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Background <p>Diabetes mellitus (DM) poses a significant global health challenge, with its prevalence escalating across diverse populations, including South Asia.</p> Objective <p>This study conducted a pedigree analysis of three multigenerational families from Bahawalpur,&#xa0;Pakistan, to elucidate the inheritance patterns and severity of DM.</p> Methods <p>Encompassing 94 individuals, data were collected via structured interviews, medical records, and family reports, adhering to American Diabetes Association diagnostic criteria.</p> Results <p>Analysis revealed 54 affected cases, demonstrating a strong familial aggregation. Family 1 (49 individuals) exhibited 26 affected members, predominantly males (15 vs. 11 females), with an onset age of 30–45 years and severe complications such as peripheral artery&#xa0;disease necessitating amputations. Family 2 (26 individuals) reported 15 affected cases, with a balanced gender distribution and an early onset ranging from 12–40 years. Family 3 (19 individuals) included 13 affected members, with onset ages between 25–45 years.&#xa0;Data were collected via structured interviews, medical records, and family reports, adhering to American Diabetes Association diagnostic criteria. Pedigrees suggest potential autosomal dominant or multifactorial inheritance, accentuated by consanguinity in some&#xa0;families.</p> Conclusions <p>These findings underscore the interplay of genetic predisposition and environmental factors in DM within this population, aligning with prior genetic studies in South Asians. The study highlights the necessity for targeted screening and early&#xa0;interventions in high-risk familial clusters, advocating for further genetic research to enhance personalized diabetes management and mitigate its burden in South Asia.</p>

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Pedigree Analysis of Diabetes Mellitus in Multigenerational Families from Bahawalpur, Pakistan: Inheritance Patterns and Genetic Risk Factors

  • 期刊论文

  • 发表日期：

    2025年6月23日

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  • Muhammad Waseem,
  • Tayyaba Sultana,
  • Muhammad Irfan,
  • Romana Arshad,
  • Farhat Ullah

摘要

Background

Diabetes mellitus (DM) poses a significant global health challenge, with its prevalence escalating across diverse populations, including South Asia.

Objective

This study conducted a pedigree analysis of three multigenerational families from Bahawalpur, Pakistan, to elucidate the inheritance patterns and severity of DM.

Methods

Encompassing 94 individuals, data were collected via structured interviews, medical records, and family reports, adhering to American Diabetes Association diagnostic criteria.

Results

Analysis revealed 54 affected cases, demonstrating a strong familial aggregation. Family 1 (49 individuals) exhibited 26 affected members, predominantly males (15 vs. 11 females), with an onset age of 30–45 years and severe complications such as peripheral artery disease necessitating amputations. Family 2 (26 individuals) reported 15 affected cases, with a balanced gender distribution and an early onset ranging from 12–40 years. Family 3 (19 individuals) included 13 affected members, with onset ages between 25–45 years. Data were collected via structured interviews, medical records, and family reports, adhering to American Diabetes Association diagnostic criteria. Pedigrees suggest potential autosomal dominant or multifactorial inheritance, accentuated by consanguinity in some families.

Conclusions

These findings underscore the interplay of genetic predisposition and environmental factors in DM within this population, aligning with prior genetic studies in South Asians. The study highlights the necessity for targeted screening and early interventions in high-risk familial clusters, advocating for further genetic research to enhance personalized diabetes management and mitigate its burden in South Asia.