Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome.
Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome.
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DOI：
10.1007/s00467-009-1315-6
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发表时间：
2010-02
影响因子：
3
通讯作者：
Hildebrandt, Friedhelm
中科院分区：
文献类型：
--
作者：
Chernin, Gil;Heeringa, Saskia F.;Vega-Warner, Virginia;Schoeb, Dominik S.;Nuernberg, Peter;Hildebrandt, Friedhelm
先前对美国局灶节段性肾小球硬化症 (FSGS) 和肾病综合征 (NS) 儿童的研究揭示了其临床表现和结果的种族间差异。然而，种族是基于自我认同而不是分子遗传数据。在这里，我们表明自我认定的西班牙裔（西班牙裔美国人）类固醇抵抗性肾病综合征（SRNS）患者存在遗传异质性，因为患者可能具有白种人或中美洲（美洲原住民）遗传背景。来自 18 个家庭的 21 名自认患有 SRNS 的西班牙裔患者最初接受了 NPHS2 和 WT1 基因突变评估。所有患者均在美国居住并接受护理。我们使用 250K 单核苷酸多态性微阵列对所有西班牙裔患者进行全基因组连锁搜索，比较白种人和中美洲人的等位基因频率，以确定血统的纯合性区域，并为每个家族建立正确的等位基因频率。我们发现，18 个自我认定的西班牙裔家庭中，只有 10 个家庭 (56%) 具有中美洲血统，而其他 8 个家庭 (44%) 具有白人血统。由于检查的家庭数量较少，我们无法就该种族群体中 NPHS2 和 WT1 的患病率得出任何结论，但数据确实表明西班牙裔美国患者的种族自我识别并不是遗传学研究的充分基础，因为该队列可能不仅代表中美洲血统的患者，还代表白种人血统的患者。因此，需要严格审查以前对 FSGS/SRNS 患者进行的研究，其中涉及西班牙裔患者作为一组。未来更大规模的研究可能会采用全基因组搜索来寻找关联，以测试自我认定的西班牙裔种族是否为真正的中美洲种族与高加索种族，以便生成有效的遗传数据。
Previous studies in children with focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome (NS) in the USA have revealed inter-ethnic differences in their clinical presentation and outcome. However, ethnicity was based on self-identification rather than on molecular genetic data. Here, we show that genetic heterogeneity exists in self-identified Hispanic (Spanish-American) patients with steroid-resistant nephrotic syndrome (SRNS), as patients may be either of Caucasian or Mesoamerican (Native-American) genetic background. Twenty-one self-identified Hispanic patients with SRNS from 18 families were initially evaluated for mutations in the NPHS2 and WT1 genes. All patients resided and were cared for in the USA. We performed a total genome search for linkage in all Hispanic patients using 250K single nucleotide polymorphism microarrays, comparing Caucasian with Mesoamerican allele frequencies to determine regions of homozygosity by descent and to establish the correct allele frequency for each family. We found that only ten families (56%) of the 18 self-identified Hispanic families are genetically of Mesoamerican descent, whereas the other eight families (44%) are of Caucasian descent. Due to the small number of families examined, we were unable to draw any conclusion on the prevalence of NPHS2 and WT1 in this ethnic group, but the data do suggest that self-identification of ethnicity in Hispanic-American patients is not an adequate basis for genetic studies, as this cohort may represent not only patients of Mesoamerican origin but also patients of Caucasian origin. Thus, one needs to critically review previous studies of FSGS/SRNS patients that involved Hispanic patients as a group. Future larger studies may employ a total genome search for linkage to test self-identified Hispanic ethnicity for true Mesoamerican versus Caucasian ethnicity in order to generate valid genetic data.
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影响因子：
9.8
作者：
Mao, Xianyun;Bigham, Abigail W.;Parra, Esteban J.
通讯作者：
Parra, Esteban J.
影响因子：
3
作者：
INGULLI, E;TEJANI, A
通讯作者：
TEJANI, A
影响因子：
2.8
作者：
Klimentidis, Yann C.;Miller, Geoffrey F.;Shriver, Mark D.
通讯作者：
Shriver, Mark D.
DOI：
10.1097/01.asn.0000113552.59155.72
发表时间：
2004-03-01
影响因子：
13.6
作者：
Ruf, RG;Lichtenberger, A;Hildebrandt, F
通讯作者：
Hildebrandt, F
DOI：
10.1053/j.arrt.2003.10.015
发表时间：
2004-01-01
期刊：
ADVANCES IN RENAL REPLACEMENT THERAPY
影响因子：
--
作者：
Andreoli, SP
通讯作者：
Andreoli, SP