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A missense polymorphism in
NPAS2
, 394 Ala/Thr, is linked to risks of
human tumors.
NPAS2
394 Thr is associated with reduced risk for non-
lower and bioavailable testosterone, providing support for a role for NPAS2
shown to be significantly associated with susceptibility to prostate cancer
as well.
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5. PER1
PER1 may be involved in circadian timing in human. A silent poly-
morphism in
PER1
, 2434 T/C located in exon 18, is associated with
with extreme morning preference than in individuals with extreme evening
preference.
PER1 is believed to regulate alcohol consumption under psychosocial
stress. A SNP in the promoter region of
PER1
is associated with frequency
of heavy drinking in adolescents, and significant interaction is observed
this SNP is associated with alcohol dependence in adults as well. Molecular
analysis revealed that cortisol-induced transcriptional activation of
PER1
is
reduced in human cell lines carrying the risk allele of this SNP. Binding
affinity of the transcription factor SNAIL1 to
PER1
promoter containing
the risk allele is also reduced. Furthermore, m
Per1
mutant mice show
increased alcohol consumption relative to wild type in response to social
defeat, supporting a role for PER1 in regulating alcohol drinking induced
by psychosocial stress.
Two intronic variants of
PER1
significantly correlate with susceptibility
autistic disorder, along with a couple additional intronic SNPs.
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PER1
962
Ala/Pro variant is linked to serum levels of sex steroid and insulin-like
growth factor-binding protein 3, providing physiological support for a role
of PER1 in hormone-related cancer.
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6. PER2
PER2
is the first gene found to carry mutation that causes FASP. FASP
is formerly known as familial advanced sleep phase syndrome and currently
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