03/2020 Sex: female Ethnicity: Other NUTRITIONAL GENOMICS REPORT Nutritional Genomics Comprehensive Panel Summary The results of your GBinsight nutritional genomics analysis for 20 traits are summarized below. For detailed scientific information and dietary guidance, you must access your digital report using your personal HealthWatch 360 account. Nutritional Predisposition Risk Assessment Alcohol Intolerance/Alcohol Flush Reaction High risk Long-chain Omega-3/6 Deficiency Increased risk Lactose Intolerance Likely intolerant Sensitivity To A High-carbohydrate Diet, Hypertriglyceridemia Increased risk Functional Vitamin D Deficiency Increased risk Fat Intolerance Slightly increased risk Fat-soluble Vitamin Deficiency Slightly increased risk Sensitivity To A High Carbohydrate Diet, Non-alcoholic Fatty Liver Disease Slightly increased risk (NAFLD) Choline Deficiency Slightly increased risk Sensitivity To Caffeine Average Reduced Utilization Of Long-chain Fatty Acids For Fuel Average risk Gluten Intolerance Not likely at risk Fructose Intolerance Risk not identified Sensitivity To A High-fat Diet, Hypercholesterolemia Risk not identified Sensitivity To Sodium, Hypertension Risk not identified Folate Deficiency Risk not identified Retinol Deficiency Risk not identified Vitamin B12 Deficiency Risk not identified Sensitivity To Plant Sterols, Sitosterolemia Risk not identified Iron Overload Risk not identified GB HealthWatch, 6370 Lusk Blvd., Suite F205, San Diego, CA 92121 Page 1 / 8 Patient Name: Demo4 GB Test ID: 862-1596485787-4 Detailed infromation Detailed information on genetic traits, symptoms, related nutrients and dietary recommendations are available only in the digital report. Alcohol intolerance/Alcohol flush reaction Risk assessment: High risk. 2 variant(s) identified. Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification ADH1B SNV Heterozygous rs1229984 Alcohol to acetaldehyde metabolism, Association (c.143A>G(p.His48Arg)) increased missense ALDH2 SNV Heterozygous rs671 Facial flushing and hangover after Strong risk factor (c.1510G>A(p.Glu504Lys)) ClinVar ID: 18390 alcohol intake missense What is Alcohol intolerance/Alcohol flush reaction? Alcohol intolerance or flush reaction refers to the diminished ability to fully break down alcohol. People with alcohol intolerance who drink alcohol in excess can develop flushing or redness in the face. Over time, this inability to break down alcohol completely can increase risk of certain cancers, such as of the esophagus. Genetic variants that reduce our cells' ability to break down alcohol cause flushing. Alcohol flush reaction is caused by genetic variants in the ALDH2 gene that lead to the accumulation of acetaldehyde, a metabolic breakdown product of alcohol. Long-chain omega-3/6 deficiency Risk assessment: Increased risk. 1 variant(s) identified. Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification FADS1 SNV Homozygous rs174547 Very long-chain polyunsaturated fatty Risk factor (c.1248+52A>G) acids, deficiency intron_variant What is Long-chain omega-3/6 deficiency? Reduced blood levels of very long chain fatty acids (VLCFAs) can cause dry and brittle skin, hair and nails, disorientation, depression, food cravings and high triglyceride levels in the blood. Severe genetic forms cause VLCFA deficiency, which are a group of inborn errors of metabolism and are typically identified in infants and can result in serious complications. Modestly reduced VLCFA levels can be caused by inadequate dietary intake or genetic variants that limit conversion of VLCFAs from their biological precursors. Genetic variants within the FADS1-2-3 gene cluster cannot efficiently convert plant-based, long-chain fatty acids to the biologically-active VLCFAs such as eicosapentaenoic acid (EPA), docosahexaenoic acid (DHA) and arachidonic acid. As such, people with a risk variant within the FADS1-2-3 genes may need to consume more animal-based fat or take a fish oil supplement. Lactose intolerance Risk assessment: Likely intolerant. 1 variant(s) identified. Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification MCM6 SNV Homozygous rs4988235 Lactose intolerance Association (c.1917+326C=) intron_variant What is Lactose intolerance? Lactose intolerance refers to our body's reduced ability to break down lactose, the primary sugar found in dairy. People who are lactose intolerant but consume dairy may experience bloating, pain, feeling gassy and diarrhea. Lactose intolerance is common and an ancestral trait that occurs as our body shuts down the LCT gene that encodes for the lactase enzyme around the third year of life. Genetic variants in the adjacent gene, MCM6, that control the LCT gene confer lactose intolerance if the LCT gene is shut down and lactase cannot be made or lactose persistence when the LCT gene remains turned on. Studies have revealed that lactase persistence (LP), a phenotype unique to humans, is associated with various autosomal dominant alleles maintaining the expression of lactase beyond infancy. These genetic changes emerged relatively recently when some populations transitioned from nomadic to agricultural lifestyles, when cattle domestication and milk/dairy foods became common. GB HealthWatch, 6370 Lusk Blvd., Suite F205, San Diego, CA 92121 Page 2 / 8 Patient Name: Demo4 GB Test ID: 862-1596485787-4 Sensitivity to a high-carbohydrate diet, hypertriglyceridemia Risk assessment: Increased risk. 1 variant(s) identified. Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification APOA5 SNV Homozygous rs2266788 Hypertriglyceridemia Risk factor (c.*158C=) ClinVar ID: 127141 3_prime_UTR What is Sensitivity to a high-carbohydrate diet, hypertriglyceridemia? Excess dietary carbohydrate intake, particularly from simple sugars and refined foods, will prompt our livers to produce triglycerides as a means of storing the excess energy. The newly produced triglycerides are packaged into very low-density lipoproteins (VLDL) to deliver triglycerides to adipose tissue for storage. Elevated triglycerides is a risk factor for low HDL-cholesterol levels, metabolic syndrome and type 2 diabetes. Functional vitamin D deficiency Risk assessment: Increased risk. 2 variant(s) identified. Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification GC SNV Homozygous rs7041 Osteoporosis, susceptibility to Risk factor (c.1296T=(p.Asp=)) missense VDR SNV Homozygous rs1544410 Osteoporosis Risk factor (c.1024+283G=) intron_variant What is Functional vitamin D deficiency? Vitamin D is a key regulator of calcium (and other minerals such as phosphate and magnesium) that are needed for formation of teeth and bones. Vitamin D is important for cell identity that antagonizes cancer cell development. Vitamin D binds to a specific receptor - the vitamin D receptor - causing the receptor to move to the nucleus where it binds to specific regions of DNA. In the absence of vitamin D or if the vitamin D receptor is absent or not functioning properly, bone and teeth will not get properly mineralized, which can cause brittle bones and cavities. Fat intolerance Risk assessment: Slightly increased risk. 1 variant(s) identified. Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification APOA5 SNV Homozygous rs2266788 Hypertriglyceridemia Risk factor (c.*158C=) ClinVar ID: 127141 3_prime_UTR What is Fat intolerance? Fat intolerance refers to the impairment of the breakdown and clearance of triglycerides from the blood for energy use or storage by the tissues, resulting in high blood triglyceride levels. Severely elevated blood triglycerides can lead to inflammation of the pancreas (pancreatitis) that can cause sharp pains in the abdominal area and skin lesions made up of fat deposits called xanthomas. Strict dietary fat restriction is required to lower triglyceride levels. This restriction makes one susceptible to fat-soluble vitamin (vitamins A, D, E and K) and essential fatty acid deficiencies. Genetic loss of lipoprotein lipase (LPL) or its associated proteins are the major genetic cause of fat intolerance. In its most serious case, genetic loss of both copies of LPL results in familial chylomicronemia syndrome (FCS), which is characterized by severe hypertriglyceridemia and an inability to metabolize dietary fat. Fat-soluble vitamin deficiency Risk assessment: Slightly increased risk. 1 variant(s) identified. GB HealthWatch, 6370 Lusk Blvd., Suite F205, San Diego, CA 92121 Page 3 / 8 Patient Name: Demo4 GB Test ID: 862-1596485787-4 Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification APOA5 SNV Homozygous rs2266788 Hypertriglyceridemia Risk factor (c.*158C=) ClinVar ID: 127141 3_prime_UTR What is Fat-soluble vitamin deficiency? Fat-soluble vitamin deficiencies (of vitamins A, D, E and/or K) can result from inadequate dietary intake (such as from an extremely low-fat diet) and/or genetic defects in genes involved in absorption or transport of fat-carrying lipoproteins. As fat-soluble molecules cannot freely travel through our blood, they must be packaged into particles known as lipoproteins. Following a meal, our gut makes a type of lipoprotein called chylomicrons that transport fats, cholesterol and fat-soluble vitamins through out blood to our cells. When needed,