title: Distribution of three SNPs related to low bone mineral density in Amerindian groups and Mestizos from Mexico.
abstract: OBJECTIVE
  Some Single nucleotide polymorphisms (SNPs) of several candidate genes have been associated with low bone mineral density (BMD) and fracture risk. As the genetic variability of such SNPs in Hispanic and Native American populations is scarce, we analyzed the three SNPs that have been related with bone mass disorders (Sp1, A163G, and BsmI) located in the genes of Type I Collagen (COL1A1), Osteoprotegerin (OPG), and Vitamin D receptor (VDR) in Mexican Mestizos (people resulting from post-Columbian admixture) and five Amerindian populations.
  
  
  METHODS
  We genotyped these three SNPs by Polymerase chain reaction (PCR) and Restriction fragment length polymorphisms (RFLPs) in 523 individuals from five Mexican Amerindian groups (Nahua, Maya, Purépecha, Tarahumara, and Huichol) and 227 western Mestizos (Jalisco state).
  
  
  RESULTS
  The modal allele was the same in all the six populations for Sp1-COL1A1 (S > 77%), A163G-OPG (A > 80%), and BsmI-VDR (b > 62%). Genotype distribution was in Hardy-Weinberg equilibrium in all SNPs/populations, excepting Sp1-COL1A1 in the Purépecha group and BsmI-VDR in Mestizo. In terms of the presumably Sp1-COL1A1 risk allele to low BMD (allele "s"), the Purépecha group showed the highest allele (23%) and homozygous (14.5%) frequencies. If the role of this allele as a genetic predisposing factor to low BMD were confirmed, this would mean increased susceptibility of Purépechas with regard to Europeans (14.5 vs. 6.8%).
  
  
  CONCLUSIONS
  This finding presumably could influence the genetic susceptibility to low BMD in Purépechas. For the SNPs, BsmI-VDR and A163G-OPG, relative homogeneity was observed among the Mexican populations analyzed here.
authors.affiliation: Instituto de Investigación en Genética Molecular, Centro Universitario de la Ciénega, Universidad de Guadalajara (CUCiénega-UdeG), Ocotlán, Jalisco, México.
authors.forename: Ismael
authors.initials: I
authors.lastname: Nuño-Arana
authors.forename: Valeria Del Rocío
authors.initials: Vdel R
authors.lastname: Sahagún-Núñez
authors.forename: José Francisco
authors.initials: JF
authors.lastname: Muñoz-Valle
authors.forename: Lucila
authors.initials: L
authors.lastname: Sandoval
authors.forename: Doris
authors.initials: D
authors.lastname: Pinto-Escalante
authors.forename: Luis Antonio
authors.initials: LA
authors.lastname: Páez-Riberos
authors.forename: Brissia
authors.initials: B
authors.lastname: Lazalde
authors.forename: Montserrat
authors.initials: M
authors.lastname: Maldonado-González
authors.forename: Héctor
authors.initials: H
authors.lastname: Rangel-Villalobos
mesh_terms: D015519:Bone Density; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007198:Indians, North American; D008800:Mexico; D010024:Osteoporosis / Q000209:etiology / Q000235:genetics*; D053244:Osteoprotegerin / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D053244:Osteoprotegerin; D018167:Receptors, Calcitriol; C506030:TNFRSF11B protein, human