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Genes that Control Uric Acid Levels

Written by Puya Yazdi, MD | Last updated:
Medically reviewed by
SelfDecode Science Team | Written by Puya Yazdi, MD | Last updated:

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Note that each number in parentheses [1, 2, 3, etc.] is a clickable link to peer-reviewed scientific studies. A plus sign next to the number “[1+, 2+, etc...]” means that the information is found within the full scientific study rather than the abstract.

SLC2A9 Gene – The Absorptive Urate Transporter:

The SLC2A9 gene encodes the glucose transporter 9 protein (GLUT4). It transports fructose and aids in the reabsorption of filtered urate by proximal tubules in the kidney. Loss-of-function mutations in this gene can cause hereditary hypouricemia due to reduced urate absorption [1].

  1. RS10017674
  2. RS10018204
  3. RS1014290 – The “G” allele is associated with a lower age at onset of Parkinson’s disease [2]. Individuals with the TT genotype had higher blood uric acid levels after increasing their consumption of soft drinks [3]. The GG genotype is associated with significantly higher serum uric acid levels when compared with the TT/TG genotypes [4].
  4. RS1079128
  5. RS10805346
  6. RS11722228 – The “T” allele is linked to higher blood uric acid levels in females compared to males [5].
  7. RS12498150
  8. RS12498742 – Each copy of the minor “G” allele reduces the risk of gout [6].
  9. RS12498956
  10. RS13103879
  11. RS13129697 – The “C” allele is linked to lower blood urate levels in the Croatian population [7].
  12. RS13131257 – The “T” allele is associated with lower blood uric acid levels in Mexican Americans [8].
  13. RS13328050
  14. RS16868246
  15. RS16890979
  16. RS17185835
  17. RS17185870
  18. RS1850744
  19. RS2018643
  20. RS3733585 – The “G” allele is associated with cleft palate [9].
  21. RS3733591 – The “C” allele increases the risk of severe gout for some populations [10].
  22. RS3775948 – The “G” allele is associated with an increased risk of gout [11].
  23. RS4311316
  24. RS4312757
  25. RS4314284
  26. RS4339211
  27. RS4455410
  28. RS4473653
  29. RS4475146 – The “A” allele is associated with gout [12].
  30. RS4481233
  31. RS4519796
  32. RS4580649
  33. RS4621431
  34. RS6449157
  35. RS6449159
  36. RS6449171
  37. RS6449172
  38. RS6449174
  39. RS6449176
  40. RS6449178
  41. RS6449201
  42. RS6449213 – This variant is associated with higher blood urate levels [13].
  43. RS6814664
  44. RS6815001
  45. RS6823361
  46. RS6832439 – The “A” allele is associated with decreasing blood uric acid levels [14].
  47. RS6834893
  48. RS6836706
  49. RS6838021
  50. RS6839490
  51. RS6843873
  52. RS6844316
  53. RS6849729
  54. RS6852441
  55. RS6855911 – The “G” allele is associated with less uric acid [15].
  56. RS733175
  57. RS734553 – The “T” allele is associated with gout [16].
  58. RS737267 – The GG genotype is associated with 1.25 times higher risk of gout [17].
  59. RS7376948
  60. RS7378305
  61. RS7378340
  62. RS7435196
  63. RS7442295 – The more common “A” allele is associated with higher blood urate levels and hyperuricemia [18].
  64. RS7658170
  65. RS7671266
  66. RS7672947
  67. RS7676733
  68. RS7677710
  69. RS7680126
  70. RS7686538
  71. RS938554
  72. RS9993410
  73. RS9994266

ABCG2 Gene – The Multi-functional Transporter That Exports Urate:

The ABCG2 gene encodes a multifunctional transporter that belongs to the ATP-binding cassette family and controls the export of various compounds including urate using ATP [19].

  1. RS13120400
  2. RS1481012 – The “A” allele is associated with an increased risk of gout [12]. Heterozygous carriers of the minor allele “G” have a lower risk of colorectal cancer [20].
  3. RS17731538
  4. RS2199936 – The “A” allele is associated with incident gout [21].
  5. RS2231137 – The T” (minor) allele is associated with:
    • Increased activity of the drug Pravastatin in patients being treated for hyperlipidemia [22].
    • Increased risk of tophaceous gout [23]. This results in joint pain and arthritis.
    • Possible increase in drug-induced toxicity [24].
    • An increased survival rate in patients undergoing chemotherapy to treat Acute Myeloid Leukemia [25].
    • Increased chance of toxic response following chemotherapy to treat Acute Myeloid Leukemia [25].

    The C (major) allele is associated with:

    • Higher resistance to imatinib therapy in chronic myeloid leukemia patients (CC) [26].
  6. RS2231142 – The T (minor) allele is associated with:
    1. Increased risk of gout [27].
    2. Frequent diarrhea in lung cancer patients taking gefitinib [28].
    3. Heightened response to statins [29].
  7. RS2622604 – The T (minor) allele is associated with:
    •  Increased risk of developing myelosuppression and diarrhea in colorectal and lung cancer subjects being treated with irinotecan [30]. This is because Irinotecan can be toxic to cells if it is not removed properly.
  8. RS2728124
  9. RS2728125 – The “G” allele is associated with gout [11].
  10. RS3114018
  11. RS4148152
  12. RS4148155
  13. RS72552713 – The “A” allele is associated with an increased risk of gout [31].

SLC22A12 Gene – The Urate Transporter That Determines the Amount of Urate Present in the Blood:

The SLC22A12 gene encodes a protein that is a member of the organic anion transporter (OAT) family, and it transports urate. Found in the epithelial cells of the proximal tubule of the kidney, this protein helps control the amount of urate present in the blood. This gene is thought to be the major luminal pathway for urate reabsorption in humans and mutations have been associated with raised blood urate levels and decreased fractional urate excretion [32].

  1. RS12800450 – The “T” allele is associated with reduced blood urate levels [33].
  2. RS505802 – The “A” allele is associated with gout arthritis in Han Chinese males [34].

SLC22A11 Gene – The Organic Anion Transporter That Reabsorbs Uric Acid:

The SLC22A11 gene encodes a protein that is involved in the transport and excretion of organic anions. It also aids in the reabsorption of uric acid on the apical membrane of the proximal tubule in the kidneys [35].

  1. RS17300741 – The minor “G” allele is associated with lower blood uric acid levels in women [36].

SLC17A1 Gene – The Renal Urate Exporter:

The SLC17A1 gene encodes a sodium-dependent transporter that helps transport glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, as well as urate. It is also associated with a higher risk of gout and hyperuricemia [37].

  1. RS1165196 – The allele “C” is associated with an increased risk of gout in patients with normal uric acid excretion [38]. It is also associated with a low-/high-density lipoprotein cholesterol ratio [39].
  2. RS1183201 – The minor “A” allele is associated with a reduced risk of gout in European and western Polynesian populations [40].

SLC17A3 Gene – Transporter That Transports Intracellular Urate Out of the Cell:

The SLC17A3 gene encodes a voltage-driven transporter that transports intracellular urate and organic anions from the blood into kidney tubule cells [41].

  1. RS1165205 – The “A” allele is associated with higher blood uric acid levels [42].
  2. RS13198474 – The “G” allele is associated with schizophrenia [43].
  3. RS1408272 – The “G” allele is associated with mean corpuscular hemoglobin [44].
  4. RS548987 The “C” is linked to homocysteine concentrations [45].
  5. RS6910741 – The “T” allele is associated with mean arterial pressure [46].

UMOD Gene: The Protein That Helps Control The Amount of Water in Urine:

The UMOD gene encodes uromodulin, a protein that is highly abundant in urine under physiological conditions. Defects in this gene are associated with various kidney diseases including glomerulocystic kidney disease with hyperuricemia [47].

  1. RS12444268 – The “A” allele linked to Type 1 Diabetes [48].
  2. RS12917707 – The minor “T” allele is associated with a lower risk of chronic kidney diseases [49].
  3. RS13333226 – The minor “G” allele is associated with a lower risk of hypertension [50].
  4. RS4293393 – The “T” allele is associated with kidney stones and chronic kidney disease. This SNP may also be associated with susceptibility to gout, hypertension, and diabetes [51].

HPRT1 Gene – The Enzyme That Recycles Purines:

This gene encodes hypoxanthine phosphoribosyltransferase 1, an enzyme that allows cells to recycle purines. Mutations in this gene can result in gout or Lesch-Nyhan syndrome [52].

PRPS1 Gene – The Enzyme That Helps Make Purines:

The PRPS1 gene encodes an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme helps produce phosphoribosyl pyrophosphate (PRPP), which is involved in making purine and pyrimidine nucleotides [53].

Uric acid levels are influenced by your genes. If you’ve gotten your genes sequenced, SelfDecode can help you determine if your levels are high or low as a result of your genes, and then pinpoint what you can do about it.

If you’re sick and tired of guessing about your health, SelfDecode can help you find specific answers that conventional doctors/diagnostics may never uncover.

About the Author

Puya Yazdi

Puya Yazdi

MD
Dr. Puya Yazdi is a physician-scientist with 14+ years of experience in clinical medicine, life sciences, biotechnology, and nutraceuticals.
As a physician-scientist with expertise in genomics, biotechnology, and nutraceuticals, he has made it his mission to bring precision medicine to the bedside and help transform healthcare in the 21st century.He received his undergraduate education at the University of California at Irvine, a Medical Doctorate from the University of Southern California, and was a Resident Physician at Stanford University. He then proceeded to serve as a Clinical Fellow of The California Institute of Regenerative Medicine at The University of California at Irvine, where he conducted research of stem cells, epigenetics, and genomics. He was also a Medical Director for Cyvex Nutrition before serving as president of Systomic Health, a biotechnology consulting agency, where he served as an expert on genomics and other high-throughput technologies. His previous clients include Allergan, Caladrius Biosciences, and Omega Protein. He has a history of peer-reviewed publications, intellectual property discoveries (patents, etc.), clinical trial design, and a thorough knowledge of the regulatory landscape in biotechnology.He is leading our entire scientific and medical team in order to ensure accuracy and scientific validity of our content and products.

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