Dataset Information

Epistasis analysis for estrogen metabolic and signaling pathway genes on young ischemic stroke patients.

ABSTRACT:

Background

Endogenous estrogens play an important role in the overall cardiocirculatory system. However, there are no studies exploring the hormone metabolism and signaling pathway genes together on ischemic stroke, including sulfotransferase family 1E (SULT1E1), catechol-O-methyl-transferase (COMT), and estrogen receptor ? (ESR1).

Methods

A case-control study was conducted on 305 young ischemic stroke subjects aged ResultsCOMT Val158Met polymorphism showed a significant association with susceptibility of young ischemic stroke among females. There was a two-way interaction between SULT1E1 -64G/A and COMT Val158Met in both MDR and CART analysis. The logistic regression model also showed there was a significant interaction effect between SULT1E1 -64G/A and COMT Val158Met on ischemic stroke of the young (P for interaction = 0.0171). We further found that lower estradiol level could increase the risk of young ischemic stroke for those who carry either SULT1E1 or COMT risk genotypes, showing a significant interaction effect (P for interaction = 0.0174).

Conclusions

Our findings support that a significant epistasis effect exists among estrogen metabolic and signaling pathway genes and gene-environment interactions on young ischemic stroke subjects.

SUBMITTER: Hsieh YC

PROVIDER: S-EPMC3480403 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Publications

Epistasis analysis for estrogen metabolic and signaling pathway genes on young ischemic stroke patients.

Hsieh Yi-Chen YC Jeng Jiann-Shing JS Lin Huey-Juan HJ Hu Chaur-Jong CJ Yu Chia-Chen CC Lien Li-Ming LM Peng Giia-Sheun GS Chen Chin-I CI Tang Sung-Chun SC Chi Nai-Fang NF Tseng Hung-Pin HP Chern Chang-Ming CM Hsieh Fang-I FI Bai Chyi-Huey CH Chen Yi-Rhu YR Chiou Hung-Yi HY

PloS one 20121024 10

<h4>Background</h4>Endogenous estrogens play an important role in the overall cardiocirculatory system. However, there are no studies exploring the hormone metabolism and signaling pathway genes together on ischemic stroke, including sulfotransferase family 1E (SULT1E1), catechol-O-methyl-transferase (COMT), and estrogen receptor α (ESR1).<h4>Methods</h4>A case-control study was conducted on 305 young ischemic stroke subjects aged </= 50 years and 309 age-matched healthy controls. SULT1E1 -64G/A ...[more]

PMID: 23112845

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Project description:Backgrounds and Purpose- Although new methods for genetic analyses are rapidly evolving, there are currently knowledge gaps in how to detect Mendelian forms of stroke. Methods- We performed whole-exome sequencing in 22 probands, under 56 years at their first ischemic stroke episode, from multi-incident stroke families. With the use of a comprehensive stroke-gene panel, we searched for variants in stroke-related genes. The probands' clinical stroke subtype was related to clinical characteristics previously associated with pathogenic variants in these genes. Relatives were genotyped in 7 families to evaluate stroke-gene variants of unknown significance. In 2 larger families with embolic stroke of unknown source, whole-exome sequencing was performed in additional members to examine the possibility of identifying new stroke genes. Results- Six of 22 probands carried pathogenic or possibly pathogenic variants in genes reported to be associated with their stroke subtype. A known pathogenic variant in NOTCH3 and a possibly pathogenic variant in ACAD9 gene were identified. A novel JAK2:c.3188G>A (p.Arg1063His) mutation was seen in a proband with embolic stroke of undetermined source and prothrombotic status. However, penetrance in the family was incomplete. COL4A2:c.3368A>G (p.Glu1123Gly) was detected in 2 probands but did not cosegregate with the disease in their families. Whole-exome sequencing in multiple members of 2 pedigrees with embolic stroke of undetermined source revealed possibly pathogenic variants in genes not previously associated with stroke, GPR142:c.148C>G (p.Leu50Val), and PTPRN2:c.2416A>G (p.Ile806Val); LRRC1 c.808A>G (p.Ile270Val), SLC7A10c.1294dupG (p.Val432fs), IKBKB: c.1070C>T (p.Ala357Val), and OXGR1 c.392G>A (p.Arg131His), respectively. Conclusions- Screening with whole-exome sequencing using a comprehensive stroke-gene panel may identify rare monogenic forms of stroke, but careful evaluation of clinical characteristics and potential pathogenicity of novel variants remain important. In our study, the majority of individuals with familial aggregation of stroke lacked any identified genetic causes.

Dataset Information

Epistasis analysis for estrogen metabolic and signaling pathway genes on young ischemic stroke patients.

Background

Methods

Conclusions

Publications

Epistasis analysis for estrogen metabolic and signaling pathway genes on young ischemic stroke patients.

Similar Datasets

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