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 GG:60.5% 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.
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 GG:60.5% 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.
ABSTRACT
Objective To study the clinical characteristics of primary hypoparathyroidism in adults.Methods The clinical data of 200 cases with adult-onset primary hypoparathyroidism in Peking Union Medical College Hospital during December 1987 to December 2015 were collected and analyzed retrospectively.Among them, 128 cases were followed up for a median period of 3 years.Results The major manifestations at their first visits were tetany and numbness in the distal extremities (81.5%,163/200 and 62.0%, 124/200).Thirty-two percent of the cases (62 cases) had history of seizures, and 60.9%( 98/161 ) and 74.4% ( 96/129 ) of them were with intracerebral calcifications and cataracts , respectively.Most of subjects(155/200)had more than one year delay in diagnosis.Hypercalciuria occurred in 67.2%( 86/128 ) of the cases during the follow-up.No significant differences in the clinical characteristics and biochemical markers between the hypercalciuria subjects and the non -hypercalciuria subjects.Renal nephrocalcinosis or stones were found in 6.5%( 5/77 ) of the cases , and kidney function decreased in 6.6%(6/91) of the patients.Kidney function was negatively associated with age and duration of disease.Conclusions The predominant manifestations of primary hypoparathyroidism in adults included tetany and numbness in the distal extremities and seizures .It is often misdiagnosed.Calcium supplement combined with vitamin D or its metabolites effectively relieve clinical symptoms and signs.The serum and urinary calcium levels should be monitored frequently to reduce renal complications .