@article{fdi:010071343,
  title = {{A} polymorphism in the haptoglobin, haptoglobin related protein locus is associated with risk of human sleeping sickness within {C}ameroonian populations},
  author = {{O}fon, {E}. and {N}oyes, {H}. and {M}ulindwa, {J}. and {I}lboudo, {H}. and {S}imuunza, {M}. and {E}boo, {V}. and {N}jiokou, {F}. and {K}offi, {M}. and {B}ucheton, {B}runo and {F}ogue, {P}. and {H}ertz-{F}owler, {C}. and {M}ac{L}eod, {A}. and {S}imo, {G}. and {T}rypano{GEN} {R}esearch {G}roup {H}3{A}frica {C}onsortium},
  editor = {},
  language = {{ENG}},
  abstract = {{B}ackground {H}uman {A}frican {T}rypanosomiasis ({HAT}) is a neglected disease targeted for elimination as a public health problem by 2020. {E}limination requires a better understanding of the epidemiology and clinical evolution of {HAT}. {I}n addition to the classical clinical evolution of {HAT}, asymptomatic carriers and spontaneous cure have been reported in {W}est {A}frica. {A} genetic component to human susceptibility to {HAT} has been suggested to explain these newly observed responses to infection. {I}n order to test for genetic associations with infection response, genetic polymorphism in 17 genes were tested ({APOL}1, {IL}1{B}, {IL}4, {IL}4{R}, {IL}6, {IL}8, {IL}12{B}, {IL}12{RB}1, {IL}10, {TNFA}, {INFG}, {MIF}, {HLA}-{G}, {HLA}-{A}, {HP}, {HPR} and {CFH}). {M}ethodology {A} case-control study was performed on 180 blood samples collected from 56 cases and 124 controls from {C}ameroon. {DNA} was extracted from blood samples. {A}fter quality control, 25 samples (24 controls and 1 case) were eliminated. {T}he genotyping undertaken on 155 individuals including 55 cases and 100 controls were investigated at 96 loci (88 {SNP}s and 8 indels) located on 17 genes. {A}ssociations between these loci and {HAT} were estimated via a case-control association test. {R}esults {A}nalyses of 64 {SNP}s and 4 indels out of 96 identified in the selected genes reveal that the minor allele ({T}) of rs8062041 in haptoglobin ({HP}) appeared to be protective against {HAT} (p = 0.0002395, {OR} 0.359 ({CI}95 [0.204-0.6319])); indicating higher frequency in cases compared to controls. {T}his minor allele with adjusted p value of 0.0163 is associated with a lower risk (protective effect) of developing sleeping sickness. {C}onclusion {T}he haptoglobin related protein {HPR} and {HP} are tightly linked and both are duplicated in some people and may lead to higher activity. {T}his increased production could be responsible of the protection associated with rs8062041 even though this {SNP} is within {HP}.},
  keywords = {{CAMEROUN}},
  booktitle = {},
  journal = {{PLOS} {N}eglected {T}ropical {D}iseases},
  volume = {11},
  numero = {10},
  pages = {e0005979 [16 p.]},
  ISSN = {1935-2735},
  year = {2017},
  DOI = {10.1371/journal.pntd.0005979},
  URL = {https://www.documentation.ird.fr/hor/fdi:010071343},
}