Aortic Aneurysm, Familial Abdominal, 3

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

MMP9, MMP14, SOD2, DAB2IP, ELN, AGT, AGTR1, ACE2, PTGS2, LOX, COL3A1, NCF1, CCL2, MMP2, ACE, MMP3, SERPINE1, CSF2, TIMP4, SELL, P2RY12, NOS2, EHF, LRP1, TGFBR2, LDLR, TGFBR1, FBN1, IL6R, TGFB3

MMP9, MMP14, SOD2, DAB2IP, ELN, AGT, AGTR1, ACE2, PTGS2, LOX, COL3A1, NCF1, CCL2, MMP2, ACE, MMP3, SERPINE1, CSF2, TIMP4, SELL, P2RY12, NOS2, EHF, LRP1, TGFBR2, LDLR, TGFBR1, FBN1, IL6R, TGFB3, ERG, MYH11, PCIF1, MYLK, SMAD3, SLC30A8, CDKN2B-AS1, TGFB2, ACTA2, NSMCE2, MAT2A, PRKG1, VPS51, CRP, ANKRD44, MTHFR, FOXE3, MFAP5, SPP1, TIMP1, IL6, PTPN22, TNF, ANGPT2, ANKRD44-IT1, IL10, APOE, IL1B, TIMP2, HIF1A, TIMP3, TNFRSF11B, PLG, IL1A, REN, MAPK8, IL17A, HLA-DRB1, SMUG1, HMOX1, CST3, TGFB1, PPARG, LEP, NOTCH1, VEGFA, LCN2, SIRT1, SORT1, THBD, ACTB, COX2, MMP12, MTCO2P12, MPO, TLR4, MIR145, CASP1, IFNG, PCSK9, AR, CD68, MAPK3, CXCL8, DPP4, ACSS2, DCN, GCG, LGALS3, NOX4, LPA, LRP5, MMP13, IL18, CPB2, MIR15A, CCR5, CDKN2A, PIK3CB, PIK3CD, PIK3CG, SERPINF2, RIPK1, MIR205, BGN, CXCL12, VCAM1, STAT3, TP53, ADAM17, TAGLN, ALOX5, AGER, THBS1, PIK3CA, HMGB1, AIM2, RBM45, CTSK, NOS3, CCN2, SERPINF1, NLRP3, PCYT1A, UQCRFS1, ADIPOQ, SELENOP, VDR, MMP10, IL4, IL1RN, KLF4, TXN, CXCR4, IFNA13, PLA2G15, ICAM1, CCN3, HP, CXCR2, PLA2G7, PGR, MAPK1, SERPINA1, RALBP1, MFAP4, CYSLTR1, FOXO4, PECAM1, PDGFA, PRKAA2, NHS, MPRIP, MMP7, LTBP4, RIPK3, JUN, ITGAX, MOK, MMP8, RENBP, FBLN5, PLAU, IFNA1, VCAN, FGF2, ACCS, MIR155, CTLA4, MIR33A, FCGR3B, FCGR3A, MIR30C2, MIR30A, F10, CAT, MIR29B2, CTSS, MIR29B1, ESR1, BAK1, ELAVL2, ELANE, EGR1, BAX, BCL2, EHMT1, ADM2, MIR21, DHFR, MIR195, CASP5, CYBB, CYP19A1, SMYD2, CSTB, CAD, GLP1R, HLA-A, GZMB, MAPK14, HLA-B, IL23A, DUOX1, PGR-AS1, CETP, FOXP3, ZGLP1, CCR2, HLA-DQA1, HLA-DRB3, APOA1, ACR, CERNA3, DUOX2, CDKN2B, PLA2G10, AAAS, MIR191, SPARCL1, MSC, SLC33A1, KAT2B, MIR183, RECK, IL18R1, MIR146A, MIR141, MIR147A, APLN, MBD4, MBD2, MIR126, MIR15B, KYNU, TNFSF14, TP63, CCL4L1, SERPINA13P, FCN3, ARHGEF2, ZNF148, FGF23, MIR455, TWIST1, HSP90B1, CRISP2, MIR545, TNFAIP6, POTEF, TMSB4X, C20orf181, MIR1260A, AAA1, LUCAT1, LINC00540, RAB4B-EGLN2, TP53COR1, TM7SF2, CXADRP1, TYROBP, NR4A3, UCP2, MIR221, KAT6A, MIR26A1, AIMP2, PXDN, ARMH1, ZBTB16, ZIC3, XBP1, VWF, VTN, VIM, MIR196B, FCMTE2, MIR363, ARSI, PYCARD, HCAR2, MYDGF, STARD7, MCF2L2, WDTC1, MMRN1, PCBP4, CARD8, ADAMTS5, ADAMTS8, CXCL16, GAS5, ZNF335, TSPYL2, SLC28A3, XYLT1, EBNA1BP2, IFIH1, UTS2, RETN, PAG1, PPARGC1A, ADCY10, MCTS1, MCAT, NOX1, POLDIP2, LRP10, RNF19A, TLR3, DDX58, SLC25A37, IL17D, PADI4, KAT6B, GNG2, DYM, IARS2, HEY2, ANGPTL2, ROBO3, HCST, KLHL35, SCO2, EGLN2, EGLN3, NCOR1, CCL4L2, PTGES, GDF15, SETD2, TIRAP, NTN1, GRAP2, TDRD10, OSCP1, FAM3D, PRSS55, ADCY10P1, TRIP13, IL27, NR1I3, HDAC5, HPSE, EBI3, CXCR6, POSTN, FSD1, DHX40, ZC3H12A, COL18A1, FSD1L, KAT8, AHSA1, SPZ1, ATG7, LANCL1, ABCC11, IL33, RABEPK, TRIM13, TSHZ1, ADAMTS1, SERPINA3, TLR2, EP300, EGFR, EFNA5, PHC1, E2F4, DNMT3A, DNMT1, DNASE1, DECR1, DDIT3, CYP2J2, CXADR, CX3CR1, CTSL, CTSH, CTSB, CSF1, CRK, CREBBP, CORT, COL5A2, COL1A2, CNN2, LTB4R, EIF4E, ESR2, TK1, ETS1, HDAC1, GYPE, GYPB, GYPA, GPX4, UTS2R, GAPDH, GABPA, GAA, MTOR, FOSB, FOS, FLT1, FLNA, FOXO1, FCGRT, FCGR2B, FCER1A, FBLN2, PTK2B, FABP4, F3, EZH2, CCR7, CCR6, CMA1, CGA, ARNTL, ARG1, ABCC6, AQP1, FASLG, APRT, APOH, ANXA2, ANGPT1, ALOX5AP, AKT1, AHCY, AGTR2, AEBP1, AP2A1, ADRB2, ADRA2B, PARP1, ADM, ADAM10, ADAM8, ACLY, ABO, ARR3, ARSA, ATM, CD14, CTSC, CD69, CD59, CD44, CD40LG, CD40, CD36, CD28, CD22, CD19, CD8A, AVP, CD1D, RUNX2, CAV1, CASR, CASP8, MYRF, C3, BTK, KLF5, BLVRA, HLA-DOA, HLA-G, HMGCR, SERPINA5, OPN1LW, PLAAT4, PVT1, PTX3, PTPRC, PTH, PTGER4, PTEN, PSMD7, PSMB8, PRTN3, PROC, PRKAR1A, PRKAB1, PRKAA1, PPIA, CTSA, PPARA, ABCA1, PLAT, PIN1, PF4, PEPD, S100A8, CCL4, CCL8, SRD5A1, TFAP2A, PRDX2, TAF1, ABCC8, STK11, STIM1, STAT5B, STAT5A, STAT1, SRY, SPG7, CCL11, SOX9, SOD1, SMARCA4, SLC16A1, SLC5A2, SHBG, SELP, CX3CL1, CCL20, CCL18, PDE3B, CNTN3, HNF4A, SERPINB2, KLK1, JUND, JUNB, ITGB2, ITGAM, ISG20, IL13, IL12B, IL9, CXCR1, IL2RA, IL2, IL1R1, IGKC, ICAM2, IARS1, HSPG2, HSPD1, HSPA5, HES1, HPN, HPGD, SLC29A2, RPSA, LTA4H, LTB, PPP1R12A, PRDX1, OA3, NRAS, NPPB, NOTCH3, NONO, NKTR, NFIB, NFE2L2, NF1, MYO9B, LTC4S, MUC5AC, MTRR, MTHFD1, MNDA, MMP1, NR3C2, MIF, MFAP1, MDK, MCAM, H3P28

Drugs

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For a phenotypic description and a discussion of genetic heterogeneity of familial abdominal aortic aneurysm, see AAA1 (100070).

Mapping

The identification of 2 single-nucleotide polymorphisms (SNPs) on chromosome 9p21 in adjacent linkage disequilibrium blocks associated with type 2 diabetes (rs10811661; see 125853) and coronary artery disease (CAD) (rs10757278; see CHDS8, 611139 and Helgadottir et al., 2007) raised the possibility that a region on 9p21 could predispose to both disorders through a shared biologic mechanism. Helgadottir et al. (2008) investigated this possibility by genotyping these SNPs in Icelandic individuals with 1 of 5 arterial diseases or type 2 diabetes, as well as in several additional case-control sets of European descent with the same phenotypes. They found that, in addition to CAD, the G allele of rs10757278 was associated with abdominal aortic aneurysm (OR = 1.31, P = 1.2 x 10(-12)) and intracranial aneurysm (see ANIB6, 611892), but not with type 2 diabetes. The estimated risk conferred by the G allele of rs10757278 for intracranial aneurysm and AAA was very similar across 3 intracranial aneurysm sample sets from Iceland, Finland, and the Netherlands. The effect of G allele of rs10757278 on intracranial aneurysm and AAA was comparable to that previously reported for CAD. After excluding known cases of CAD from the sample sets, the combined OR was 1.25 with a P value of 3.0 x 10(-6).

Thompson et al. (2009) analyzed the G allele of rs10757278 in 2 case-control series, from the United Kingdom and Western Australia, respectively, involving a total of 741 patients with AAA and 1,366 controls. The G allele was not significantly associated with AAA in either series alone, but reached statistical significance in combined analysis (OR = 1.38; P = 0.03). The SNP was not significantly associated with altered AAA growth rate in either cohort or in combined analysis.