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Posts Tagged ‘diabetes’

rs6741949

Posted in DPP4, Uncategorized, tagged , , on November 15, 2012| Leave a Comment »

Yesterday was World Diabetes Day.

I almost forgot … which may have something to do with rs6741949.

From the original article:

“… rs6741949 in a DPP4 intron on chromosome 2q24, where the G allele was associated with smaller hippocampal volume (β=−52.8 mm3, p=2.9×10-7).”

The association with DPP4 sheds light on a fascinating connection between diabetes and hippocampal (memory) function.

“Further, DPP4 is an intrinsic membrane glycoprotein and a widely expressed serine exopeptidase. It is also an adipokine over-expressed in visceral adipose tissue of obese persons and those with diabetes, conditions associated with smaller hippocampal volume. A novel class of antidiabetic medications (sitagliptin, and related incretin compounds) inhibits DPP4 to improve insulin sensitivity and glucose tolerance through increased levels of glucagon like proteins-1 and 2 (GLP-1, -2). Interestingly, endogenous incretin GLP-1 is also heavily expressed in some hippocampal neurons and has neuroprotective properties.”

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note: 23andMe does not cover rs6741949, but they do cover 2 flanking SNPs that are in pretty good linkage disequilibrium with rs6741949 … so, um, I’m trying to figure out how I might impute/infer my genotype here … hmmm.

rs3788979 (bp162900889) CC D’=0.81 strand + forward
rs6741949 (bp162910223) A?G?              strand + forward
rs4664446 (bp162910403) AG D’=0.86 strand + forward

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rs11208305, rs718712

Posted in PAX6, PLCB1, ROR1, Uncategorized, tagged , , , , on September 28, 2012| Leave a Comment »

If you can’t sleep it’s because you’re awake in someone else’s dream.

That’s nice to know.  I’m currently being stalked by a DNA binding protein named  PAX6 that has an affinity for the H3K4me1 DNA element – which resides next to the polymorphic sites rs11208305 (chromosome 1p31) and rs718712 (chromosome 20p12) – who, themselves, are involved in the regulation of the expression of the ROR1 and PLCB1 genes, respectively.  Yeah, Freddy is sneaky like that.

These 2 SNPs were the most highly associated low-hanging fruits of a large genome association study of insomnia.  Interestingly, PAX6 is expressed both in the brain and in the pancreas (insomniacs often have high insulin levels at night).  The authors thus explored the notion that the expression of ROR1 and PLCB1 might be regulated by PAX6 both in the brain (where it can influence neural and circadian functions) AND in also the pancreas (where it can influence insulin secretion).

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Caveat:  The authors report a minor allele frequency of 0.03353 for the “C” allele at rs11208305.  Such rare alleles can vary in frequency dramatically across populations and lead to false positive results in case-control analyses.

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