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[GNA11 gene rs11084997 polymorphisms might be associated with risk of adult-onset non-surgical hypoparathyroidism].
Quan, T T; Nie, M; Li, Y P; Wang, Y B; Chen, S S; Jiang, Y; Li, M; Xia, W B; Wang, O; Xing, X P.
Afiliação
  • Quan TT; Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Transformation Center, Key Laboratory of Endocrinology of National Health Commission, Beijing 100730, China (Quan Tingting is working on Department of Radiology, Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Guangzhou 510060, China).
Zhonghua Nei Ke Za Zhi ; 59(1): 23-28, 2020 Jan 01.
Article em Zh | MEDLINE | ID: mdl-31887832
ABSTRACT

Objective:

To investigate the association of GNA11 gene polymorphisms with the risk of adult-onset non-surgical hypoparathyroidism (Ns-HypoPT).

Methods:

Genotyping of GNA11 single nucleotide polymorphisms (SNPs) (rs28685098, rs4806907, rs11084997 and rs78003011) was carried out in 203 patients and 209 healthy participants by sequenom MassArray iPLEX System. These SNPs are located in promoter and 3'untranslated region (3'UTR) of GNA11 gene, respectively.

Results:

Allele and genotype frequencies of rs11084997 in patients were significantly different from those of controls (genotype GG60.5% vs. 49.8%, GC 35.5% vs. 41.6%, CC 4.0% vs. 8.6%, P=0.038; G allele 78.3% vs. 70.6%, C allele 21.7% vs. 29.4%, P=0.012), and the C allele of rs11084997 carriers had a lower risk to develops Ns-HypoPT in additive and dominant genetic models [OR=0.382 (0.160-0.915), 0.647 (0.437-0.957)]. CC-Haplotype formed by the minor alleles of rs4806907 and rs11084997 was associated with a decreased risk of Ns-HypoPT in additive, dominant and recessive genetic model [OR=0.317 (0.126-0.801), 0.640 (0.430-0.952), 0.367 (0.148-0.912)].

Conclusion:

The minor allele C of rs11084997 in GNA11 gene promoter was associated with decreased risk of Ns-HypoPT in Chinese population.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Subunidades alfa de Proteínas de Ligação ao GTP / Hipoparatireoidismo Tipo de estudo: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Humans País/Região como assunto: Asia Idioma: Zh Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Subunidades alfa de Proteínas de Ligação ao GTP / Hipoparatireoidismo Tipo de estudo: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Humans País/Região como assunto: Asia Idioma: Zh Ano de publicação: 2020 Tipo de documento: Article