Page 213 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2147
F Genome-wide meta-analysis of homocysteine
and methionine metabolism identifies five one carbo
metabolism loci and an association of
ALDH1L
1
with
ischemic stroke.
S. R. Williams, Q. Yang, F. Chen, X. Liu,
K. L. Keene, P. Jacques, W. M. Chen, G. Weinstein, F. C.
Hsu, A. Beiser, L. Wang, E. Bookman, K. F. Doheny, P.
A. Wolf, M. Zilka, J. Selhub, S. Nelson, B. B. Worrall, S.
Seshadri, M. M. Sale.
2148
W Analysis of
vWA
and
TPOX
loci reveals a highly
associated relationship with thrombosis disease in
Mexican Mestizo population.
R. Camacho, A. Majluf, G.
Noris, C. Santana, M. A. Meraz, J. Hernández, R. Gómez.
2149
T
GALNT2
,
a HDL cholesterol and triglyceride
candidate gene, regulates lipoprotein metabolism
in vivo.
S. Khetarpal, A. Edmondson, A. Raghavan, S.
Kathiresan, D. Rader.
2150
F Disease-relevant pathways modulate a cis-
regulatory element at the
TCF21
coronary heart
disease locus.
C. Miller, D. Anderson, R. Kundu, A.
Raiesdana, S. Nürnberg, R. Diaz, N. Leeper, E. Schadt,
C. Hsiung, T. Assimes, T. Quertermous.
2151
W A functional polymorphism that affects
the
APOA5
gene expression determines plasma
triglyceride levels conferring coronary atherosclerosis
risk in Han Chinese population.
W. Shou, F. Xie, Y. Wang,
B. Wang, Z. Wang, J. Shi, W. Huang.
2152
T Use of allele-specific AIRE for identification
of functional variants at cardiometabolic loci.
A. J. P.
Smith, J. Palmen, E. Romeo, F. Drenos, P. Howard, A. D.
Hingorani, P. J. Talmud, S. E. Humphries.
2153
F Identification and characterization of patients
with autosomal dominant hypercholesterolemia
caused by gain-of-function mutations in proprotein
convertase subtilisin/kexin type 9 and comparison
with patients with familial hypercholesterolemia and
familial defective apolipoprotein B.
G. D. Swergold, S.
W. Fouchier, B. Sjouke, J. Mendoza, S. Mellis, S. Hamon,
J. C. Defesche, on behalf of PCSK9 Natural History
Study Group.
2154
W
GATA4
is implicated in the pathogenesis
of neonatal and childhood-onset diabetes.
E. De
Franco, C. Shaw-Smith, H. Lango Allen, S. Flanagan,
M. Borowiec, W. Mlynarski, M. Batlle, J. Ferrer, A.
Hattersley, S. Ellard.
2155
T
SMAD3
haploinsufficiency has a causative ole
in development of TAAD.
L. Gong, X. Duan, P. Yang,
X. F. Wang, O. A. Moffitt, D. M. Milewicz.
2156
F
Tnfaip8
is involved in host response to
Staphylococcus aureus
infection in mice and humans.
Q. Yan, S. H. Ahn, B. K. Sharma-Kuinkel, C. L. Nelson,
W. K. Scott, A. S. Allen, T. H. Rude, V. G. Fowler, Jr.
2157
W Association of eNOS 4 a/b polymorphism in
Mexican patients with coronary artery disease.
M.
P. Gallegos, Jr., R. P. Mariaud, L. E. Figuera, . M. Puebla,
G. M. Zúñiga.
2134
T Advancing genomic research on congenital
cardiac malformations in Africa.
P. Kruszka, M. Muenke, B.
Solomon, P. Lwabi, L. Harris, A. Beaton, C. Sable, B. Lanpher.
2135
F Advantages of next-generation sequencing in
the diagnosis of diseases associated with sudden
cardiac death.
D. Cantalapiedra, A. Romera, L. Pérez-
Cabornero, V. Felipe, D. Valero, G. Hernández, C. Buades,
A. Arilla, C. Rodríguez, C. Collado, V. Fernández-Pedrosa,
O. Rodríguez, J. Durbán, J. C. Triviño, S. Zúñiga, A.
Ballester, R. Miñambres, M. Gil, A. Forteza-Gil, M.
Martínez-Atienza, M. F. Márquez-Murillo, S. Santillán.
2136
W Dilated cardiomyopathy: An updated gene
database.
S. J. Carlus, K. M. Al Harbi.
2137
T Clinical consequences of CNVs detection in
congenital heart disease.
L. Kulikowski, E. Zanardo,
F. Piazzon, R. Dutra, A. Dias, M. Montenegro, G. Novo-
Filho, M. Basso, T. Costa, A. Nascimento, M. Grassi, M.
Carneiro-Sampaio, C. Kim.
2138
F Sequence variants in the mitochondrial D-loop
region are associated with ventricular arrhythmias
and appropriate ICD-therapy.
H. Tao, S. Rosenberg,
J. Wingrove.
2139
W Relative contributions of gene expression,
genetics, and clinical factors for diagnosis of
obstructive coronary artery disease.
J. Wingrove,
A. Johnson, H. Tao, S. Rosenberg.
2140
T Functional assessment of potential splice site
variants in arrhythmogenic right ventricular dysplasia/
cardiomyopathy.
D. Dooijes, J. A. Groeneweg, A. S.
Ummels, M. J. Mulder, H. Bikker, J. J. van der Smagt,
J. Post, J. F. van der Heijden, A. C. Houweling, J. D. H.
Jongbloed, A. A. M. Wilde, J. P. van Tintelen, R. N. Hauer.
2141
F Functional analysis of collagen VI variants and
their contribution to atrioventricular septal defect in
Down syndrome.
C. Ackerman, P. Holden, J. Fitzgerald,
C. Maslen.
2142
W Epigenomic regulation in the promoter of miR-
210
gene affects HIFa1 binding and vascular diseases.
S. H. Juo, K. C. Chen, Y. S. Wang, Y. C. Liao.
2143
T Distribution of hepatic lipase C-514T and
G-250A polymorphisms and their association with
plasma lipid profile in young Jo danians.
O. Khabour,
M. Alomari, K. Alzoubi, M. Gharaibeh, F. Alhashimi.
2144
F Novel mutation in
PRKAG2
gene highlights
the allosteric site of AMPK.
C. Phornphutkul, A. Gray,
K. Rotondo, J. Padbury, Y. Tseng, D. G. Hardie.
2145
W Systematic cell-based functional screening
for novel cardiovascular risk genes.
H. Runz, C.
Schuberth, P. Blattmann, G. Domschke, A. Thormaehlen,
S. Kathiresan, R. Pepperkok.
2146
T Using genetic information to analyse and define
the complex aetiology of blood pressure.
K. H. Wade,
N. J. Timpson, G. Davey Smith.