title: Polymorphisms of CASR gene increase the risk of primary hyperparathyroidism.
abstract: OBJECTIVE
  To evaluate correlations between polymorphisms of calcium-sensing receptor (CASR) gene [A986S (rs1081725), R990G (rs1042636) and Q1011E (rs1801726)] and the risk of primary hyperparathyroidism (PHPT) among human population.
  
  
  METHODS
  Relevant studies were retrieved from online databases using computer-based search strategies, which were then supplemented by manual search strategies. Case-control studies related to our topic were identified based on strict inclusion and exclusion criteria. Statistical analyses were conducted using the Comprehensive Meta-analysis 2.0 (Biostat Inc., Englewood, NJ, USA).
  
  
  RESULTS
  We retrieved 202 studies from online databases and other sources initially and eventually enrolled six studies into our meta-analysis. These six studies contained a sum of 693 PHPT patients and 1252 healthy controls. Our meta-analysis results showed that single nucleotide polymorphisms (SNPs) of CASR gene A986S (rs1081725) and R990G (rs1042636), but not Q1011E (rs1801726), may increase the risk of PHPT [A986S (rs1081725): allele model: P = 0.013; dominant model: P = 0.044; R990G (rs1042636): allele model: P = 0.023; dominant model: P = 0.026)]. Subgroup analyses based on ethnicity showed that among Asians, A986S (rs1081725) increased the PHPT risk (P = 0.04) under the allele model, but not under the dominant model. Among Caucasians, there was no association between gene frequencies and PHPT under both the allele and dominant model. In Asians, no significant association was observed between R990G (rs1042636) and PHPT risk, but in Caucasians, R990G (rs1042636) significantly increased the incidence of PHPT [R990G (rs1042636): allele model: P = 0.015; dominant model: P = 0.009)].
  
  
  CONCLUSIONS
  Our results indicate that SNPs of CASR gene A986S (rs1081725) and R990G (rs1042636) may increase the risk of PHPT, and the polymorphisms can potentially be used as important biological markers for early diagnosis of PHPT.
authors.affiliation: Department of Nephrology, Shaanxi Provincial People's Hospital, Xi'an, 710068, Shaanxi, China.
authors.forename: X-M
authors.initials: XM
authors.lastname: Wang
authors.affiliation: Second Department of Gastroenterology, Shaanxi Provincial People's Hospital, No. 256 West Youyi Road, Xi'an, 710068, Shaanxi, China.
authors.forename: Y-W
authors.initials: YW
authors.lastname: Wu
authors.affiliation: Department of Nephrology, Shaanxi Provincial People's Hospital, Xi'an, 710068, Shaanxi, China.
authors.forename: Z-J
authors.initials: ZJ
authors.lastname: Li
authors.affiliation: Department of Nephrology, Shaanxi Provincial People's Hospital, Xi'an, 710068, Shaanxi, China.
authors.forename: X-H
authors.initials: XH
authors.lastname: Zhao
authors.affiliation: Second Department of Gastroenterology, Shaanxi Provincial People's Hospital, No. 256 West Youyi Road, Xi'an, 710068, Shaanxi, China. samei_lv@126.com.
authors.forename: S-M
authors.initials: SM
authors.lastname: Lv
authors.affiliation: Department of Nephrology, Shaanxi Provincial People's Hospital, Xi'an, 710068, Shaanxi, China.
authors.forename: X-H
authors.initials: XH
authors.lastname: Wang
mesh_terms: D016022:Case-Control Studies; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044169:Receptors, Calcium-Sensing / Q000235:genetics*; D012307:Risk Factors
chemical_list: D044169:Receptors, Calcium-Sensing
keywords: A986S (rs1081725); CASR gene; Calcium-sensing receptor; Meta-analysis; Polymorphism; Primary hyperparathyroidism; Q1011E (rs1801726); R990G (rs1042636)