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2016 ; 21
(10
): 1434-40
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Linkage and association analysis of ADHD endophenotypes in extended and
multigenerational pedigrees from a genetic isolate
#MMPMID26598068
Mastronardi CA
; Pillai E
; Pineda DA
; Martinez AF
; Lopera F
; Velez JI
; Palacio JD
; Patel H
; Easteal S
; Acosta MT
; Castellanos FX
; Muenke M
; Arcos-Burgos M
Mol Psychiatry
2016[Oct]; 21
(10
): 1434-40
PMID26598068
show ga
Attention-deficit/hyperactivity disorder (ADHD) is a heritable, chronic,
neurodevelopmental disorder with serious long-term repercussions. Despite being
one of the most common cognitive disorders, the clinical diagnosis of ADHD is
based on subjective assessments of perceived behaviors. Endophenotypes
(neurobiological markers that cosegregate and are associated with an illness) are
thought to provide a more powerful and objective framework for revealing the
underlying neurobiology than syndromic psychiatric classification. Here, we
present the results of applying genetic linkage and association analyses to
neuropsychological endophenotypes using microsatellite and single nucleotide
polymorphisms. We found several new genetic regions linked and/or associated with
these endophenotypes, and others previously associated to ADHD, for example, loci
harbored in the LPHN3, FGF1, POLR2A, CHRNA4 and ANKFY1 genes. These findings,
when compared with those linked and/or associated to ADHD, suggest that these
endophenotypes lie on shared pathways. The genetic information provided by this
study offers a novel and complementary method of assessing the genetic causes
underpinning the susceptibility to behavioral conditions and may offer new
insights on the neurobiology of the disorder.
|Adolescent
[MESH]
|Adult
[MESH]
|Aged
[MESH]
|Aged, 80 and over
[MESH]
|Attention Deficit Disorder with Hyperactivity/*genetics
[MESH]
|Child
[MESH]
|Cognition Disorders/genetics
[MESH]
|Colombia
[MESH]
|Endophenotypes/*analysis
[MESH]
|Ethnicity/genetics
[MESH]
|Female
[MESH]
|Genetic Association Studies/methods
[MESH]
|Genetic Linkage/genetics
[MESH]
|Genetic Predisposition to Disease/genetics/psychology
[MESH]