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Interesting MTRR Variations

Discussion in 'Genetic Testing and SNPs' started by Valentijn, Aug 2, 2013.

  1. Valentijn

    Valentijn Activity Level: 3

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    Amersfoort, Netherlands
    Here's a list of 23andMe SNPs which have research showing some malfunction, except for L333V which is rare as GG but has no research associated with it. Missense mutations are underlined, bolded, and orange.

    I'm listing the risk of A664A backwards of what Yasko does - this study (table 4), shows that it's looking at risk associated with the minor allele (A). Because the hazard ratio is less than 1, that means that A is protective, not causative.

    rsID.........NAME....RISK...ETC
    rs1801394....A66G....G
    rs3776467....G827A...G
    rs1532268....S175L...TT
    rs7703033....G1515A..A
    rs10064631...L333V...GG?..rare
    rs162036.....K350R...G
    rs2287780....R415C...T
    rs137853062..S454L...T....i5003808
    rs162049.....A95G....G
    rs10380......H595Y...T
    rs1802059....A664A...GG...A is protective
    rs9332.......G541A...A
  2. Little Bluestem

    Little Bluestem Senescent on the Illinois prairie, USA

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    Where is your summary of what this gene does? Some of us need that. :sluggish:
  3. Valentijn

    Valentijn Activity Level: 3

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    MTRR is the abbreviation for a gene called "5-methyltetrahydrofolate-homocysteine methyltransferase reductase" or "methionine synthase reductase"(MSR), and the enzyme which it creates. Basically after another enzyme, methionine synthase (MTR), loses its B12 and stops functioning, MTRR remethylates the MTR so that MTR can get back to work.

    Problems with MTRR can result in elevated homocysteine and low methionine. B12 supplementation is probably helpful.

    PS - Sorry for the delay, it took me all night to type out the full name of MTRR :lol:
    Radio and Little Bluestem like this.

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