Listado unitario de SNPs

(1)

2010

EUGENOMIC

05/10/2010

(2)

2

Prohibida la reproducción total o parcial de este documento sin autorización expresa de Eugenomic S.L.

EUGENOMIC, ofrecer la determinación de unos 200 SNP de forma unitaria, es decir la posibilidad de personalizar para cada

problema en cada paciente los SNP adecuados “a la carta”.

(3)

3 Name

Polymorphism rs number OMIM

Function

ALPHA 1-ANTITRYPSIN AAT [PiM, PiS] rs17580 613490 Hereditary AT deficiency, Emphysema, COPD, Hepatitis

ALPHA 1-ANTITRYPSIN AAT [PiM, PiZ] rs28929474 613490

ADDUCIN 1 ADD1 [G460W] rs4961 102680 Hypertension, salt sensitivity

ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING

PROTEIN ALOX5AP

rs10507391&

rs4769874 603700 Myocardial infarction, ischemic stroke

ANDROGENE RECEPTOR AR (E213E] rs6152 313700 Baldness

ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1 ABC1A1 [R219K] rs2230806 600046

cholesterol efflux pump in the cellular lipid removal pathway, for example role in hypercholesterinemia

AMILORIDE-BINDING PROTEIN1 ABP1 [F332S] rs1049742 104610

Histamine intolerance

AMILORIDE-BINDING PROTEIN 1 ABP1 [H645D] rs1049793 104610 AMILORIDE-BINDING PROTEIN 1 ABP1 [T16M] rs10156191 104610

ANGIOTENSIN I-CONVERTING ENZYME ACE [I/D] rs4646994 106180

RAAS, Myocardial infarction, diabetic nephropathy, stroke hemorrhagic, stroke ischemic, stature as a quantative trait,severe acute respiratory syndrome, IgA nephropathy, progression to renal failure

ACTININ, ALPHA-3 ACTN3 ex15 [R577X] rs1815739 102574 Fast twitch versus slow twitch muscle fibers

ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE;

ADH2 ADH2 [R370C] rs2066702 103720

Ethanol metabolism

ALCOHOL DEHYDROGENASE 1B, BETA POLYPEPTIDE;

ADH2 ADH2 [R47H] rs1229984 103720

BALDNESS Chr20

rs1160312, rs913063,

rs2180439 ₆₁₂₄₂₁ Risk alopecia, recommended to do the analysis _{together with AR [E213E]}

BETA-1-ADRENERGIC RECEPTOR

ADR B1 [R389G];

[G1251C] rs1801253 109630

Lipid metabolism, Receptor for epinephrine, blood pressure,

BETA-2-ADRENERGIC RECEPTOR

ADR B2 [R16G]; [Q27E]

rs1042713,

rs1042714 109690 Lipid metabolism , Metabolic syndrom

BETA-3-ADRENERGIC RECEPTOR ADR B3 [W64R] rs4994 109691 Lipid metabolism, metabolic syndrom

ANGIOTENSIN I AGT [M235T] rs699 106150

Elevated risk CAD, CHD, better benefit of an ACE therapy depending on the existing genotype

(4)

4 Name

Polymorphism rs number OMIM

Function

ANGIOTENSIN RECEPTOR 1 AGTR1 [C907T] rs5182 106165 hypertension, MI

ANGIOTENSIN RECEPTOR 1 AGTR1 (A1166C) rs5186 106165 hypertension, MI

ANGIOTENSIN II RECEPTOR, TYPE 2 AGTR2 [ex3 - 3’UTR] rs5193 300034 RAAS, hypertension, elevated risk myocardial infarctus

ATG16 autophagy related 16-like 1 ATG[16L1] rs2241880 610767

Crohn's disease

DELTA-AMINOLEVULINATE DEHYDRATASE ALAD [K68N] rs1800435 125270 Metabolism heavy metals (for example mercury).

ALDOLASE B Aldo B [A149P]; rs1800546 612724

Hereditary fructose intolerance

ALDOLASE B Aldo B [A174P] rs76917243 612724

ALDOLASE B AldoB [N344K] rs78340951 612724

ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1 APM1 [G276T] rs1501299 605441 Adipositas, cardiovascular disease, type II diabetes

ADIPOCYTE-, C1q-, AND COLLAGEN

DOMAIN-CONTAINING; APM1 [G3G]; [T45G] rs2241766 605441

Variation of adiponectin concentration in blood, predisposition type II diabetes, adiposistas, cardiovascular diesease

AGE-RELATED MACULOPATHY SUCEPTIBILITY PROTEIN 2

ARMS2 [A69S] rs10490924

610149 AMD

APOLIPOPROTEIN A-I APOA1 (MspI) rs2893157 107680 Lipid metabolism (elevated HDL)

APOLIPOPROTEIN A-V APOA5 [T-1131C] rs662799 606368 Lipidmetabolism (elevated triglycerides)

APOLIPOPROTEIN B ApoB (codon 3500)

rs5742904,

rs12713559 107730 Lipidmetabolism (elevated LDL)

APOLIPOPROTEIN C-III APOCIII [C3238G]

rs2854116, rs2854117,

rs12721082 107720 Lipidmetabolism, (elevated triglycerides)

APOLIPOPROTEIN E ApoE (E2/E3/E4)

rs429358,

rs7412 107741

Lipidmetabolism (E4 = marker for Alzheimer disease, late onset, (elevated cholesterol, LDL, ApoB)

BACTERIA Aa: Actinobacillus

no point mutation

Most important bacterial markers for parodontosis

BACTERIA Pi: Prevotella

BACTERIA Pg: Porphyrromonas

BACTERIA Td: Treponoma

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5 Name

Polymorphism rs number OMIM

Function

B-CELL LYMPHOMA 6 BCL6 [Asp387Asp] rs1056932 109565

Non hereditary mamma carcinoma, best in combination with CYP11B2 and CYP1B1

BONE MORPHOGENETIC PROTEIN 2 BMP2 [S37A] rs2273073 112261 induces bone and cartilage formation, Osteoporosis

BRAIN DERIVED NEUROTROPHIC FACTOR BDNF [V66M] rs6265 113505 Amalgam heavy metal detox

CALCITONIN RECEPTOR

CALCR [Pro463Leu]

or [Pro447Leu] rs1801197 114131 Osteoporosis

CATALASE _{CAT ex4/int4 [I/D358,}

exon4] or [G5A,

intron4] 115500 Oxidative stress

CARNITINE PALMITOYLTRANSFERASE 1B CPT1B rs5770917 601987 Narcolepsy

CYSTATHIONINE-BETA-SYNTHASE CBS rs5742905 613381 Homocystein metabolism

CYCLIN D1 CCND1 [G870A] rs603965 168461

Regulation -> cell cycle; non hereditary mamma carcinoma

CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA CETP [I405V] rs5882 118470 Lipidmetabolism, special HDL

CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA

CETP taq 1

[intron A - G279A ] rs708272 118470 Lipidmetabolism, special HDL

COMPLEMENT FACTOR H CFH[Y402H] rs1061170 610698 AMD

CHROMOSOME 8 CHR8 rs7014346 611469 Risk colo rectal cancer

CHROMOSOME 9 CHR9 rs719725 Risk colo rectal cancer

CHROMOSOME 18 CHR18 rs1785062 Obesity and Diabethe typ2

CHROMOSOME 11 OPEN READING FRAME 92 FLJ rs3802842 612232 Risk colo rectal cancer

CHOLINERGIC RECEPTOR 2, MUSCARIN CHRM2

rs1824024 &

rs2061174 118493 alcohol dependence; major depressive syndrome

KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL

ONCOGENE HOMOLOG c-kit [D816V] 164920 leukemia

CANNABINOID RECEPTOR 1

CNR 1 [T453];

[G1422A] rs1049353 114610 Adipositas

CANNABINOID RECEPTOR 2 CNR 2 [L251] rs4649124 605051 Osteoporosis

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6 Name

Polymorphism rs number OMIM

Function

CATECHOL-O-METHYLTRANSFERASE COMT [V-158M] rs4680 116790

Estrogen metabolism, non hereditary mamma carcinoma

CHAPERONIN 10 CPN10 [G4852A] rs3792267 600141 Metabolic syndrome, type II diabetes

COPORPHYRINOGEN OXIDASE 4 CPOX-4 [N272H] rs1131857 612732 Heavy metal metabolism (mercury)

COPORPHYRINOGEN OXIDASE 5 CPOX-5 [E330E] rs1729995 612732 Heavy metal metabolism (mercury)

C-REACTIVE PROTEIN, PENTRAXIN-RELATED CRP [C-717T] rs2794521 123260 Inflammation, atherosclerosis, type II diabetes

CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4

CTL A 4 [A49G]

[Thr17Ala] rs231775 123890 predisposition type1 diabetes

CYTOCHROME b-245, ALPHA POLYPEPTIDE CYBA [Y72H] [C242T] rs4673 608508 Cerebral ischemia

CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1 CYP11B1 [Ala386Val] rs4541 610613 Non hereditary mamma carcinoma

CYTOCHROME P450, FAMILY 17, SUBFAMILY A,

POLYPEPTIDE 1 CYP17 rs743572 609300

Steroid metabolism, non hereditary mamma carcinoma

CYTOCHROME P450, FAMILY 19, SUBFAMILY A,

POLYPEPTIDE 1 CYP19A1 [3‘UTR T/C] rs10046 107910

Steroid metabolism, non hereditary mamma carcinoma

CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE

1 CYP1A1*2A rs2606345 108330 Phase I detoxification, Drug metabolism

CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2 CYP1A2*C rs2069514 124060 Phase I detoxification, Drug metabolism

CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2 CYP1A2*F rs762551 124060 Phase I detoxification, Drug metabolism

CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6 CYP2A6*2,*3,*4 rs1801272 122720 Phase I detoxification, Drug metabolism

CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1 CYP1B1*3 rs1056836 601771

Estrogen metabolism, HRT, non hereditary mamma carcinoma

CYTOCHROME P450, SUBFAMILY IIB, POLYPEPTIDE 6 CYP2B6*4 rs2279343 123930 Phase I detoxification, Drug metabolism

CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 8 CYP2C8*2,*3,*4

rs11572103 rs10509681, rs11572080,

rs1058930 601129 Drug metabolism

CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19 CYP2C19*2,*3

rs4986893,

rs4244285 124020 Phase I detoxification, Drug metabolism

CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9 CYP2C9*2,*3

rs1799583,

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7 Name

Polymorphism rs number OMIM

Function

CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 *3 cf thm 124030 Phase I detoxification ,Drug metabolism

CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6*4 rs3892097 124030 Phase I detoxification ,Drug metabolism

CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6*2x

no point

mutation 124030 Phase I detoxification, Drug metabolism, xenobiotics, ultraextensive metabolizer phenotype

CYTOCHROME P450, SUBFAMILY IIE CYP2E1*5A, *5B,*6 rs2031920 124040

Phase I detoxification , Drug metabolism, EtOH metabolism

CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4 CYP3A4*1B rs2740574 124010 Phase I detoxification ,Drug metabolism, xenobiotics

CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 5 CYP3A5*3C rs776746 605325

Phase I detoxification , Drug metabolism, xenobiotics

DIHYDROPYRIMIDINE DEHYDROGENASE DPD [R235W] rs1801266 612779 Pharmacogenetic

HLA DQ2 and HLA DQ8 DQ2 / DQ8

No point

mutation 146880 Celiac disease

DOPAMINE RECEPTOR D2 DRD2 [Taq I] rs1800497 608774 Different drug dependencies, symptoms of attention deficit

ELAC, E. COLI, HOMOLOG OF, 2 ELAC2 [A541T] rs34152967 605367 Prostate cancer hereditary, HPC2 included

EPIDERMAL GROWTH FACTOR RECEPTOR (erythroblastic leukemia viral (v-erb-b) oncogene

homolog, avian) EGFR [D994D] rs2293347 NSCLC patient, better Gefitinib response

EXCISION REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION GROUP2

ERCC2=XPD [K751Q] rs13181

126340 Skin cancer

NITRIC OXIDE SYNTHASE, ENDOTHELIAL

eNOS

[E298D exon 7];

[T-786C]; [T-808C] rs1799983 163729 Coronary heart disease (blood pressure)

MICROSOMAL EPOXIDE HYDROLASE _{EPHX exon3 [Y113H],} exon 4 [A15443G], exon8 [N357]

rs1051740, rs2234922,

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8 Name

Polymorphism rs number OMIM

Function

ESTROGEN RECEPTOR 2 ER [Pvu] and [Xba]

rs2234693,

rs9340799 133430 Estrogen metabolism, non hereditary mamma carcinoma, osteoporosis

ESTROGEN RECEPTOR 2 ER_TA-repeat

No point

mutation 601663 Estrogen metabolism, osteoporosis

FATTY ACID-BINDING PROTEIN 2; FABP2 [A54T] rs1799883 134640 Lipid metabolism, elevated triglycerides, type 2 diabetes

FACTOR II Factor II [G20210A] rs1799963 176930 coagulation, elevated risk for thrombosis

FACTOR V Factor V [G1691A] rs6025 612309 coagulation, elevated risk for thrombosis

FACTOR VII, Factor VII [R353Q] rs6046 227500 coagulation, reduced risk for CAD and for thrombosis

FACTOR XIII

Factor XIII

[VAL34LEU] 134570

coagulation, mutation is protective for venous thrombosis

Fc FRAGMENT OF IgE FCER1A

rs2427837 ,

rs2251746 147140 IgE level

FAT MASS AND OBESITY FTO rs9939609 610966 High BMI and common obesity

FIBRINOGEN FGB (G-455A) rs1800790 134830 Coagulation, risk thrombosis

FIBROBLAST GROWTH FACTOR RECEPTOR 2 FGFR2 rs2981582 176943 Breast cancer

FK506 binding protein 5 FKBP5 (IVS2 C>T) rs1360780 602623 Serotonine metabolism, pharmacogenomics SSRI

GHRELIN GHRL [L72M] rs696217 605353 Adipositas

GAP JUNCTION PROTEIN, ALPHA-4 (Connexin) GJA4 [P319S] rs1764391 121012 Risk atherosclerosis

GNAS COMPLEX LOCUS GNAS rs7121 139320 Prostate cancer treatment response

GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-3 GNB3 [C825T] rs5443 139130

Lipid metabolism, Hypertonia, coronary heart disease, adipositas

GLUTATHIONE PEROXIDASE GPX [P198L] rs1050450 138320 Oxidative stress

GLUTATHIONE S-TRANSFERASE, MU-1 GSTM1 No SNP 138350 PhaseII detoxification, xenobiotics

GLUTATHIONE S-TRANSFERASE, MU-3 GSTM3 rs7483 138390 Alzheimer disease

GLUTATHIONE S-TRANSFERASE, PI GSTP1 rs1695 134660 PhaseII detoxification, xenobiotics

GLUTATHIONE S-TRANSFERASE, THETA-1 GSTT1

No point

mutation 600436 PhaseII detoxification, xenobiotics

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9 Name

Polymorphism rs number OMIM

Function

HEMOCHROMATOSIS HFE [H63D] rs1799945 235200 Iron overload

HEMOCHROMATOSIS HFE [S65C] rs1800730 235200 Iron overload

HYDROXYTRYPTAMINE RECEPTOR 2A HTR2A (A-1439G) rs6311 182135 Depression, Serotonin metabolism

MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B HLA B27

no point

mutation 142830 spondylitis

3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE HMGCR [C-911A] rs3761740 142910 Cholesterol metabolism, protein is target of statines, a genotype is correlated to an elevated risk of CHD

HISTAMINE N-METHYLTRANSFERASE HNMT [C314T] atg rs1801105 605238 Histamine intolerance

PLATELET GLYCOPROTEIN IIIa HPA-GP3 T12548C rs988684 173470 Aggregation of thrombocytes

17-@BETA-HYDROXYSTEROID DEHYDROGENASE II; HSD17B2 [S312] rs8191245 109685 Non hereditary mamma carcinoma

HEAT-SHOCK 70-KD PROTEIN 1A HSPA1A

rs1043618, s1061581,

rs2227956 140550 Risk cardiovascular disease

HYPOTHETICAL PROTEIN LOC643714 TNRC9 rs3803662 611416 Breast cancer

INTERLEUKIN 1-ALPHA Il-1 A [T-889, exon1] rs1800587 147760 Inflammation, parodontosis

INTERLEUKIN 10 IL-10 [G-1082A] rs1800896 124092 Inflammation, parodontosis, Alzheimer disease

INTERLEUKIN 1-BETA; IL-1B [C3945T] rs1143634 147720 Inflammation, parodontosis

INTERLEUKIN 1-BETA IL-1B [C-511T] rs16944 147720 Inflammation, parodontosis

INTERLEUKIN 1 RECEPTOR ANTAGONIST IL1RN [T2018C] s419598 147679 Inflammation, parodontosis

INTERLEUKIN 4 IL-4 [C-33T]

rs2070874 147780

Inflammation, protective effect autoimmune thyroiditis, Chronic Inflammatory Arthropathies, predisposition asthma

INTERLEUKIN 4 RECEPTOR IL4r [Q551R] rs1801275 147781 Inflammation, Chronic Inflammatory Arthropathies

INTERLEUKIN 6 IL6 [G-174C] rs1800795 147620 Inflammation, osteoporosis

INTERLEUKIN 23 RECEPTOR IL-23R [R381Q] rs11209026 607562 Protective Crohn’s disease, good and bad spinal cord donors

INTERLEUKIN 28 IL28B rs12979860 607402 Response to treatment in HCV patient

(10)

10 Name

Polymorphism rs number OMIM

Function

INSULIN RECEPTOR SUBSTRATE 1 IRS-1 [G971R] rs1801278 147545

Insulin metabolism, insulin resitance, type II diabetes (it is recommended to do the test in combination with CTLA4 and PPARgamma)

JANUS KINASE 2; JAK2 [V617F] Not develop

Not

develop Leukemia; polycythaemia vera, idiopathic myelofibrosis

KINESIN FAMILY MEMBER 6 KIF6 [WT719R] rs20455 CHD and response to statine

KLOTHO KLOTHO [G-395A] rs1207568 604824 Osteoporosis, Alzheimer disease (early onset)

LACTASE PHLORIZINE HYDROLASE LCTA [C-13910T] rs4988235 603202 Lactose malabsorption

LEPTINE LEP(A-2548G) rs7799039 164160 Adipositas

LEPTIN RECEPTOR LEPR [Q223R] rs1137101 601007 Adipositas

LOW DENSITY LIPOPROTEIN RECEPTOR

LDL-rec. [Hinc2 (ex12) + Ava2(ex13)] rs17851178 =rs688, rs17242555 =rs5925 606945

Lipid metabolism, Reduced receptor activity for cholesterol

HEPATIC LIPASE LIPC [-514C/T] rs1800588 151670 ncreased HDL level

LIPOPROTEIN LIPASE

LPL [D9N] & [N291S] & [S474X]

rs1801177, rs268,

rs328 609708 Lipid metabolism, the first two SNP=> elevated risk for CAD, the third SNP => diminished risk for CAD

LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5

LRP5 [V667M] &[A1330V]

rs4988321,

rs3736228 603506 Risk vertebral fractures, reduced BMD

MOUSE DOUBLE MINUTE 2 HOMOLOG;

MDM2 Intron

[G309T] rs2279744 164785 Apoptosis, cell cycle

MULTIDRUG RESISTANCE 1 MDR1 [C3435T] rs1045642 171050 Drug resitance, chemotherapy

MATRIX METALLOPROTEINASE 3; MMP3(5A/6A) rs3025058 185250 Cardiovascular disease, hypertension

5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR [A1298C] rs1801131 607093 homocysteine remethylation to methionine.

5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR [C677T] rs1801133 607093 homocysteine remethylation to methionine.

MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN MTP [G-439T] 157147

Lipid metabolism, associated with elevated triglycerides

MICROTUBULE ASSOCIATED PROTEIN TAU MAPT rs1800547 157140 Parkinson disease

(11)

11 Name

Polymorphism rs number OMIM

Function

METHIONINE SYNTHASE REDUCTASE MTRR [A66G]; [M22I] rs1801394 602568

Folat metabolism, association with homocstein levels in plasma

MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA,

HOMOLOG OF, 7; SMAD / 18q21

rs12953717, rs4939827,

rs4464148 601366 Risk colo rectal cancer

N-ACETYLTRANSFERASE 1 NAT1*3 NAT1*4 NAT1*10 reference SNP rs8190861, rs15561 rs4986783, rs4986782 rs4987076 108345

Phase II detoxification, association with colon or bladder carcinoma N-ACETYLTRANSFERASE 2 _{NAT2*5A (C481T),} *6A (G590A), *7A/B (G857A) rs1799929, rs1799930,

rs1799931 ₆₁₂₁₈₂ Phase II detoxification, association with colon or _{bladder carcinoma} NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN

PROTEIN 2 NOD2 [Ex 8 2722 G/C] & NOD2 [Ex 4 2104 C/T] & NOD2 [ Ex 11 3020 insC] 2066844, rs2066845 no point

mutation 605956 Crohns disease

NATRIURETIC PEPTIDE PRECURSOR B; NPPB rs198389 rs198389 600295 Risk cardiovascular disease,

NATRIURETIC PEPTIDE PRECURSOR A NPPA rs1049872 108780 Risk cardiovascular disease,

NEUROPEPTIDE Y NPY [L7P] rs16139 162640 energy homeostasis, associated with elevated

OSTEOPROTEGERIN OPG [T 245 C] rs3134069 602643 Regulation of bone resorption, osteopr

TRANSFORMATION-RELATED PROTEIN 53

p53 exon4 [C429G]

P72R rs1042522 191170 Anti oncogene

PLASMINOGEN ACTIVATOR INHIBITOR 1 PAI [4G/5G] rs1799899 613329 elevated risk for thrombosis, increased risk for CAD

PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9 PCSK9[R46L] rs11591147 607786

Hypocholesterolemia, increased response to statin therapy

(12)

12 Name

Polymorphism rs number OMIM

Function

PROGESTERONE RECEPTOR PGR [331G/A] rs10895068 607311

Elevated risk ovarial cancer, endometriosis, endometrial cancer

PERILIPIN PLIN [1482G>A] rs891460 170290 Lipid metabolism. Adipositas, CVD

PERILIPIN PLIN [V373V] rs2304796 170290 Lipid metabolism. Adipositas, CVD

PARAOXONASE 1 PON1 [Q192 R] rs662 168820 atherosclerosis and heart disease

PARAOXONASE 1 PON1 [M55L] rs854560 168820 atherosclerosis and heart disease

PARAOXONASE 2 PON2 rs12026 602447 Diabete

PEROXISOME PROLIFERATOR-ACTIVATED

RECEPTOR-GAMMA PPAR gamma [P12A] Rs1801282 601487 Metabolic syndrome, type II diabetes

PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA

PPAR alpha

[IVS7-(G2498C)] rs4253778 170998

Metabolic syndrome, type II diabetes, glucose sensitivity

PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, SIGMA;

PTPRS _rs886936,

rs17130 ,

rs8100586 601576 Crohn’s disease

- RECEPTOR ACTIVATOR OF NF-KAPPA-B;

RANK(Intron6), RANK

Exon6 [A192V], rs12458117, rs9594782 603499 osteoporosis

- RECEPTOR ACTIVATOR OF NF-KAPPA-B LIGAND RANK L (Intron1) 602642 osteoporosis

5 SNPs

rs1447295 611100

Prostate Cancer (5 SNPs) published in NEJM

rs16901979 611100 rs6983267 611100 rs1859262 176807 rs4430796 176807

PLASMINOGEN ACTIVATOR INHIBITOR, TYPE 2 Serpine A3 [G-51T] rs18840082 Elevated risk for aneurysm

GLUTAMINYL-PEPTIDE CYCLOTRANSFERASE QPCT rs3770748 607065

Rsik Alzheimer disease, Tryptophan metabolism, relation to bone mineral density

RENIN REN [T5795G] rs5707 179820 Hypetension, cardiosvascular disease

SELECTIN E SELE [S149R] rs5361 131210 Susceptibility nephropathy

SELEPTIN P SELP [V640L] rs6133 173610 Susceptibility nephropathy

(13)

13 Name

Polymorphism rs number OMIM

Function

SEX HORMONE-BINDING GLOBULIN; SHBG [D356N] rs6259 182205 predisposition prostata cancer

SOLUTE CARRIER ORGANIC ANION TRANSPORTER

FAMILY, MEMBER 1B1 SLCO1B1[V174A] rs4149056 604843 Risk cardio mypathie

SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER

TRANSPORTER, SEROTONINE), MEMBER SLC6A4 (G/C-intron1) rs16965628 182138

Obsessive-compulsive disorder, serotine

metabolism

SUPEROXIDE DISMUTASE 1

SOD1 [A5V], SOD1

- EX4 [G94A] 147450 Oxidative stress

SUPEROXIDE DISMUTASE 2; SOD2 [A16V] rs1799725 147460 Oxidative stress

STEROID 5-ALPHA-REDUCTASE 2 _{SRD5a [R227Q],} [V89L],

[A49T]

rs9332964, rs523349,

rs9282858 607306 Risk prostata carcinoma

STEROL REGULATORY ELEMENT-BINDING

TRANSCRIPTION FACTOR 2 SREBP2 [G1748C] rs4822063 600481

Cholesterol metabolism, predisposition hypercholesterolemia

SULFOTRANSFERASE FAMILY 1A, PHENOL-PREFERRING,

MEMBER 1 SULT1a1*2 rs3760091 171150 Detoxificationof catechol-estrogenes, risk non hereditary mamma carcinoma

SYNUCLEIN ALPHA SNCA rs356219 163890 Parkinson disease

TRANSFORMING GROWTH FACTOR-BETA RECEPTOR,

TYPE I TGFBR1 rs334348 190181 Risk colorectal cancer

TOLL-LIKE RECEPTOR 4 TLR4 (Thr399Ile) rs4986791 603030

Diabetic neuropathy, Heart disease, premature birth, bacterial vaginosis, septic shock

TRANSCRIPTION FACTOR 7-LIKE 2; TCF 4, = TCF7L2 rs12255372 602272 Type 2 diabetes

TRANSFORMING GROWTH FACTOR, BETA

TGF beta

[exon1, codon10]

rs1982073

(14)

14 Name

Polymorphism rs number OMIM

Function

TUMOR NECROSIS FACTOR alpha TNF alpha [G-238A] rs361525 191160

Inflammation, various autoimmune disease, atopy and asthma, response to pathogens like hepatitits B and C virus and chlamydia trachomatis

TUMOR NECROSIS FACTOR alpha TNF alpha [G-308A] rs1800629 191160

Inflammation, various autoimmune disease, atopy and asthma, response to pathogens like hepatitits B and C virus and chlamydia trachomatis

TRYPTOPHAN HYDROXYLASE 1; TPH [A218C],TPH [A779C]intron 7, TPH1 intron8 (A/G) rs1800532, rs7933505 191060

Psychiatric genetics, suicidial behavior, other psychiatric disorders

TRYPTOPHAN HYDROXYLASE 2 TPH2 rs45706025 607478 Psychiatric genetics, maniac depression

THIOPURINE S-METHYLTRANSFERASE TPMT *2, *3B, *3C rs1800462, rs1800460,

rs1142395 ₁₈₇₆₈₀ _{Pharmacogenetics, anticancer-drugs} UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE

A1

UGT1A1 [TA6/TA7] rs34815109

191740

Phase II glucuronidation,

VITAMIN D RECEPTOR VDR [BsmI] rs154410 601769 Osteoporosis

VITAMIN D RECEPTOR VDR [Taq I] rs731236 601769 Osteoporosis

VITAMIN D RECEPTOR VDR Fok1 [M1T] rs1072581 601769 Osteoporosis

VASCULAR ENDOTHELIAL GROWTH FACTOR VEGF [C-2578A] rs699947 192240 Increase of permeability of blood vessels