title: Analysis of 16 STRs of NOS gene regions and around in six Sardinian populations (Italy).
abstract: OBJECTIVE
  The aims of this work are to provide first data on novel STRs at the NOS gene regions in human populations and to test for possible correlations with mortality rate by malaria in different areas of Sardinia (Italy).
  
  
  METHODS
  In the present study, 16 STRs (13 analyzed for the first time in human populations) localized on three genes NOS were typed in 213 healthy individuals, unrelated for at least three generations, from six historical-geographical Sardinian areas. STRs alleles were determined through sequencing. Statistical analyses were performed by Genepop (v.4.0), Arlequin (v.3.5.1.2), R (v.2.15.1), Statistica (v.5.1), and PHASE (v.2.1) software packages.
  
  
  RESULTS
  The number of alleles found for each locus ranged from 2 to 12 and their distribution is most often unimodal. All populations met Hardy Weinberg equilibrium after Bonferroni correction, with few exceptions. Analysis of genetic distances did not show strong genetic structuring of the investigated populations. Instead, the population genetic variability shows a positive and highly significant (P-value < 0.01) correlation between mortality determined by malaria infection and alleles (TGGA)7 of NOS2, (AAAAG)2 and (ATTT)10 of adNOS1, and (AAACA)11 of adNOS3 genes.
  
  
  CONCLUSIONS
  The peculiar allele distribution found for several NOS alleles could be due to malaria infection that may have contributed to their frequencies, but we cannot exclude that the peculiar allele distribution of NOS might also be due to genetic drift, emphasized by isolation and founder effect.
authors.affiliation: Department of Science of Life and Environment, University of Cagliari, Monserrato, 09042, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Bachis
authors.forename: Carla Maria
authors.initials: CM
authors.lastname: Calò
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Vona
authors.forename: Laura
authors.initials: L
authors.lastname: Corrias
authors.forename: Robert
authors.initials: R
authors.lastname: Carreras-Torres
authors.forename: Pedro
authors.initials: P
authors.lastname: Moral
mesh_terms: D000483:Alleles; D005787:Gene Frequency; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008288:Malaria / Q000235:genetics* / Q000401:mortality; D018895:Microsatellite Repeats; D052248:Nitric Oxide Synthase Type I / Q000235:genetics* / Q000378:metabolism; D052247:Nitric Oxide Synthase Type II / Q000235:genetics* / Q000378:metabolism; D052250:Nitric Oxide Synthase Type III / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic
chemical_list: C496320:NOS1 protein, human; C496319:NOS2 protein, human; C496314:NOS3 protein, human; D052248:Nitric Oxide Synthase Type I; D052247:Nitric Oxide Synthase Type II; D052250:Nitric Oxide Synthase Type III