Abstract

BackgroundIschemic stroke is a life-threatening condition due to obstructed blood supply of the brain. Elevation of plasma C-reactive protein, an important inflammatory marker, was known to associate with increased risk of ischemic stroke. Previous studies reported association between genetic variants of HNF1A and plasma level of C-reactive protein. The HNF1A gene encodes a hepatocyte transcription factor which might have regulatory effects on C-reactive protein synthesis in liver. Therefore, the C-reactive protein associated gene HNF1A seems to be a promising candidate gene for ischemic stroke.ResultsWe used HNF1A as a candidate gene of ischemic stroke and evaluated seven common variants of HNF1A for their contribution to ischemic stroke. The association analysis of HNF1A variants with ischemic stroke was performed in a Chinese population with 918 cases and 979 controls. For total ischemic stroke and large vessel disease subtype, none of variants exceeded significant threshold. For small vessel disease subtype of ischemic stroke, the G allele of rs7953249 showed nominal association (OR = 0.82, p = 0.04) after data adjustment for conventional risk factors. However, our preliminary results did not survived bonferroni correction for multiple comparisons.ConclusionsCommon genetic variants of HNF1A showed nominal association with small vessel disease subtype of ischemic stroke though not survived bonferroni correction for multiple comparisons. The association between HNF1A and ischemic stroke is limited by small effects of individual SNPs. Our study provided additional genetic evidences to understand the role of HNF1A gene and C-reactive protein underlying ischemic stroke.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-016-0313-3) contains supplementary material, which is available to authorized users.

Highlights

  • Ischemic stroke is a life-threatening condition due to obstructed blood supply of the brain

  • Some ischemic stroke cases could be attributed to mendelian disorders which are caused by mutation of a single gene [9]

  • As C-reactive protein (CRP) is mainly synthesized in liver by hepatocytes [19], the hepatocyte nuclear factor 1 homeobox A (HNF1A) gene might be an important regulator of CRP and associate with ischemic stroke through its regulatory effects on CRP

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Summary

Introduction

Ischemic stroke is a life-threatening condition due to obstructed blood supply of the brain. Elevation of plasma C-reactive protein, an important inflammatory marker, was known to associate with increased risk of ischemic stroke. The C-reactive protein associated gene HNF1A seems to be a promising candidate gene for ischemic stroke. In China, more than 60 % stroke patients were ischemic characterized by obstructed blood supply of the brain [3, 4]. Some ischemic stroke cases could be attributed to mendelian disorders which are caused by mutation of a single gene [9]. Atherosclerosis has been known as a common cause of ischemic stroke [11].

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