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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-
Hodgkin's lymphoma 66 and prostate cancer 67 but increased risk for breast
cancer. 68 In terms of effects on physiology, NPAS2 394 Thr correlates with
lower and bioavailable testosterone, providing support for a role for NPAS2
in hormone-related cancers. 69 Another intronic SNP in NPAS2 has been
shown to be significantly associated with susceptibility to prostate cancer
as well. 23
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
extreme diurnal preference. 70 The C allele is more frequent in individuals
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
between this SNP and social adversity on drinking measures. 71 Consistently,
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
to prostate cancer. 23 One of these SNPs is also significantly associated with
autistic disorder, along with a couple additional intronic SNPs. 64
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. 69
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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