Lancet Sub-Journal: The most common "cavity obstruction" in physical examination is actually a "genetic disease"!

Lacunar infarction (LIS) is a large category of cerebral infarction, mainly refers to non-cortical small infarcts (diameter 2-15mm) caused by the occlusion of a single perforating branch of a large cerebral artery.

 

As early as 1901 , Marie described for the first time a clinical syndrome related to multiple lacunae, which is characterized by sudden hemiplegia that can be well recovered, characteristic small gait, pseudobulbar palsy and even dementia.

As early as 1901 , Marie described for the first time a clinical syndrome related to multiple lacunae, which is characterized by sudden hemiplegia that can be well recovered, characteristic small gait, pseudobulbar palsy and even dementia.

However, with the introduction of CT and MRI, there are more and more voices against "lacunar state".

With the introduction of CT and MRI, there are more and more voices against "lacunar state".

Little is known about the genetic basis of lacunar infarction, so far only one locus has been identified on 16q24.

The researchers pooled and analyzed data from newly recruited MRI patients diagnosed with lacunar infarction and existing genome-wide association studies ( GWAS ).

GWAS

The case and control group were first stratified by race and performed two meta-analysis, followed by a multi-characteristic analysis of GWAS and a joint analysis with the study of white matter hyperplasia (a cause-related radiological feature) to discover additional genetic associations .

The meta-analysis included studies from Europe, the United States, and Australia, including 7,338 cases and 254,798 controls, of which 2,987 (matched with 29,540 controls) had lesions confirmed by MRI.

Five loci (ICA1L-WDR12-CARF-NBEAL1, ULK4, SPI1-SLC39A13-PSMC3-RAPSN, ZCCHC14, ZBTB14-EPB41L3) were found to be related to the occurrence of lacunar infarction.

Among the identified sites, two sites contain genes involved in unigenic stroke (COL4A2 and HTRA1).

TWAS determined the relationship between the expression of 6 genes (SCL25A44, ULK4, CARF, FAM117B, ICA1L, NBEAL1) and lacunar infarction.

TWAS determined the relationship between the expression of 6 genes (SCL25A44, ULK4, CARF, FAM117B, ICA1L, NBEAL1) and lacunar infarction.

Lacunar stroke has considerable heritable components, and the 12 loci that have been identified so far can represent future treatment goals.

references:

Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.

Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.


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