Page 160 - ASHG 2013 Program Guide

POSTER SESSIONS
  147
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
815
F Analysis of DNA-protein interactions using
nuclear extracts around the -224 A/G single nucleotide
polymorphism in the neuropeptide receptor Y2
(
NPY2R
)
gene in predisposition to hypertension.
E.
Albino, A. Nuñez, J. Dutil.
816
W Experimental assessment of the function
of disease-associated genetic variants.
P. An, A.
McLenithan, S. Johnson, S. Limou, C. A. Winkler.
817
T Generation of
CLEC16A
inducible knockout
mouse as a novel model to study the pivotal role of NK
cells in the pathogenesis of type 1 diabetes.
M. Bakay,
M. Rankin, S. Yoeun, J. Kushner, H. Hakonarson.
818
F Genetic polymorphism and pathophysiology in
patients with vitiligo.
S. Chettiar, K. Mistry, P. Agarwal, A.
Patel, D. Jhala, D. Umarigar, R. Uppala.
819
W Allele-specific egulation of
DISC1
expression by
miR-135b-5p.
I. Hovatta, M. Rossi, H. Kilpinen, M. Muona,
I. Surakka, C. Ingle, W. Hennah, S. Ripatti.
820
T
CELSR1
mutations are associated with human
spina bifida
Y. Lei, H. Zhu, W. Yang, M. Ross, G. Shaw,
R. Finnell.
821
F Functional impact of polymorphisms in the
MMP3
and
TIMP2
gene promoters in human nonsyndromic
cleft lip/palate.
A. Letra, M. Zhao, R. M. Silva, A. R. Vieira,
J. T. Hecht.
822
W Indian Hedgehog (
IHH
)
and
LRBA
:
New genes for
Hirschsprung disease.
R. M. W. Hofstra, Y. Sribudiani, R.
Chauhan, M. Alves, C. Kockx, T. van Essen, R. Brouwer,
M. van den Hout, W. van Ijcken, I. T. Shepherd, A. S.
Brooks.
823
T Genes located in type 1 diabetes risk loci are
expressed in human islet and interact in functional
networks.
C. A. Brorsson, J. Stoerling, F. Pociot.
824
F Elucidating the genetics of type 2 diabetes by
integrative analysis of the genome, transcriptome
and epigenome of skeletal muscle and adipose
tissue samples from Finnish individuals spanning
the range of glucose tolerance.
J. R. Huyghe, S. C.
Parker, M. R. Erdos, H. Koistinen, P. S. Chines, H. M.
Stringham, L. J. Scott, L. Taylor, T. Blackwell, H. Jiang, C.
Ma, A. U. Jackson, R. Welch, N. Narisu, A. J. Swift, L. L.
Bonnycastle, M. L. Stitzel, L. Kinnunen, R. M. Watanabe,
T. Lakka, M. Laakso, J. Tuomilehto, F. S. Collins, M.
Boehnke.
825
W Altered expression of
ARAP1
,
at a type 2
diabetes GWAS locus, influences insulin sec etion
from pancreatic beta cells.
J. R. Kulzer, M. P. Fogarty, K.
L. Mohlke.
826
T The widely presumed type 2 diabetes causal
variant, rs7903146, within
TCF7L2
binds a specific
protein complex not seen with its closest non-causal
proxy.
Q. Xia, S. Deliard, C. X. Yuan, M. E. Johnson, S. F.
A. Grant.
803
F Bayesian conditional analysis of 180,000
individuals for migraine reveals local genetic
substructure and nine additional genes.
V. Anttila, H.
Huang, N. Eriksson, B. M. Neale, M. J. Daly, A. Palotie.
804
W Evidence for shared genetic loci between
body mass index and menarche timing among 5,357
Hispanic/Latina women in the population architecture
using genomics and epidemiology study.
L. Fernández-
Rhodes, C. Carty, C. Kooperberg, U. Peters, T. Matise,
J. L. Ambite, E. Demerath, J. Dreyfus, M. Gross, N.
Pankratz, E. Ramos, L. Hindorff, M. Daviglus, R. Kaplan, S.
Castañeda, G. Heiss, U. Lim, C. Haiman, L. Le Marchand,
K. E. North, N. Franceschini.
805
T A polymorphism of
Interleukine-13
is associated
with susceptibility to food allergy in the Japanese
population.
T. Hirota, M. Tamari, M. Kubo, S. Sato, M.
Ebisawa, T. Imai, M. Sakashita, S. Fujieda.
806
F No association between the neuropeptide Y gene
polymorphisms and smoking habit in Japanese.
M.
Isomura, C. Matsuda, T. Nabika.
807
W Use of eQTLs to unravel the etiology of
nonsyndromic oral clefting.
C. Malcher, C. Masotti, L.
A. Brito, C. F. S. Bassi, A. G. Morales, S. G. Ferreira, D. F.
Bueno, G. S. Kobayashi, N. Alonso, M. R. Passos-Bueno.
808
T ECM remodelling genes in intracranial aneurysm:
A south Indian perspective.
S. Sathyan, L. Koshy, H.
Easwer, S. Premkumar, J. P. Alapatt, M. Banerjee.
809
F Common variants associated with normal tension
glaucoma are also associated with glaucoma in
exfoliation syndrome.
D. Wang, B. Fan, H. Levkovitch-
Verbin, l. Pasquale, J. Haines, J. Wiggs.
810
W Alternatively spliced isoform expression
of
PTPN2
in rheumatoid arthritis.
M. Houtman, K.
Shchetynsky, L. Padyukov.
811
T Comparative analysis of eQTL structures in
chronic obstructive pulmonary disease and genotype-
tissue expression.
T. Huang, Q. Long, B. Zhang, S. Yoo,
J. Zhu, Z. Tu, GTEx Consortium.
812
F Phenotypic analysis of peptidylarginine
deiminase type 4 knockout mice.
A. Suzuki, Y. Kochi, H.
Shoda, K. Fujio, R. Yamada, K. Yamamoto.
813
W Defective
PGRN
gene expression in two patients
with frontotemporal dementia (FTLD) with potential
decreased mRNA stability due to exon 6 PGRN
deletion G.101349_101355delCTGCTGT associated
with familial FTLD.
E. Vitale, A. Iuliano, A. Polverino, G.
Milan, S. Pappata’, P. Sorrentino, A. Postiglione, V. Alesi,
A. Novelli, G. Sorrentino.
814
T Biomarkers and perinatal risk factors in autism
spectrum disorder.
H. Xu, H. Wang, Q. Dai, A.-Q. Zhou,
M.-R. Wu, X.-Y. Wang.