Effect of Sample Size on Haplotype Block Identification
Author Information
Author(s): Osabe Dai, Tanahashi Toshihito, Nomura Kyoko, Shinohara Shuichi, Nakamura Naoto, Yoshikawa Toshikazu, Shiota Hiroshi, Keshavarz Parvaneh, Yamaguchi Yuka, Kunika Kiyoshi, Moritani Maki, Inoue Hiroshi, Itakura Mitsuo
Primary Institution: Fujitsu Limited
Hypothesis
How does sample size affect the identification of haplotype blocks?
Conclusion
A larger sample size is necessary to reliably estimate haplotype blocks, as smaller sizes lead to fragile and unreliable results.
Supporting Evidence
- The study genotyped 1,147 SNPs in a 19.31 Mb region on chromosome 20q.
- A strong LD value of 0.94 was observed in the analyzed region.
- Simulations indicated that reliable haplotype structures could not be obtained with fewer than 200 samples.
Takeaway
To find out how genes are related to diseases, scientists need to look at enough samples; if they don't have enough, their results might be wrong.
Methodology
The study used computational simulations based on genotyping data from 725 Japanese subjects to assess the effect of sample size on haplotype block identification.
Potential Biases
Possible ascertainment bias against SNPs with low allele frequency could influence haplotype block characteristics.
Limitations
The study is limited to a single population and may not represent all ethnic groups.
Participant Demographics
725 Japanese subjects (336 males and 389 females), including 358 healthy controls and 367 type 2 diabetic patients.
Statistical Information
P-Value
p<0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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