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@ARTICLE{Cheng:179421,
      author       = {T. D. Cheng and M. N. Ilozumba and Y. Balavarca$^*$ and M.
                      L. Neuhouser and J. W. Miller and S. A. A. Beresford and Y.
                      Zheng and X. Song and D. J. Duggan and A. T. Toriola and L.
                      B. Bailey and R. Green and M. A. Caudill and C. M. Ulrich},
      title        = {{A}ssociations between {G}enetic {V}ariants and {B}lood
                      {B}iomarkers of {O}ne-{C}arbon {M}etabolism in
                      {P}ostmenopausal {W}omen from the {W}omen's {H}ealth
                      {I}nitiative {O}bservational {S}tudy.},
      journal      = {The journal of nutrition},
      volume       = {152},
      number       = {4},
      issn         = {0022-3166},
      address      = {Bethesda, Md.},
      publisher    = {Oxford University Press},
      reportid     = {DKFZ-2022-00663},
      pages        = {1099 - 1106},
      year         = {2022},
      abstract     = {Genetic variation in one-carbon metabolism may affect
                      nutrient concentrations and biological functions. However,
                      data on genetic variants associated with blood biomarkers of
                      one-carbon metabolism in US postmenopausal women are
                      limited, and whether these associations were affected by the
                      nationwide folic acid (FA) fortification program is
                      unclear.We investigated associations between genetic
                      variants and biomarkers of one-carbon metabolism using data
                      from the Women's Health Initiative Observational Study.In
                      1573 non-Hispanic White (NHW) and 282 Black/African
                      American, American Indian/Alaska Native, Asian/Pacific
                      Islander, and Hispanic/Latino women aged 50-79 y, 288
                      nonsynonymous and tagging single-nucleotide variants (SNVs)
                      were genotyped. RBC folate, plasma folate,
                      pyridoxal-5'-phosphate (PLP), vitamin B-12, homocysteine,
                      and cysteine concentrations were determined in 12-h fasting
                      blood. Multivariable linear regression tested associations
                      per variant allele and for an aggregated genetic risk score.
                      Effect modifications before, during, and after nationwide FA
                      fortification were examined.After correction for multiple
                      comparisons, among NHW women, 5,10-methylenetetrahydrofolate
                      reductase (MTHFR) rs1801133 (677C→T) variant T was
                      associated with lower plasma folate $(-13.0\%;$ $95\%$ CI:
                      $-17.3\%,$ $-8.6\%)$ and higher plasma homocysteine
                      $(3.5\%;$ $95\%$ CI: $1.7\%,$ $5.3\%)$ concentrations. Other
                      associations for nonsynonymous SNVs included DNMT3A
                      rs11695471 (T→A) with plasma PLP; EHMT2 rs535586 (G→A),
                      TCN2 rs1131603 (L349S A→G), and TCN2 rs35838082 (R188W
                      G→A) with plasma vitamin B-12; CBS rs2851391 (G→A) with
                      plasma homocysteine; and MTHFD1 rs2236224 (G→A) and
                      rs2236225 (R653Q G→A) with plasma cysteine. The influence
                      of FA fortification on the associations was limited. Highest
                      compared with lowest quartiles of aggregated genetic risk
                      scores from SNVs in MTHFR and MTRR were associated with
                      $14.8\%$ to $18.9\%$ lower RBC folate concentrations.
                      Gene-biomarker associations were similar in women of other
                      races/ethnicities.Our findings on genetic variants
                      associated with several one-carbon metabolism biomarkers may
                      help elucidate mechanisms of maintaining B vitamin status in
                      postmenopausal women.},
      keywords     = {Aged / Biomarkers / Carbon: metabolism / Female / Folic
                      Acid / Genotype / Histocompatibility Antigens /
                      Histone-Lysine N-Methyltransferase: genetics / Homocysteine
                      / Humans / Methylenetetrahydrofolate Reductase (NADPH2):
                      genetics / Methylenetetrahydrofolate Reductase (NADPH2):
                      metabolism / Middle Aged / Postmenopause: genetics / Women's
                      Health / MTHFR (Other) / folate (Other) / one-carbon
                      metabolism (Other) / postmenopausal women (Other) /
                      single-nucleotide variants (Other) / Biomarkers (NLM
                      Chemicals) / Histocompatibility Antigens (NLM Chemicals) /
                      Homocysteine (NLM Chemicals) / Carbon (NLM Chemicals) /
                      Folic Acid (NLM Chemicals) / Methylenetetrahydrofolate
                      Reductase (NADPH2) (NLM Chemicals) / EHMT2 protein, human
                      (NLM Chemicals) / Histone-Lysine N-Methyltransferase (NLM
                      Chemicals)},
      cin          = {C120},
      ddc          = {610},
      cid          = {I:(DE-He78)C120-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34967850},
      pmc          = {pmc:PMC8971010},
      doi          = {10.1093/jn/nxab444},
      url          = {https://inrepo02.dkfz.de/record/179421},
}