blood type is a risk factor for blood clots

ADAMTS10 encodes a extracellular matrix metaloprotease which plays a role in the maturation of microfibril arrays which may contribute to structures in the carpal tunnel of the wrist driving risk of carpal tunnel syndrome, the most common plexus disorder

ADAMTS17 encodes a extracellular matrix metaloprotease. By analogy with ADAMTS10, ADAMTS17 may also play a role in the maturation of microfibril arrays which may contribute to structures in the carpal tunnel of the wrist driving risk of carpal tunnel syndrome, the most common plexus disorder

alcohol metabolism

encodes alcohol dehydrogenase, regulating clearance rate for alcohol

response to caffeine

regulation of caffeine metabolism

regulation of caffeine metabolism

ALDH1L1 encodes an enzyme involved in the folate cycle

APOE drives LDL-cholesterol levels, perhaps leading to a dietary choice to switch from butter to margarine

APOE involved in lipoprotein regulation

AR encodes the androgen receptor, important for regulation of hair follicles

ARSA encodes the enzyme arylsulfatase A

Skin changes due to chronic exposure to nonionizing radiation

bone morphogenic protein, growth factor influencing bone growth

bone morphogenic protein, involved in ossification

bone morphogenic protein, growth factor influencing bone growth

BNC2 encodes a transcription factor involved in skin pigmentation

locus associated with increased risk of heart disease

locus associated with increased risk of heart disease

CHRM3 encodes the cholinergic receptor muscarinic 3 with highest expression in the esophagus and the gastroesophageal junction and is responsible for gastric acid secretion

carbohydrate sulfotransferase acting on chondroitin

a kidney-specific protein inivolved in calcium reabsorption

collagen gene, involved in ossification

collagen galactosyltransferase

metabolite is a product of the encoded enzyme

CPS1 encodes an enzyme acting on the breakdown products of glycine catabolism

metabolite: multiple incl glycine, serine, homocysteine, urea

CPS1 encodes an enzyme acting on the breakdown products of glycine catabolism which indirectly impacts multiple metabolites

gene for the measured protein

immune checkpoint gene

caffeine metabolism

caffeine metabolism

caffeine metabolism

metabolites: 3-ureidoisobutyrate and 3-ureidoproprionate

DPYS encodes the enzyme which produces the two metabolites from dihydrouracil and dihydrothymine

DRD2 encodes a dopamine receptor which is the site of action for many antipsychotics

EBF1 contributes to hair growth through regulation of adipocyte maturation in the skin

EFEMP1 encodes fibulin-3, an extracellular matrix protein with a role in elastic fiber production which could directly contribute to the properties of the carpal ligament or other structures in the carpal tunnel

ENOSF1 encodes an enzyme that takes ribonate as a substrate

Factor XI, a protease in the clotting cascade

encodes thrombin, the final step in the clotting cascade, converting fibrinogen to fibrin

Factor V Leiden mutation

FADS1 and FADS2 are both in the direct pathway leading to arachidonic acid production

FADS1 and FADS2 are both in the direct pathway leading to arachidonic acid production

regulator of bone structure and function

AT3 is an atypical cadherin in brain, important for neurite outgrowth and establishment of polarity in the retina.

FGF21 encodes a growth factor that acts on the brain to increase reward associated with eating sugar

FGF21 encodes a growth factor that acts on the brain to increase reward associated with eating sugar

growth factor involved in thyroid gland development and thyroid hormone production

transcription factor important for thyroid endoderm development

transcription factor exclusively expressed in thyroid, involved in thyroid development

overall food intake

strongest BMI signal in the genome. Likely due to action of neighboring genes IRX3 and/or IRX5

bring up phlegm/sputum/mucus on most days

FUT2 encodes a fucosyltransferase, responsible for the glycosylation portion of mucus

GALNTL6 encodes polypeptide N-acetylgalactosaminyltransferase like 6 which is involved in O-glycosylation of mucins. Mucins, operating in the extra-cellular space, is increased in scar tissue

One nifty analysis in Enrichr is finding upstream transcription factors that are enriched for the implicated genes. The top 3 TFs are GATA1 (upstream of 75 GWAS genes), GATA2 (67 genes) and RUNX1 (91 genes). *All 3 of these TFs are themselves GWAS hits!*https://

One nifty analysis in Enrichr is finding upstream transcription factors that are enriched for the implicated genes. The top 3 TFs are GATA1 (upstream of 75 GWAS genes), GATA2 (67 genes) and RUNX1 (91 genes). *All 3 of these TFs are themselves GWAS hits!*https://

GC encodes the vitamin D binding protein

GCSH encodes a component of the glycine cleavage system

GDF5 encodes a growth factor involved in limb and joint development

GLDC encodes an enzyme involved glycine catabolism

Glutamate receptor involved in synaptic transmissions

GRM5 encodes a glutamate metabotropic receptor

GRM8 encodes a glutamate metabotropic receptor

GSC, Goosecoid Homeobox, an important regulator of pattern formation and Wnt signaling

HAND1 encodes a heart-specific transcription factor involved in organogenesis

HFE encodes the hemochromatosis gene

The HLA region encodes several proteins that play key roles in the immune system

HMGCR encodes an enzyme in the cholesterol biosynthetic pathway

cytokine involved in immune response

IRF4 encodes a transcription factor involved in skin pigmentation

LCT encodes lactase, necessary for break down of lactose

LDLR is involved in lipoprotein regulation

important function in bone marrow cells in the regenerative response of bone and cartilage after injulry

transcription factor involved in limb development

Skin changes due to chronic exposure to nonionizing radiation

melanin production switch

melanin production switch

pigmentation gene

MC1R regulates pigmentation which will contribute to risk of melanoma.

melanin production switch

MC4R is a well-known BMI gene. It influences feeding behavior.

enzyme involved in folate metabolism

bring up phlegm/sputum/mucus on most days

MUC5AC encodes one of the principal mucins in lung. This is the protein portion of mucus.

pigmentation gene

tyrosine transporter

OR10G3 probably encodes an olfactory receptor. Could it relate to enjoyment from smelling and eating fruit?

OR2A7 encodes an olfactory receptor that may respond to sweet smells

PAF is a lipid signaling molecule mediating platelet aggregation. PAF-AH deactivates PAF. PAFAH1B1 encodes the regulatory subunit of PAF-AH

PCSK9 regulates LDL via LDLR

PHDGH encodes an enzyme involved in de novo serine biosynthesis

PLN encodes plasmolamban, a key regulator of cardiac function

PNPLA3 encodes a triacylglycerol lipase with high expression in the liver

protein C receptor, involved in clotting response

PSCA, aka prostate stem cell antigen. Its exact function is not known but it is upregulated in prostate, bladder and stomach cancer. It has been seen in GWAS of gastric and bladder cancer:

PSPH encodes an enzyme involved in de novo serine biosynthesis

hormone regulating bone development

PTPN22 encodes a protein tyrosine phosphatase involved in immune response