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@ARTICLE{Sequeira:276941,
      author       = {J. J. Sequeira and S. Nizamuddin$^*$ and G. van Driem and
                      M. S. Mustak},
      title        = {{TAS}2{R}38 bitter taste perception in the {K}oṅkaṇī
                      {S}ārasvata {B}rahmin population.},
      journal      = {Genes $\&$ genomics},
      volume       = {45},
      number       = {11},
      issn         = {1976-9571},
      address      = {Sŏul},
      publisher    = {Springer},
      reportid     = {DKFZ-2023-01218},
      pages        = {1409-1422},
      year         = {2023},
      note         = {2023 Nov;45(11):1409-1422},
      abstract     = {The TAS2R38 gene carries markers for phenylthiocarbamide
                      (PTC) sensitivity. Various studies have investigated the
                      genotype-phenotype association pattern for bitter tasting
                      ability and other factors in different populations. However,
                      a paucity of such information for endogamous Indian
                      populations is the reason behind this study.To study the
                      association of phenylthiocarbamide (PTC) sensitivity with
                      TAS2R38 gene variations in Koṅkaṇī Sārasvata Brahmin
                      population.We studied the association of the alleles
                      rs714598, rs1726866, rs10246939 with PTC sensitivity and
                      other factors in the Koṅkaṇī Sārasvata Brahmin
                      population. DNA was extracted from 114 individuals belonging
                      to the Koṅkaṇī Sārasvata Brahmin community. The
                      TAS2R38 gene was sequenced to find the genotype distribution
                      pattern. The association between genotype and phenotype was
                      checked using the Chi-Square test and multifactorial
                      logistical regression.We observed a $58.8\%$ frequency of
                      the AVI haplotype, which is the most prevalent in European
                      populations. A higher number of non-taster haplotypes and
                      diplotypes were observed in Koṅkaṇī Sārasvata
                      Brahmins, with the allele rs10246939 showing a significant
                      association with PTC bitter taste sensitivity in both
                      allelic (p = 8.6 × 10-4; Allele-G, OR = 3.57 $[95\%$ CI =
                      1.66-7.69]) and genotype-based (p = 6.9 × 10-4;
                      genotype-AG, OR = 3.11 $[95\%$ CI = 0.73-13.20];
                      genotype-GG, OR = 40 $[95\%$ CI = 3.58-447.03]) tests.Our
                      results are in line with earlier studies, which report an
                      association between PTC sensitivity and the TAS2R38 gene in
                      different populations. In the global context, Koṅkaṇī
                      Sārasvata Brahmins, who are mostly distributed along the
                      southwestern coast of India, show a PTC sensitivity pattern
                      slightly similar to that of West Eurasian populations. Our
                      findings suggest ancestry specific selection in TAS2R38 gene
                      variations for taste sensitivity at global level.},
      keywords     = {Bitter tasters (Other) / Genotype phenotype association
                      (Other) / Koṅkaṇī Sārasvata Brahmin (Other) / PTC
                      (Other) / TAS2R38 gene (Other)},
      cin          = {FR01},
      ddc          = {570},
      cid          = {I:(DE-He78)FR01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37336804},
      doi          = {10.1007/s13258-023-01409-2},
      url          = {https://inrepo02.dkfz.de/record/276941},
}