PDF(Pubmed)
Abstract：
Hypercalcemic primary hyperparathyroidism (PHPT) is a common endocrine disorder that has been very well characterized. In contrast, many aspects of normocalcemic primary hyperparathyroidism (NPHPT) such as natural history, organ damage, and management are still matter of debate. In addition, both the pathophysiology and molecular basis of NPHPT are unclear. We investigated whether PHPT and NPHPT patient cohorts share the same pattern of genetic variation in genes known to be involved in calcium and/or bone metabolism.
Genotyping for 9 single nucleotide polymorphisms (SNPs) was performed by Real-Time PCR (TaqMan assays) on 27 NPHPT and 31 PHPT patients evaluated in a tertiary referral Center. The data of both groups were compared with 54 in house-controls and 503 subjects from the 1000 Genomes Project. All groups were compared for allele/haplotype frequencies, on a single locus, two loci and multi-locus basis.
The NPHPT group differed significantly at SNPs in OPG and ESR1. Also, the NPHPT cohort was peculiar for pairwise associations of genotypes and for the overrepresentation of unusual multilocus genotypes.
Our NPHPT patient set harbored a definitely larger quota of genetic diversity than the other samples. Specific genotypes may help in defining subgroups of NPHPT patients which deserve ad hoc clinical and follow-up studies.
Genotyping for 9 single nucleotide polymorphisms (SNPs) was performed by Real-Time PCR (TaqMan assays) on 27 NPHPT and 31 PHPT patients evaluated in a tertiary referral Center. The data of both groups were compared with 54 in house-controls and 503 subjects from the 1000 Genomes Project. All groups were compared for allele/haplotype frequencies, on a single locus, two loci and multi-locus basis.
The NPHPT group differed significantly at SNPs in OPG and ESR1. Also, the NPHPT cohort was peculiar for pairwise associations of genotypes and for the overrepresentation of unusual multilocus genotypes.
Our NPHPT patient set harbored a definitely larger quota of genetic diversity than the other samples. Specific genotypes may help in defining subgroups of NPHPT patients which deserve ad hoc clinical and follow-up studies.
摘要：
目的：高钙血症性原发性甲状旁腺功能亢进（PHPT）是一种常见的内分泌疾病，已得到很好的表征。相比之下,血钙正常的原发性甲状旁腺功能亢进（NPHPT）的许多方面，如自然史，器官损伤,和管理仍然是争论的问题。此外,NPHPT的病理生理学和分子基础尚不清楚。我们调查了PHPT和NPHPT患者队列在已知与钙和/或骨代谢有关的基因中是否具有相同的遗传变异模式。
方法：通过Real-TimePCR（TaqMan分析）对27名NPHPT和31名PHPT患者进行了9种单核苷酸多态性（SNP）的基因分型。将两组的数据与房屋对照的54名和1000基因组计划的503名受试者进行了比较。比较所有组的等位基因/单倍型频率，在单个基因座上，两个基因座和多基因座基础。
结果：NPHPT组在OPG和ESR1的SNP上存在显著差异。此外，NPHPT队列对于基因型的成对关联和不寻常的多位点基因型的过度表达是特有的.
结论：我们的NPHPT患者组拥有比其他样本更大的遗传多样性配额。特定基因型可能有助于确定NPHPT患者的亚组，这些亚组值得进行特殊的临床和随访研究。
方法：通过Real-TimePCR（TaqMan分析）对27名NPHPT和31名PHPT患者进行了9种单核苷酸多态性（SNP）的基因分型。将两组的数据与房屋对照的54名和1000基因组计划的503名受试者进行了比较。比较所有组的等位基因/单倍型频率，在单个基因座上，两个基因座和多基因座基础。
结果：NPHPT组在OPG和ESR1的SNP上存在显著差异。此外，NPHPT队列对于基因型的成对关联和不寻常的多位点基因型的过度表达是特有的.
结论：我们的NPHPT患者组拥有比其他样本更大的遗传多样性配额。特定基因型可能有助于确定NPHPT患者的亚组，这些亚组值得进行特殊的临床和随访研究。
