Talebi Hanieh, Dastgheib Seyed Alireza, Vafapour Maryam, Bahrami Reza, Shahbazi Amirhossein, Shams Seyedeh Elham, Danaei Mahsa, Rashnavadi Heewa, Yeganegi Maryam, Pourkazemi Melina, Shiri Amirmasoud, Aghasipour Maryam, Neamatzadeh Hossein
Clinical Research Development Unit, Fatemieh Hospital, Hamadan University of Medical Sciences, Hamadan, Iran.
Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
BMC Pediatr. 2025 Mar 28;25(1):251. doi: 10.1186/s12887-025-05493-z.
This study aimed to assess the link between polymorphisms in the SLCO1B1 gene, responsible for the organic anion transporter polypeptide 1B1 (OATP1B1), and the risk of neonatal hyperbilirubinemia.
A comprehensive literature review was performed utilizing PubMed, Web of Knowledge, and CNKI, culminating on December 1, 2023, focusing on studies published before this date. The search employed relevant keywords and MeSH terms related to hyperbilirubinemia and genetic factors. The inclusion criteria focused on original case-control, longitudinal, or cohort studies, with no restrictions on language or publication year. Correlations were quantified as odds ratios (ORs) with 95% confidence intervals (CIs) using Comprehensive Meta-Analysis software.
Thirty-six case-control studies drawn from 22 publications encompassed a total of 5,186 cases and 5,561 controls. Among these, 20 studies involved the rs2306283 polymorphism, with 2,602 cases and 2,832 controls, while 16 studies focused on rs4149056, including 2,584 cases and 2,729 controls. Sample sizes varied significantly, ranging from 41 to 447 cases and 47 to 544 controls. Pooled analysis indicated no significant associations for rs2306283 overall or within Asian and Caucasian subgroups; however, significant associations emerged within the Chinese subgroup under both the allele model (OR = 1.297, 95% CI 1.012-1.662, p = 0.040) and the dominant model (OR = 1.344, 95% CI 1.013-1.784, p = 0.041), suggesting a potential risk tied to the G allele. Conversely, the examination of rs4149056 revealed no significant associations across all comparisons, including ethnic subgroup analyses.
The results imply that polymorphisms rs2306283 and rs4149056 in the SLCO1B1 gene are generally not associated with the risk of neonatal hyperbilirubinemia in overall population. Nevertheless, rs2306283 may pose an increased risk within the Chinese population, while rs4149056 shows no significant correlations across various groups. Further research is needed to clarify these implications and investigate other genetic factors related to neonatal hyperbilirubinemia.
本研究旨在评估负责有机阴离子转运多肽1B1（OATP1B1）的SLCO1B1基因多态性与新生儿高胆红素血症风险之间的联系。
利用PubMed、Web of Knowledge和中国知网进行了全面的文献综述，截止日期为2023年12月1日，重点关注该日期之前发表的研究。搜索使用了与高胆红素血症和遗传因素相关的相关关键词和医学主题词。纳入标准侧重于原始病例对照、纵向或队列研究，对语言或发表年份无限制。使用综合Meta分析软件将相关性量化为比值比（OR）及95%置信区间（CI）。
来自22篇出版物的36项病例对照研究共纳入5186例病例和5561例对照。其中，20项研究涉及rs2306283多态性，有2602例病例和2832例对照，16项研究聚焦于rs4149056，包括2584例病例和2729例对照。样本量差异显著，病例数从41例到447例不等，对照数从47例到544例不等。汇总分析表明，rs2306283在总体人群中以及在亚洲和白种人亚组中均无显著关联；然而，在等位基因模型（OR = 1.297，95% CI 1.012 - 1.662，p = 0.040）和显性模型（OR = 1.344，95% CI 1.013 - 1.784，p = 0.041）下，中国亚组中出现了显著关联，表明与G等位基因存在潜在风险。相反，对rs4149056的检测在所有比较中均未发现显著关联，包括种族亚组分析。
结果表明，SLCO1B1基因中的rs2306283和rs4149056多态性在总体人群中一般与新生儿高胆红素血症风险无关。然而，rs2306283在中国人群中可能会增加风险，而rs4149056在各个群体中均未显示出显著相关性。需要进一步研究以阐明这些影响，并调查与新生儿高胆红素血症相关的其他遗传因素。
